Including: anxiety, mood, dementia, psychotic, mental, dissociative, personality, bipolar, paranoid
See other categories (disease lists)
# |
Family |
MCID |
Name |
MIFTS |
1 |
c
|
CRB172 |
Cerebral Amyloid Angiopathy, Cst3-Related |
62 |
2 |
c
|
CRB174 |
Cerebral Amyloid Angiopathy, Itm2b-Related, 2 |
43 |
3 |
c
|
INT414 |
Intellectual Developmental Disorder, X-Linked 29 |
35 |
4 |
P
|
INT404 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
35 |
5 |
c
|
INT407 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
25 |
6 |
|
INT422 |
Intellectual Developmental Disorder with Microcephaly and Pontine and Cerebellar Hypoplasia |
38 |
7 |
P
|
KHL003 |
Kohlschutter-Tonz Syndrome |
57 |
8 |
c
|
CRB176 |
Cerebral Amyloid Angiopathy, Itm2b-Related, 1 |
46 |
9 |
|
INT412 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
40 |
10 |
|
NRD151 |
Neurodevelopmental Disorder with or Without Hypotonia, Seizures, and Cerebellar Atrophy |
39 |
11 |
|
INT410 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
32 |
12 |
c
|
FCL027 |
Focal Segmental Glomerulosclerosis 3 |
33 |
13 |
P
|
FCL005 |
Focal Segmental Glomerulosclerosis |
59 |
14 |
c
|
FCL082 |
Focal Segmental Glomerulosclerosis 4 |
20 |
15 |
c
|
DVL030 |
Developmental and Epileptic Encephalopathy 36 |
61 |
16 |
c
|
DVL027 |
Developmental and Epileptic Encephalopathy 9 |
52 |
17 |
c
|
DVL103 |
Developmental and Epileptic Encephalopathy 80 |
39 |
18 |
c
|
DVL097 |
Developmental and Epileptic Encephalopathy 73 |
36 |
19 |
|
INT408 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
33 |
20 |
c
|
INT436 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
29 |
21 |
c
|
DVL104 |
Developmental and Epileptic Encephalopathy 81 |
26 |
22 |
c
|
INT424 |
Intellectual Developmental Disorder, X-Linked 97 |
24 |
23 |
c
|
FCL025 |
Focal Segmental Glomerulosclerosis 1 |
47 |
24 |
c
|
DVL100 |
Developmental and Epileptic Encephalopathy 76 |
40 |
25 |
c
|
FRN060 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 6 |
33 |
26 |
|
ABN011 |
Abnormal Hair, Joint Laxity, and Developmental Delay |
26 |
27 |
c
|
DVL035 |
Developmental and Epileptic Encephalopathy 4 |
47 |
28 |
|
INT418 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
33 |
29 |
c
|
INT435 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
30 |
30 |
|
INT415 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
29 |
31 |
|
NRD150 |
Neurodevelopmental Disorder with Hypotonia, Impaired Language, and Dysmorphic Features |
26 |
32 |
|
INT371 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
23 |
33 |
|
DRV001 |
Dravet Syndrome |
71 |
34 |
|
CNG437 |
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay |
42 |
35 |
|
CRB228 |
Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities |
32 |
36 |
c
|
INT384 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
30 |
37 |
|
DYS181 |
Dyssegmental Dysplasia with Glaucoma |
24 |
38 |
c
|
DVL041 |
Developmental and Epileptic Encephalopathy 13 |
50 |
39 |
P
|
SPN202 |
Spinocerebellar Ataxia, X-Linked 1 |
46 |
40 |
|
DVL146 |
Developmental and Epileptic Encephalopathy 39 with Leukodystrophy |
45 |
41 |
c
|
FCL026 |
Focal Segmental Glomerulosclerosis 2 |
40 |
42 |
c
|
FCL028 |
Focal Segmental Glomerulosclerosis 5 |
39 |
43 |
c
|
DVL053 |
Developmental and Epileptic Encephalopathy 27 |
38 |
44 |
c
|
FCL085 |
Focal Segmental Glomerulosclerosis 7 |
37 |
45 |
c
|
DVL055 |
Developmental and Epileptic Encephalopathy 29 |
37 |
46 |
c
|
FCL043 |
Focal Segmental Glomerulosclerosis 6 |
37 |
47 |
c
|
SPN363 |
Spinocerebellar Ataxia, X-Linked 4 |
35 |
48 |
|
CHN077 |
Chung-Jansen Syndrome |
34 |
49 |
c
|
DVL054 |
Developmental and Epileptic Encephalopathy 28 |
34 |
50 |
c
|
SYN073 |
Syngap1-Related Intellectual Disability |
32 |
51 |
c
|
SPN203 |
Spinocerebellar Ataxia, X-Linked 5 |
29 |
52 |
c
|
DVL058 |
Developmental and Epileptic Encephalopathy 32 |
28 |
53 |
|
BKR002 |
Baker-Gordon Syndrome |
28 |
54 |
c
|
DVL083 |
Developmental and Epileptic Encephalopathy 59 |
26 |
55 |
|
INT405 |
Intellectual Developmental Disorder, X-Linked, with Panhypopituitarism |
24 |
56 |
c
|
DVL096 |
Developmental and Epileptic Encephalopathy 72 |
24 |
57 |
c
|
SPN403 |
Spinocerebellar Ataxia, X-Linked 2 |
20 |
58 |
|
INT488 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Abidi Type |
20 |
59 |
c
|
INT429 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
19 |
60 |
c
|
INT470 |
Intellectual Developmental Disorder, X-Linked, Syndromic 7 |
17 |
61 |
c
|
INT500 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
16 |
62 |
|
INT501 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
16 |
63 |
c
|
CRB193 |
Cerebral Amyloid Angiopathy, App-Related |
57 |
64 |
c
|
DVL033 |
Developmental and Epileptic Encephalopathy 1 |
57 |
65 |
c
|
DVL039 |
Developmental and Epileptic Encephalopathy 11 |
45 |
66 |
c
|
FRN045 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 |
42 |
67 |
c
|
DVL045 |
Developmental and Epileptic Encephalopathy 17 |
40 |
68 |
|
PRP093 |
Pierpont Syndrome |
38 |
69 |
c
|
INT403 |
Intellectual Developmental Disorder, X-Linked 21 |
34 |
70 |
|
MTH013 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
32 |
71 |
c
|
FCL053 |
Focal Segmental Glomerulosclerosis 8 |
32 |
72 |
c
|
FCL055 |
Focal Segmental Glomerulosclerosis 9 |
31 |
73 |
|
INT441 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
29 |
74 |
|
INT518 |
Intellectual Developmental Disorder, Autosomal Dominant 6, with or Without Seizures |
29 |
75 |
|
FRN030 |
Frontotemporal Dementia with Parkinsonism-17 |
28 |
76 |
c
|
INT434 |
Intellectual Developmental Disorder, X-Linked 12 |
28 |
77 |
|
INT383 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
25 |
78 |
c
|
AMY104 |
Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia |
24 |
79 |
|
INT570 |
Intellectual Developmental Disorder with Language Impairment and with or Without Autistic Features |
24 |
80 |
c
|
INT387 |
Intellectual Developmental Disorder, Autosomal Dominant 60, with Seizures |
22 |
81 |
c
|
AMY099 |
Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia |
18 |
82 |
|
DNT005 |
Dentatorubral-Pallidoluysian Atrophy |
55 |
83 |
P
|
DVL012 |
Developmental Dysplasia of the Hip 1 |
39 |
84 |
|
MCR064 |
Microcephaly, Seizures, and Developmental Delay |
38 |
85 |
|
HYP241 |
Hypermethioninemia Due to Adenosine Kinase Deficiency |
37 |
86 |
c
|
INT446 |
Intellectual Developmental Disorder, X-Linked 1 |
35 |
87 |
c
|
AMY105 |
Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia |
32 |
88 |
c
|
DVL129 |
Developmental and Epileptic Encephalopathy 25 |
31 |
89 |
|
SHR124 |
Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures |
31 |
90 |
c
|
INT419 |
Intellectual Developmental Disorder, X-Linked 30 |
30 |
91 |
c
|
INT420 |
Intellectual Developmental Disorder, X-Linked 93 |
27 |
92 |
c
|
INT431 |
Intellectual Developmental Disorder, X-Linked 99 |
27 |
93 |
c
|
INT439 |
Intellectual Developmental Disorder, X-Linked 104 |
26 |
94 |
c
|
INT421 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
25 |
95 |
c
|
DVL106 |
Developmental and Epileptic Encephalopathy 83 |
25 |
96 |
c
|
INT442 |
Intellectual Developmental Disorder, X-Linked 106 |
25 |
97 |
|
AMY102 |
Amyotrophic Lateral Sclerosis, Juvenile, with Dementia |
24 |
98 |
c
|
INT575 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
22 |
99 |
c
|
INT438 |
Intellectual Developmental Disorder, X-Linked 103 |
22 |
100 |
c
|
INT445 |
Intellectual Developmental Disorder, X-Linked 107 |
21 |
101 |
|
INT482 |
Intellectual Developmental Disorder, Fra12a Type |
21 |
102 |
|
INT444 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
21 |
103 |
c
|
INT423 |
Intellectual Developmental Disorder, X-Linked 96 |
21 |
104 |
c
|
AMY114 |
Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal Dementia |
20 |
105 |
c
|
INT440 |
Intellectual Developmental Disorder, X-Linked 105 |
19 |
106 |
c
|
INT433 |
Intellectual Developmental Disorder, X-Linked 101 |
19 |
107 |
c
|
INT432 |
Intellectual Developmental Disorder, X-Linked 100 |
17 |
108 |
|
EPL170 |
Epilepsy-Aphasia Spectrum |
17 |
109 |
|
MTH089 |
Methylmalonic Aciduria and Homocystinuria, Cblx Type |
48 |
110 |
c
|
DVL048 |
Developmental and Epileptic Encephalopathy 21 |
45 |
111 |
c
|
DVL056 |
Developmental and Epileptic Encephalopathy 30 |
44 |
112 |
c
|
DVL068 |
Developmental and Epileptic Encephalopathy 43 |
44 |
113 |
|
CNG501 |
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder |
44 |
114 |
c
|
DVL099 |
Developmental and Epileptic Encephalopathy 75 |
43 |
115 |
c
|
DVL067 |
Developmental and Epileptic Encephalopathy 42 |
43 |
116 |
c
|
DVL044 |
Developmental and Epileptic Encephalopathy 16 |
43 |
117 |
c
|
DVL077 |
Developmental and Epileptic Encephalopathy 53 |
42 |
118 |
c
|
DVL076 |
Developmental and Epileptic Encephalopathy 52 |
42 |
119 |
c
|
DVL072 |
Developmental and Epileptic Encephalopathy 47 |
41 |
120 |
c
|
MLT179 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
40 |
121 |
c
|
DVL064 |
Developmental and Epileptic Encephalopathy 38 |
40 |
122 |
c
|
DVL061 |
Developmental and Epileptic Encephalopathy 34 |
39 |
123 |
c
|
DVL098 |
Developmental and Epileptic Encephalopathy 74 |
39 |
124 |
c
|
DVL052 |
Developmental and Epileptic Encephalopathy 26 |
39 |
125 |
c
|
DVL073 |
Developmental and Epileptic Encephalopathy 48 |
38 |
126 |
c
|
DVL109 |
Developmental and Epileptic Encephalopathy 87 |
38 |
127 |
c
|
DVL060 |
Developmental and Epileptic Encephalopathy 50 |
38 |
128 |
P
|
PRR032 |
Pura-Related Neurodevelopmental Disorders |
37 |
129 |
c
|
DVL078 |
Developmental and Epileptic Encephalopathy 54 |
36 |
130 |
c
|
DVL079 |
Developmental and Epileptic Encephalopathy 55 |
36 |
131 |
c
|
DVL069 |
Developmental and Epileptic Encephalopathy 44 |
36 |
132 |
|
WSM002 |
Waisman Syndrome |
36 |
133 |
c
|
DVL059 |
Developmental and Epileptic Encephalopathy 33 |
34 |
134 |
c
|
DVL090 |
Developmental and Epileptic Encephalopathy 66 |
34 |
135 |
c
|
DVL057 |
Developmental and Epileptic Encephalopathy 31 |
34 |
136 |
c
|
DVL089 |
Developmental and Epileptic Encephalopathy 65 |
33 |
137 |
|
SNJ002 |
Snijders Blok-Campeau Syndrome |
33 |
138 |
c
|
DVL084 |
Developmental and Epileptic Encephalopathy 60 |
33 |
139 |
c
|
DVL063 |
Developmental and Epileptic Encephalopathy 37 |
30 |
140 |
c
|
DVL107 |
Developmental and Epileptic Encephalopathy 84 |
30 |
141 |
c
|
DVL080 |
Developmental and Epileptic Encephalopathy 56 |
28 |
142 |
|
DMN026 |
Dementia Pugilistica |
28 |
143 |
c
|
DVL071 |
Developmental and Epileptic Encephalopathy 46 |
28 |
144 |
|
ALP089 |
Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality |
28 |
145 |
|
INT312 |
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies |
28 |
146 |
|
INT337 |
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies |
27 |
147 |
c
|
DVL066 |
Developmental and Epileptic Encephalopathy 41 |
27 |
148 |
c
|
DVL094 |
Developmental and Epileptic Encephalopathy 70 |
27 |
149 |
c
|
DVL093 |
Developmental and Epileptic Encephalopathy 69 |
27 |
150 |
c
|
DVL086 |
Developmental and Epileptic Encephalopathy 62 |
27 |
151 |
c
|
DVL074 |
Developmental and Epileptic Encephalopathy 49 |
27 |
152 |
c
|
DVL101 |
Developmental and Epileptic Encephalopathy 78 |
27 |
153 |
c
|
DVL092 |
Developmental and Epileptic Encephalopathy 68 |
26 |
154 |
|
FCL088 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, and Gingival Overgrowth Syndrome |
26 |
155 |
c
|
DVL091 |
Developmental and Epileptic Encephalopathy 67 |
26 |
156 |
c
|
DVL075 |
Developmental and Epileptic Encephalopathy 51 |
26 |
157 |
c
|
DVL070 |
Developmental and Epileptic Encephalopathy 45 |
26 |
158 |
c
|
DVL081 |
Developmental and Epileptic Encephalopathy 57 |
25 |
159 |
|
INT416 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
25 |
160 |
c
|
DVL102 |
Developmental and Epileptic Encephalopathy 79 |
25 |
161 |
c
|
DVL105 |
Developmental and Epileptic Encephalopathy 82 |
25 |
162 |
c
|
DVL085 |
Developmental and Epileptic Encephalopathy 61 |
25 |
163 |
c
|
DVL087 |
Developmental and Epileptic Encephalopathy 63 |
24 |
164 |
c
|
DVL110 |
Developmental and Epileptic Encephalopathy 88 |
24 |
165 |
c
|
DVL095 |
Developmental and Epileptic Encephalopathy 71 |
24 |
166 |
c
|
DVL065 |
Developmental and Epileptic Encephalopathy 40 |
24 |
167 |
c
|
DVL082 |
Developmental and Epileptic Encephalopathy 58 |
23 |
168 |
|
INT459 |
Intellectual Developmental Disorder, Autosomal Recessive 34, with Variant Lissencephaly |
22 |
169 |
c
|
INT498 |
Intellectual Developmental Disorder, X-Linked, Syndromic 9 |
18 |
170 |
c
|
GRN052 |
Grin2b-Related Neurodevelopmental Disorder |
16 |
171 |
c
|
INT489 |
Intellectual Developmental Disorder, X-Linked 53 |
14 |
172 |
c
|
ATN031 |
Atn1-Related Neurodevelopmental Disorder |
10 |
173 |
|
DRM001 |
Dermal Unilateral Segmental Cavernous Angioma |
6 |
174 |
c
|
DVL038 |
Developmental and Epileptic Encephalopathy 7 |
54 |
175 |
c
|
DVL029 |
Developmental and Epileptic Encephalopathy 2 |
53 |
176 |
c
|
DVL037 |
Developmental and Epileptic Encephalopathy 5 |
42 |
177 |
c
|
DVL049 |
Developmental and Epileptic Encephalopathy 23 |
42 |
178 |
|
OKR001 |
Okur-Chung Neurodevelopmental Syndrome |
41 |
179 |
c
|
DVL034 |
Developmental and Epileptic Encephalopathy 3 |
39 |
180 |
c
|
DVL028 |
Developmental and Epileptic Encephalopathy 8 |
39 |
181 |
c
|
DVL040 |
Developmental and Epileptic Encephalopathy 12 |
39 |
182 |
|
BLB005 |
Beaulieu-Boycott-Innes Syndrome |
38 |
183 |
P
|
ATS366 |
Autism X-Linked 2 |
37 |
184 |
c
|
DVL050 |
Developmental and Epileptic Encephalopathy 24 |
37 |
185 |
|
INT313 |
Intellectual Developmental Disorder with Cardiac Arrhythmia |
34 |
186 |
|
SHR103 |
Short Stature, Developmental Delay, and Congenital Heart Defects |
32 |
187 |
c
|
DVL046 |
Developmental and Epileptic Encephalopathy 18 |
32 |
188 |
c
|
DVL119 |
Developmental and Epileptic Encephalopathy 6b |
31 |
189 |
|
CLF048 |
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features |
29 |
190 |
|
INT437 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
28 |
191 |
c
|
DVL088 |
Developmental and Epileptic Encephalopathy 64 |
27 |
192 |
c
|
DVL047 |
Developmental and Epileptic Encephalopathy 19 |
27 |
193 |
|
HYP697 |
Hyperphosphatasia with Mental Retardation Syndrome 6 |
26 |
194 |
c
|
INT393 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
26 |
195 |
c
|
DVL032 |
Developmental and Epileptic Encephalopathy 90 |
25 |
196 |
|
INT378 |
Intellectual Developmental Disorder with Autistic Features and Language Delay, with or Without Seizures |
25 |
197 |
c
|
INT400 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
24 |
198 |
c
|
INT385 |
Intellectual Developmental Disorder, Autosomal Dominant 61 |
24 |
199 |
|
INT451 |
Intellectual Developmental Disorder, X-Linked, Syndromic, with Pigmentary Mosaicism and Coarse Facies |
24 |
200 |
|
INT374 |
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or Without Seizures |
23 |
201 |
|
INT329 |
Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities |
23 |
202 |
c
|
DVL124 |
Developmental and Epileptic Encephalopathy 97 |
22 |
203 |
|
NRD071 |
Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements |
22 |
204 |
|
INT502 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
22 |
205 |
|
NRD090 |
Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements |
21 |
206 |
c
|
DVL108 |
Developmental and Epileptic Encephalopathy 86 |
21 |
207 |
|
RDL027 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
18 |
208 |
|
NVL002 |
Novelty Seeking Personality Trait |
15 |
209 |
|
LRN006 |
Laurin-Sandrow Syndrome |
52 |
210 |
P
|
DVL113 |
Developmental and Epileptic Encephalopathy |
51 |
211 |
c
|
DBT104 |
Diabetes Mellitus, Permanent Neonatal, 1 |
51 |
212 |
P
|
PRM030 |
Permanent Neonatal Diabetes Mellitus |
51 |
213 |
|
GLB021 |
Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies |
46 |
214 |
|
GRS001 |
Gerstmann Syndrome |
42 |
215 |
|
BRK002 |
Birk-Barel Syndrome |
39 |
216 |
c
|
MJR023 |
Major Affective Disorder 7 |
39 |
217 |
P
|
PRS013 |
Prosopagnosia |
39 |
218 |
|
MLT001 |
Multiple Chemical Sensitivity |
39 |
219 |
|
INT372 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
38 |
220 |
c
|
DVL043 |
Developmental and Epileptic Encephalopathy 15 |
38 |
221 |
|
TMP011 |
Temple-Baraitser Syndrome |
36 |
222 |
|
CMB076 |
Combined Oxidative Phosphorylation Deficiency 31 |
35 |
223 |
|
DVL123 |
Developmental and Epileptic Encephalopathy 25 with Amelogenesis Imperfecta |
30 |
224 |
c
|
DBT107 |
Diabetes Mellitus, Permanent Neonatal, 4 |
29 |
225 |
|
INT328 |
Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities |
29 |
226 |
c
|
PRS058 |
Prosopagnosia, Hereditary |
28 |
227 |
c
|
INT566 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
27 |
228 |
|
CRN275 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
26 |
229 |
c
|
INT447 |
Intellectual Developmental Disorder, X-Linked 9 |
26 |
230 |
|
INT365 |
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies |
26 |
231 |
|
KCN019 |
Kcnk9 Imprinting Syndrome |
25 |
232 |
P
|
DVL137 |
Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 1 |
25 |
233 |
|
NRD052 |
Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures |
25 |
234 |
c
|
INT413 |
Intellectual Developmental Disorder, X-Linked 63 |
25 |
235 |
|
NRD086 |
Neurodevelopmental Disorder with Behavioral Abnormalities, Absent Speech, and Hypotonia |
25 |
236 |
|
INT389 |
Intellectual Developmental Disorder with Seizures and Language Delay |
25 |
237 |
c
|
INT388 |
Intellectual Developmental Disorder, Autosomal Dominant 62 |
25 |
238 |
c
|
INT426 |
Intellectual Developmental Disorder, X-Linked 41 |
24 |
239 |
|
INT377 |
Intellectual Developmental Disorder, Autosomal Dominant 63, with Macrocephaly |
23 |
240 |
|
DYS179 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
23 |
241 |
|
NRD063 |
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination |
23 |
242 |
c
|
INT406 |
Intellectual Developmental Disorder, X-Linked 58 |
22 |
243 |
|
NRD060 |
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia |
22 |
244 |
|
STB004 |
Setbp1 Haploinsufficiency Disorder |
22 |
245 |
c
|
INT386 |
Intellectual Developmental Disorder, Autosomal Dominant 59 |
21 |
246 |
c
|
INT577 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
21 |
247 |
c
|
INT573 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
21 |
248 |
c
|
INT496 |
Intellectual Developmental Disorder, X-Linked 45 |
20 |
249 |
|
CRP038 |
Corpus Callosum, Agenesis of, with Impaired Intellectual Development, Ocular Coloboma, and Micrognathia |
20 |
250 |
c
|
DVL142 |
Developmental and Epileptic Encephalopathy 107 |
19 |
251 |
|
DVL005 |
Developmental Dyspraxia |
19 |
252 |
|
INT343 |
Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects |
18 |
253 |
c
|
INT499 |
Intellectual Developmental Disorder, X-Linked 95 |
15 |
254 |
c
|
INT572 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
15 |
255 |
c
|
AMY091 |
Amyotrophic Lateral Sclerosis 1 |
87 |
256 |
P
|
PRK057 |
Parkinson Disease, Late-Onset |
81 |
257 |
P
|
HYP086 |
Hypothyroidism |
68 |
258 |
c
|
CNG006 |
Congenital Hypothyroidism |
64 |
259 |
c
|
PRK089 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
62 |
260 |
c
|
PRK086 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
55 |
261 |
c
|
AMY045 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
51 |
262 |
c
|
HRD173 |
Hereditary Late-Onset Parkinson Disease |
51 |
263 |
c
|
PRK071 |
Parkinson Disease 14, Autosomal Recessive |
48 |
264 |
|
OGD001 |
Ogden Syndrome |
48 |
265 |
c
|
PRK092 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
47 |
266 |
c
|
AMY069 |
Amyotrophic Lateral Sclerosis 21 |
47 |
267 |
c
|
AMY090 |
Amyotrophic Lateral Sclerosis 8 |
46 |
268 |
c
|
PRK065 |
Parkinson Disease 20, Early-Onset |
45 |
269 |
c
|
PRK093 |
Parkinson Disease 8, Autosomal Dominant |
44 |
270 |
c
|
AMY058 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
44 |
271 |
c
|
PRK021 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
43 |
272 |
c
|
PRK052 |
Parkinson Disease 17 |
43 |
273 |
c
|
AMY083 |
Amyotrophic Lateral Sclerosis 11 |
42 |
274 |
|
MST006 |
Mast Syndrome |
41 |
275 |
|
CHR662 |
Chromosome 15q13.3 Deletion Syndrome |
41 |
276 |
c
|
PRK091 |
Parkinson Disease 4, Autosomal Dominant |
41 |
277 |
c
|
AMY057 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
41 |
278 |
P
|
JVN050 |
Juvenile Amyotrophic Lateral Sclerosis |
41 |
279 |
c
|
PRK090 |
Parkinson Disease 3, Autosomal Dominant |
39 |
280 |
c
|
AMY088 |
Amyotrophic Lateral Sclerosis 3 |
38 |
281 |
c
|
PRK100 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
38 |
282 |
c
|
MJR008 |
Major Affective Disorder 2 |
38 |
283 |
c
|
ERL056 |
Early-Onset Parkinson's Disease |
38 |
284 |
c
|
AMY059 |
Amyotrophic Lateral Sclerosis 19 |
37 |
285 |
c
|
MJR024 |
Major Affective Disorder 9 |
37 |
286 |
c
|
AMY067 |
Amyotrophic Lateral Sclerosis 18 |
37 |
287 |
c
|
PRK070 |
Parkinson Disease 21 |
35 |
288 |
c
|
MJR022 |
Major Affective Disorder 8 |
34 |
289 |
c
|
MJR004 |
Major Affective Disorder 4 |
34 |
290 |
c
|
MJR003 |
Major Affective Disorder 6 |
34 |
291 |
c
|
MJR006 |
Major Affective Disorder 5 |
34 |
292 |
c
|
AMY085 |
Amyotrophic Lateral Sclerosis 9 |
33 |
293 |
|
HFN001 |
Hao-Fountain Syndrome |
33 |
294 |
c
|
AMY022 |
Amyotrophic Lateral Sclerosis Type 5 |
33 |
295 |
c
|
AMY094 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
32 |
296 |
c
|
AMY081 |
Amyotrophic Lateral Sclerosis Type 12 |
32 |
297 |
|
SZR027 |
Seizures, Cortical Blindness, and Microcephaly Syndrome |
32 |
298 |
c
|
AMY063 |
Amyotrophic Lateral Sclerosis 20 |
32 |
299 |
c
|
DVL114 |
Developmental and Epileptic Encephalopathy 91 |
31 |
300 |
c
|
AMY113 |
Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal Dementia |
31 |
301 |
c
|
PRK081 |
Parkinson Disease 19a, Juvenile-Onset |
30 |
302 |
c
|
HYP488 |
Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function |
28 |
303 |
|
SPS207 |
Spastic Paraplegia and Psychomotor Retardation with or Without Seizures |
28 |
304 |
c
|
DVL112 |
Developmental and Epileptic Encephalopathy 89 |
28 |
305 |
c
|
PRK083 |
Parkinson Disease 22, Autosomal Dominant |
27 |
306 |
c
|
DVL116 |
Developmental and Epileptic Encephalopathy 93 |
27 |
307 |
c
|
PRK098 |
Parkinson Disease 5, Autosomal Dominant |
27 |
308 |
c
|
AMY074 |
Amyotrophic Lateral Sclerosis Type 14 |
26 |
309 |
c
|
CNT101 |
Central Congenital Hypothyroidism |
26 |
310 |
c
|
DVL115 |
Developmental and Epileptic Encephalopathy 92 |
26 |
311 |
c
|
PRK099 |
Parkinson Disease 18, Autosomal Dominant |
26 |
312 |
|
PLR024 |
Pilarowski-Bjornsson Syndrome |
25 |
313 |
c
|
PRK094 |
Parkinson Disease 11, Autosomal Dominant |
24 |
314 |
c
|
PRK096 |
Parkinson Disease 13, Autosomal Dominant |
24 |
315 |
c
|
JVN058 |
Juvenile-Onset Parkinson's Disease |
24 |
316 |
c
|
AMY089 |
Amyotrophic Lateral Sclerosis 7 |
24 |
317 |
c
|
AMY110 |
Amyotrophic Lateral Sclerosis 24 |
23 |
318 |
c
|
AMY108 |
Amyotrophic Lateral Sclerosis 23 |
22 |
319 |
|
PCH022 |
Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures |
22 |
320 |
|
INT311 |
Intellectual Developmental Disorder with Neuropsychiatric Features |
21 |
321 |
c
|
FRN061 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8 |
21 |
322 |
c
|
PRK104 |
Parkinson Disease 24, Autosomal Dominant |
21 |
323 |
c
|
AMY112 |
Amyotrophic Lateral Sclerosis 25 |
20 |
324 |
c
|
PRK025 |
Parkinson Disease 10 |
20 |
325 |
c
|
PRK058 |
Parkinson Disease 16 |
20 |
326 |
c
|
PRM316 |
Primary Congenital Hypothyroidism |
19 |
327 |
|
SPN347 |
Spondyloepiphyseal Dysplasia Tarda with Mental Retardation |
17 |
328 |
|
ZRS001 |
Zori Stalker Williams Syndrome |
17 |
329 |
c
|
INT485 |
Intellectual Developmental Disorder, X-Linked 23 |
17 |
330 |
c
|
PRK022 |
Parkinson Disease 12 |
16 |
331 |
c
|
TRN047 |
Transient Congenital Hypothyroidism |
16 |
332 |
c
|
INT490 |
Intellectual Developmental Disorder, X-Linked 73 |
16 |
333 |
c
|
INT503 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
15 |
334 |
c
|
INT495 |
Intellectual Developmental Disorder, X-Linked 77 |
15 |
335 |
c
|
CNG263 |
Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs |
14 |
336 |
c
|
INT497 |
Intellectual Developmental Disorder, X-Linked 84 |
14 |
337 |
c
|
CNG543 |
Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies |
14 |
338 |
c
|
INT528 |
Intellectual Developmental Disorder, Autosomal Recessive 19 |
14 |
339 |
c
|
INT493 |
Intellectual Developmental Disorder, X-Linked 81 |
13 |
340 |
c
|
VPS003 |
Vps35-Related Parkinson Disease |
12 |
341 |
c
|
RRH009 |
Rare Hypothyroidism |
12 |
342 |
|
CHM008 |
Chmp2b Frontotemporal Dementia |
11 |
343 |
c
|
GNB002 |
Gnb5-Related Neurodevelopmental Disorder |
11 |
344 |
c
|
HNR003 |
Hnrnpu-Related Neurodevelopmental Disorder |
11 |
345 |
c
|
GRN056 |
Grin1-Related Neurodevelopmental Disorder |
10 |
346 |
c
|
HNR004 |
Hnrnph2-Related Neurodevelopmental Disorder |
10 |
347 |
c
|
INT491 |
Intellectual Developmental Disorder, X-Linked 42 |
10 |
348 |
c
|
CNG591 |
Congenital Hypothyroidism Due to Developmental Anomaly |
8 |
349 |
c
|
TRN076 |
Transient Congenital Hypothyroidism Due to Neonatal Factor |
5 |
350 |
c
|
HYP232 |
Hypothyroidism Due to Iodide Transport Defect |
5 |
351 |
c
|
TRN075 |
Transient Congenital Hypothyroidism Due to Maternal Factor |
5 |
352 |
c
|
RRD014 |
Rare Adult Hypothyroidism |
4 |
353 |
|
CNG438 |
Congenital Disorder of Glycosylation with Developmental Anomaly |
4 |
354 |
P
|
PTT014 |
Pitt-Hopkins Syndrome |
60 |
355 |
c
|
PTT029 |
Pitt-Hopkins-Like Syndrome 1 |
54 |
356 |
c
|
DVL118 |
Developmental and Epileptic Encephalopathy 94 |
46 |
357 |
c
|
PTT030 |
Pitt-Hopkins-Like Syndrome 2 |
45 |
358 |
|
CRB215 |
Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay |
37 |
359 |
|
AMM001 |
Amme Complex |
32 |
360 |
|
INT333 |
Intellectual Developmental Disorder with Autism and Speech Delay |
30 |
361 |
P
|
MCR352 |
Microphthalmia, Isolated, with Coloboma 6 |
30 |
362 |
|
CNG545 |
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies |
30 |
363 |
|
HYP717 |
Hypotonia, Infantile, with Psychomotor Retardation |
29 |
364 |
|
NRD037 |
Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies |
29 |
365 |
|
DVL024 |
Developmental Delay with or Without Dysmorphic Facies and Autism |
29 |
366 |
|
PRR044 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
27 |
367 |
c
|
DBT105 |
Diabetes Mellitus, Permanent Neonatal, 2 |
27 |
368 |
|
NRD039 |
Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language |
27 |
369 |
|
SHR133 |
Short Stature-Micrognathia Syndrome |
27 |
370 |
c
|
DVL120 |
Developmental and Epileptic Encephalopathy 95 |
27 |
371 |
|
INT310 |
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis |
27 |
372 |
|
CRB205 |
Cerebellar Atrophy with Seizures and Variable Developmental Delay |
27 |
373 |
|
INT571 |
Intellectual Developmental Disorder with Autism and Macrocephaly |
26 |
374 |
c
|
NBS001 |
Nabais Sa-De Vries Syndrome, Type 1 |
26 |
375 |
c
|
MCR214 |
Microphthalmia, Isolated, with Coloboma 9 |
26 |
376 |
|
INT366 |
Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities |
26 |
377 |
c
|
DVL127 |
Developmental and Epileptic Encephalopathy 98 |
26 |
378 |
c
|
DVL128 |
Developmental and Epileptic Encephalopathy 99 |
26 |
379 |
c
|
MCR349 |
Microphthalmia, Isolated, with Coloboma 3 |
26 |
380 |
c
|
CHD006 |
Chd2-Related Neurodevelopmental Disorders |
26 |
381 |
|
NRD109 |
Neurodevelopmental Disorder with Speech Impairment and Dysmorphic Facies |
26 |
382 |
|
MCR380 |
Microcephaly, Developmental Delay, and Brittle Hair Syndrome |
25 |
383 |
|
CRD247 |
Cardiofacioneurodevelopmental Syndrome |
25 |
384 |
|
TRC123 |
Trichohepatoneurodevelopmental Syndrome |
25 |
385 |
|
FCL093 |
Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome |
25 |
386 |
|
CRD243 |
Cardiac, Facial, and Digital Anomalies with Developmental Delay |
25 |
387 |
P
|
NBS002 |
Nabais Sa-De Vries Syndrome, Type 2 |
25 |
388 |
|
NRD043 |
Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities |
25 |
389 |
|
BRC106 |
Brachycephaly, Trichomegaly, and Developmental Delay |
25 |
390 |
c
|
DVL131 |
Developmental and Epileptic Encephalopathy 100 |
25 |
391 |
|
NRD072 |
Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities |
25 |
392 |
|
INT331 |
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay |
24 |
393 |
|
DVL125 |
Developmental Delay with or Without Intellectual Impairment or Behavioral Abnormalities |
24 |
394 |
|
ALK023 |
Al Kaissi Syndrome |
24 |
395 |
|
HYD052 |
Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia |
24 |
396 |
|
NRD144 |
Neurodevelopmental Disorder with Hyperkinetic Movements and Dyskinesia |
24 |
397 |
c
|
DNC008 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
24 |
398 |
|
ALZ064 |
Alzahrani-Kuwahara Syndrome |
24 |
399 |
|
INT363 |
Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies |
23 |
400 |
|
WHT021 |
White-Kernohan Syndrome |
23 |
401 |
|
NRD069 |
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment |
23 |
402 |
|
EPL253 |
Epilepsy, Early-Onset, with or Without Developmental Delay |
23 |
403 |
|
NRD147 |
Neurodevelopmental Disorder with or Without Variable Movement or Behavioral Abnormalities |
23 |
404 |
|
NRD045 |
Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills |
23 |
405 |
|
BRL013 |
Baralle-Macken Syndrome |
23 |
406 |
c
|
DVL132 |
Developmental and Epileptic Encephalopathy 101 |
22 |
407 |
|
NRD066 |
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements |
22 |
408 |
|
INT392 |
Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures |
22 |
409 |
|
DVL117 |
Developmental Delay with Dysmorphic Facies and Dental Anomalies |
22 |
410 |
c
|
PTT042 |
Pitt-Hopkins-Like Syndrome |
22 |
411 |
|
NRD142 |
Neurodevelopmental Disorder with Hearing Loss and Spasticity |
22 |
412 |
c
|
DVL121 |
Developmental and Epileptic Encephalopathy 96 |
22 |
413 |
|
CHR669 |
Chromosome 2p16.3 Deletion Syndrome |
22 |
414 |
|
INT347 |
Intellectual Developmental Disorder with Severe Speech and Ambulation Defects |
21 |
415 |
c
|
FRN062 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 5 |
21 |
416 |
|
NRD130 |
Neurodevelopmental Disorder with Motor and Speech Delay and Behavioral Abnormalities |
21 |
417 |
c
|
MCR350 |
Microphthalmia, Isolated, with Coloboma 5 |
21 |
418 |
|
INT376 |
Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia |
21 |
419 |
|
INT569 |
Intellectual Developmental Disorder with or Without Peripheral Neuropathy |
20 |
420 |
|
BRN151 |
Brunet-Wagner Neurodevelopmental Syndrome |
20 |
421 |
P
|
DNC006 |
Diencephalic-Mesencephalic Junction Dysplasia |
20 |
422 |
c
|
MCR210 |
Microphthalmia, Isolated, with Coloboma 7 |
19 |
423 |
c
|
MCR271 |
Microphthalmia, Isolated, with Coloboma 10 |
19 |
424 |
c
|
TSS007 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 2 |
19 |
425 |
|
SGM006 |
Segmental Odontomaxillary Dysplasia |
16 |
426 |
c
|
MCR335 |
Microphthalmia, Isolated, with Coloboma 4 |
14 |
427 |
c
|
MCR346 |
Microphthalmia, Isolated, with Coloboma 2 |
14 |
428 |
c
|
MCR338 |
Microphthalmia, Isolated, with Coloboma 1 |
13 |
429 |
|
PRK068 |
Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments |
12 |
430 |
P
|
HNT016 |
Huntington Disease |
72 |
431 |
|
WST001 |
West Syndrome |
64 |
432 |
c
|
KLF004 |
Kleefstra Syndrome 1 |
54 |
433 |
c
|
HNT004 |
Huntington Disease-Like 2 |
49 |
434 |
P
|
KLF001 |
Kleefstra Syndrome |
49 |
435 |
P
|
MGL002 |
Megalencephalic Leukoencephalopathy with Subcortical Cysts |
49 |
436 |
c
|
SPN296 |
Spinocerebellar Ataxia 17 |
49 |
437 |
c
|
MGL009 |
Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 |
47 |
438 |
|
CHR492 |
Chromosome 13q14 Deletion Syndrome |
47 |
439 |
|
CLB026 |
Colobomatous Microphthalmia |
46 |
440 |
c
|
MGL010 |
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a |
41 |
441 |
c
|
ALP076 |
Alopecia-Mental Retardation Syndrome 1 |
40 |
442 |
|
CHR704 |
Chromosome 16p11.2 Deletion Syndrome |
40 |
443 |
c
|
DYS172 |
Dystonia 27 |
38 |
444 |
|
GBR007 |
Gabriele-De Vries Syndrome |
36 |
445 |
|
HYP629 |
Hyperphosphatasia-Intellectual Disability Syndrome |
35 |
446 |
c
|
HNT011 |
Huntington Disease-Like 3 |
35 |
447 |
|
MCR183 |
Microcephaly-Capillary Malformation Syndrome |
35 |
448 |
P
|
INC034 |
Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 1 |
32 |
449 |
c
|
CTS048 |
Cutis Laxa, Autosomal Recessive, Type Iie |
31 |
450 |
|
BDV001 |
Bdv Syndrome |
30 |
451 |
c
|
INT425 |
Intellectual Developmental Disorder, X-Linked 19 |
30 |
452 |
|
MCR378 |
Microangiopathy and Leukoencephalopathy, Pontine, Autosomal Dominant |
29 |
453 |
c
|
JVN015 |
Juvenile Huntington Disease |
28 |
454 |
|
FGS004 |
Fg Syndrome 4 |
27 |
455 |
|
PST103 |
Postpartum Psychosis |
27 |
456 |
|
DTS001 |
Diets-Jongmans Syndrome |
26 |
457 |
|
IMM146 |
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities |
26 |
458 |
|
PSD088 |
Pseudobulbar Affect |
25 |
459 |
|
NRD084 |
Neurodevelopmental Disorder with Absent Language and Variable Seizures |
25 |
460 |
c
|
KLF002 |
Kleefstra Syndrome Due to a Point Mutation |
25 |
461 |
c
|
INT427 |
Intellectual Developmental Disorder, X-Linked 90 |
24 |
462 |
c
|
INT411 |
Intellectual Developmental Disorder, X-Linked 72 |
24 |
463 |
|
CLF057 |
Cleft Palate, Proliferative Retinopathy, and Developmental Delay |
23 |
464 |
|
GLB025 |
Global Developmental Delay with or Without Impaired Intellectual Development |
22 |
465 |
|
INT327 |
Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia |
22 |
466 |
|
CMB112 |
Combined Oxidative Phosphorylation Deficiency 53 |
22 |
467 |
|
RCH010 |
Richieri-Costa/guion-Almeida Syndrome |
22 |
468 |
c
|
DVL134 |
Developmental and Epileptic Encephalopathy 102 |
22 |
469 |
c
|
DVL135 |
Developmental and Epileptic Encephalopathy 103 |
21 |
470 |
|
RLN005 |
Rolandic Epilepsy, Impaired Intellectual Development, and Speech Dyspraxia, X-Linked |
21 |
471 |
|
INT334 |
Intellectual Developmental Disorder and Retinitis Pigmentosa |
21 |
472 |
c
|
DVL141 |
Developmental and Epileptic Encephalopathy 106 |
21 |
473 |
|
DVL140 |
Developmental Delay, Hypotonia, and Impaired Language |
21 |
474 |
c
|
DVL136 |
Developmental and Epileptic Encephalopathy 104 |
20 |
475 |
|
GLB026 |
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine |
20 |
476 |
|
INT574 |
Intellectual Developmental Disorder with Language Impairment and Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
20 |
477 |
|
INT330 |
Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies |
20 |
478 |
|
INT580 |
Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects |
19 |
479 |
|
DVL139 |
Developmental and Epileptic Encephalopathy 105 with Hypopituitarism |
19 |
480 |
c
|
HNT013 |
Huntington Disease-Like Syndrome |
19 |
481 |
c
|
TSS008 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
19 |
482 |
c
|
INC035 |
Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 3 |
18 |
483 |
c
|
INT494 |
Intellectual Developmental Disorder, X-Linked 46 |
18 |
484 |
c
|
DVL143 |
Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 2 |
18 |
485 |
c
|
DVL011 |
Developmental Dysplasia of the Hip 2 |
18 |
486 |
|
INT581 |
Intellectual Developmental Disorder with Autism and Dysmorphic Facies |
18 |
487 |
c
|
TSS009 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
17 |
488 |
|
CRN269 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation |
17 |
489 |
|
DVL144 |
Developmental Delay, Behavioral Abnormalities, and Neuropsychiatric Disorders |
17 |
490 |
|
NRD178 |
Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities |
17 |
491 |
|
PLM162 |
Palmomental Reflex |
16 |
492 |
|
NRD157 |
Neurodevelopmental Disorder with Microcephaly, Hypotonia, Nystagmus, and Seizures |
16 |
493 |
|
NRD168 |
Neurodevelopmental Disorder with Hypotonia, Language Delay, and Skeletal Defects with or Without Seizures |
15 |
494 |
c
|
HNT014 |
Huntington Disease-Like Syndrome Due to C9orf72 Expansions |
15 |
495 |
|
NRD165 |
Neurodevelopmental Disorder with Microcephaly, Movement Abnormalities, and Seizures |
15 |
496 |
c
|
MGL041 |
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b |
14 |
497 |
|
NRD171 |
Neurodevelopmental Disorder with Short Stature, Prominent Forehead, and Feeding Difficulties |
14 |
498 |
|
DVL147 |
Developmental Delay with Variable Intellectual Disability and Dysmorphic Facies |
14 |
499 |
c
|
INT486 |
Intellectual Developmental Disorder, X-Linked 20 |
14 |
500 |
|
OSS015 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
14 |
501 |
|
CNT102 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
14 |
502 |
P
|
ALP110 |
Alopecia-Mental Retardation Syndrome |
13 |
503 |
c
|
DVL148 |
Developmental and Epileptic Encephalopathy 108 |
13 |
504 |
|
NRD167 |
Neurodevelopmental Disorder with Microcephaly, Short Stature, and Speech Delay |
12 |
505 |
c
|
DVL151 |
Developmental and Epileptic Encephalopathy 110 |
11 |
506 |
|
PM1001 |
Pum1-Associated Developmental Disability-Ataxia-Seizure Syndrome |
11 |
507 |
c
|
DVL150 |
Developmental and Epileptic Encephalopathy 109 |
10 |
508 |
|
DVL149 |
Developmental Delay, Language Impairment, and Ocular Abnormalities |
10 |
509 |
|
INT583 |
Intellectual Developmental Disorder with Ocular Anomalies and Distinctive Facial Features |
8 |
510 |
|
GRN066 |
Grin2b-Related Developmental Delay, Intellectual Disability and Autism Spectrum Disorder |
5 |
511 |
|
PRM330 |
Primary Congenital Hypothyroidism Without Thyroid Developmental Anomaly |
5 |
512 |
|
SGM005 |
Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia |
5 |
513 |
|
CRB216 |
Cerebellar Hyplasia/atrophy, Epilepsy, and Global Developmental Delay |
4 |
514 |
|
DVL152 |
Developmental Delay, Hypotrophy, and Dysmorphic Features Without Moebius Syndrome |
2 |
515 |
P
|
DMN002 |
Dementia |
72 |
516 |
c
|
CRB175 |
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 |
66 |
517 |
|
ACY005 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of |
55 |
518 |
c
|
ANT077 |
Anterior Segment Dysgenesis 1 |
52 |
519 |
P
|
CMP008 |
Compartment Syndrome |
51 |
520 |
P
|
ANT088 |
Anterior Segment Dysgenesis |
49 |
521 |
c
|
ANT085 |
Anterior Segment Dysgenesis 5 |
47 |
522 |
c
|
ANT071 |
Anterior Segment Dysgenesis 4 |
46 |
523 |
c
|
CRB170 |
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 |
44 |
524 |
c
|
SPS152 |
Spastic Paraplegia 51, Autosomal Recessive |
43 |
525 |
|
OLV002 |
Oliver Syndrome |
42 |
526 |
P
|
OVR082 |
Overgrowth Syndrome |
42 |
527 |
|
CHR523 |
Chromosome 15q11.2 Deletion Syndrome |
42 |
528 |
P
|
CRB188 |
Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy |
40 |
529 |
c
|
PK3004 |
Pik3ca-Related Overgrowth Spectrum |
38 |
530 |
|
MXL016 |
Maxillonasal Dysplasia, Binder Type |
38 |
531 |
c
|
ANT084 |
Anterior Segment Dysgenesis 3 |
38 |
532 |
c
|
AMY023 |
Amyotrophic Lateral Sclerosis Type 6 |
37 |
533 |
|
SPS226 |
Spastic Paraplegia, Ataxia, and Mental Retardation |
37 |
534 |
c
|
TRC125 |
Trichothiodystrophy 7, Nonphotosensitive |
36 |
535 |
c
|
SPS239 |
Spastic Paraplegia 82, Autosomal Recessive |
36 |
536 |
|
CHR381 |
Chromosome 17q23.1-Q23.2 Deletion Syndrome |
35 |
537 |
c
|
CNG378 |
Congenital Disorder of Glycosylation, Type Ir |
35 |
538 |
|
CMB044 |
Combined Oxidative Phosphorylation Deficiency 14 |
35 |
539 |
c
|
PK3005 |
Pik3ca-Related Overgrowth Syndrome |
32 |
540 |
|
CHR498 |
Chromosome 16p11.2 Duplication Syndrome |
32 |
541 |
c
|
TRC103 |
Trichothiodystrophy 5, Nonphotosensitive |
31 |
542 |
c
|
ANT083 |
Anterior Segment Dysgenesis 7 |
31 |
543 |
c
|
HYP890 |
Hyperphosphatasia with Impaired Intellectual Development Syndrome 2 |
30 |
544 |
P
|
CRD262 |
Cardiac Valvular Dysplasia 1 |
30 |
545 |
c
|
TRC117 |
Trichothiodystrophy 6, Nonphotosensitive |
30 |
546 |
|
SGM008 |
Segmental Dystonia |
29 |
547 |
|
VRV001 |
Ververi-Brady Syndrome |
29 |
548 |
|
CHR586 |
Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb |
28 |
549 |
|
CMB085 |
Combined Oxidative Phosphorylation Deficiency 35 |
27 |
550 |
c
|
ANT087 |
Anterior Segment Dysgenesis 6 |
26 |
551 |
|
VSS003 |
Vissers-Bodmer Syndrome |
26 |
552 |
c
|
VND004 |
Van Der Woude Syndrome 2 |
25 |
553 |
|
ENV003 |
Environmental Induced Asthma |
25 |
554 |
|
HRL002 |
Harlequin Syndrome |
24 |
555 |
c
|
AMY109 |
Amyotrophic Lateral Sclerosis Type 22 |
23 |
556 |
P
|
NNP004 |
Nonphotosensitive Trichothiodystrophy |
23 |
557 |
|
HYP823 |
Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome |
23 |
558 |
c
|
ANT010 |
Anterior Compartment Syndrome |
23 |
559 |
|
MLT146 |
Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism |
22 |
560 |
|
NRD053 |
Neurodevelopmental Disorder with Spasticity and Poor Growth |
22 |
561 |
|
ISL163 |
Isolated Childhood Apraxia of Speech |
21 |
562 |
|
PRR029 |
Pierre Robin Syndrome and Oligodactyly |
21 |
564 |
c
|
INT492 |
Intellectual Developmental Disorder, X-Linked 2 |
20 |
565 |
|
MCR052 |
Microcephaly Microcornea Syndrome Seemanova Type |
19 |
566 |
c
|
PNC122 |
Panic Disorder 1 |
19 |
567 |
|
NRD064 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion |
19 |
568 |
|
16P008 |
16p11.2 Duplication |
19 |
569 |
|
BRC121 |
Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation |
18 |
570 |
c
|
CRD263 |
Cardiac Valvular Dysplasia 2 |
18 |
571 |
c
|
GLY116 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
18 |
572 |
|
CHM001 |
Cahmr Syndrome |
17 |
573 |
|
MNT253 |
Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis |
17 |
574 |
|
GRN059 |
Grn Frontotemporal Dementia |
17 |
575 |
|
DND020 |
Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy |
16 |
576 |
|
CHR397 |
Chromosome Xp11.3 Deletion Syndrome |
16 |
577 |
c
|
INT487 |
Intellectual Developmental Disorder, X-Linked 14 |
15 |
578 |
c
|
SCN087 |
Scn3a-Related Neurodevelopmental Disorder |
15 |
579 |
|
NRD169 |
Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Absent Language |
14 |
580 |
|
FXP001 |
Foxp2-Related Speech and Language Disorders |
14 |
581 |
c
|
MJR021 |
Major Affective Disorder 3 |
13 |
582 |
|
THM019 |
Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay |
13 |
583 |
|
HYP688 |
Hypospadias-Mental Retardation Syndrome |
13 |
584 |
|
PRM291 |
Premature Aging Syndrome, Okamoto Type |
13 |
585 |
|
MTP032 |
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness |
13 |
586 |
|
DWR021 |
Dwarfism, Mental Retardation, and Eye Abnormality |
13 |
587 |
|
HYP816 |
Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes |
12 |
588 |
|
STR104 |
Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Facial Features |
12 |
589 |
|
MNT251 |
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face |
12 |
590 |
|
MNT316 |
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature |
12 |
591 |
|
ART149 |
Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies |
12 |
592 |
c
|
GRN068 |
Grin2d-Related Developmental and Epileptic Encephalopathy |
11 |
593 |
|
MNT039 |
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block |
11 |
594 |
|
MTR081 |
Motor Neuron Disease with Dementia and Ophthalmoplegia |
11 |
595 |
c
|
MPT002 |
Mapt-Related Frontotemporal Dementia |
11 |
596 |
|
SPS194 |
Spastic Paresis, Glaucoma, and Mental Retardation |
11 |
597 |
|
PRS056 |
Presenile Dementia, Kraepelin Type |
11 |
598 |
|
RDL032 |
Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia |
11 |
599 |
|
INT222 |
Intermediate Dend Syndrome |
10 |
600 |
|
ICH065 |
Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation |
10 |
601 |
|
HRD035 |
Hair Defect with Photosensitivity and Mental Retardation |
10 |
602 |
|
PCS004 |
Pacs1 Neurodevelopmental Disorder |
10 |
603 |
c
|
RRD051 |
Rare Dementia |
10 |
604 |
|
DVL026 |
Developmental Defect of the Eye |
10 |
605 |
|
SPS195 |
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation |
10 |
606 |
c
|
EZH001 |
Ezh2-Related Overgrowth |
10 |
607 |
|
ATX043 |
Ataxia with Myoclonic Epilepsy and Presenile Dementia |
10 |
608 |
|
ART029 |
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation |
10 |
609 |
|
HYP783 |
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly |
10 |
610 |
|
CTS047 |
Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation |
10 |
611 |
c
|
STD003 |
Setd1b-Related Neurodevelopmental Disorder |
9 |
612 |
|
BRC107 |
Brachmann-De Lange-Like Facial Changes with Microcephaly, Metatarsus Adductus, and Developmental Delay |
9 |
613 |
|
SPN397 |
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality |
9 |
614 |
|
DMN041 |
Dementia/parkinsonism with Non-Alzheimer Amyloid Plaques |
9 |
615 |
|
CTN035 |
Ctnnb1 Neurodevelopmental Disorder |
9 |
616 |
|
EPL197 |
Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation |
9 |
617 |
|
GRW037 |
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia |
9 |
618 |
c
|
PPP002 |
Ppp2r5d-Related Neurodevelopmental Disorder |
9 |
619 |
|
IND013 |
Indolylacroyl Glycinuria with Mental Retardation |
9 |
620 |
|
PSD115 |
Pseudouridinuria and Mental Defect |
8 |
621 |
c
|
EDR001 |
Eed-Related Overgrowth |
8 |
622 |
|
CRM008 |
Crumpled Helices and Small Mouth |
8 |
623 |
P
|
ATX048 |
Ataxia with Dementia |
8 |
624 |
|
GNT105 |
Genetic Dementia |
7 |
625 |
|
LTH051 |
Lethal Brain and Heart Developmental Defects |
7 |
626 |
|
MCR072 |
Microdontia Hypodontia Short Stature |
6 |
627 |
|
FCL048 |
Focal, Segmental or Multifocal Dystonia |
6 |
628 |
|
GNT069 |
Genetic Developmental Defect of the Eye |
6 |
629 |
|
NRD075 |
Neurodegenerative Disease with Dementia |
6 |
630 |
|
FBR095 |
Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation |
6 |
631 |
|
STR109 |
Structural Developmental Eye Defect |
5 |
632 |
|
SPN344 |
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation |
5 |
633 |
|
FRN054 |
Frontotemporal Degeneration with Dementia |
5 |
634 |
|
MCR342 |
Microcephaly, Macrotia, and Mental Retardation |
5 |
635 |
|
GN1002 |
Gnao1-Related Developmental Delay-Seizures-Movement Disorder Spectrum |
5 |
636 |
|
CHT003 |
Chitty Hall Webb Syndrome |
5 |
637 |
|
ANT094 |
Anterior Segment Developmental Anomaly Without Extraocular Manifestations |
4 |
638 |
P
|
SLC044 |
Slc12a2-Related Autosomal Dominant Infantile-Developmental Delay-Intellectual Disability-Sensorineural Deafness Syndrome |
4 |
639 |
|
ANT090 |
Anterior Segment Developmental Abnormality with Extraocular Manifestations |
4 |
640 |
c
|
INF189 |
Infectious Disease with Dementia |
3 |
641 |
|
AMY096 |
Amyloidosis of Gingiva and Conjunctiva with Intellectual Disability |
3 |
642 |
c
|
ERL061 |
Early-Onset Ataxia with Dementia |
3 |
643 |
c
|
LTN027 |
Late-Onset Ataxia with Dementia |
3 |
644 |
c
|
SLC045 |
Slc12a2-Related Developmental Delay-Intellectual Disability-Sensorineural Deafness Syndrome |
3 |
645 |
|
CNT055 |
Cantu Sanchez-Corona Hernandez Syndrome |
3 |
646 |
|
CRB214 |
Cerebral Lipidosis with Dementia |
3 |
647 |
|
DVL145 |
Developmental Cardiac Valvular Defect |
2 |
648 |
|
ANT091 |
Anterior Segment Developmental Anomaly of Genetic Origin |
2 |
649 |
c
|
ALZ065 |
Alzheimer Disease, Familial, 1 |
87 |
650 |
|
GLL008 |
Gilles De La Tourette Syndrome |
66 |
651 |
P
|
CRN015 |
Cornelia De Lange Syndrome |
66 |
652 |
P
|
ALC033 |
Alcohol Use Disorder |
64 |
653 |
|
TBC004 |
Tobacco Addiction |
64 |
654 |
c
|
CRN139 |
Cornelia De Lange Syndrome 1 |
62 |
655 |
|
ETN001 |
Eating Disorder |
58 |
656 |
|
VSC002 |
Vascular Dementia |
57 |
657 |
P
|
FTL001 |
Fetal Alcohol Syndrome |
57 |
658 |
c
|
ALZ056 |
Alzheimer Disease 3 |
56 |
659 |
|
AMN003 |
Amnestic Disorder |
56 |
660 |
|
OPT003 |
Opiate Dependence |
55 |
661 |
P
|
AGN002 |
Agnosia |
55 |
662 |
|
ACT084 |
Acute Stress Disorder |
53 |
663 |
|
TRC010 |
Trichotillomania |
52 |
664 |
c
|
ERL029 |
Early-Onset, Autosomal Dominant Alzheimer Disease |
52 |
665 |
P
|
SBS003 |
Substance Abuse |
51 |
666 |
|
PNG002 |
Pain Agnosia |
50 |
667 |
c
|
GNR039 |
Generalized Epilepsy with Febrile Seizures Plus, Type 2 |
49 |
668 |
|
PTH002 |
Pathological Gambling |
49 |
669 |
c
|
ALZ049 |
Alzheimer Disease 2 |
48 |
670 |
|
SBC016 |
Subacute Delirium |
48 |
671 |
c
|
ALZ054 |
Alzheimer Disease 4 |
48 |
672 |
c
|
ALZ045 |
Alzheimer Disease 9 |
48 |
673 |
c
|
SPN293 |
Spinocerebellar Ataxia 12 |
48 |
674 |
|
SMT001 |
Somatization Disorder |
48 |
675 |
|
CCN002 |
Cocaine Abuse |
47 |
676 |
c
|
GNR043 |
Generalized Epilepsy with Febrile Seizures Plus, Type 7 |
47 |
677 |
|
WTH001 |
Withdrawal Disorder |
47 |
678 |
|
DLY008 |
Delayed Sleep Phase Disorder |
47 |
679 |
|
ALX001 |
Alexia |
46 |
680 |
|
SBS004 |
Substance Dependence |
45 |
681 |
|
GND019 |
Gender Incongruence |
45 |
682 |
|
DRG003 |
Drug Dependence |
45 |
683 |
c
|
ALZ062 |
Alzheimer Disease 19 |
45 |
684 |
|
SPC005 |
Speech Disorder |
45 |
685 |
|
CNN002 |
Cannabis Abuse |
45 |
686 |
|
NRD132 |
Neurodevelopmental Disorder with Hypotonia, Stereotypic Hand Movements, and Impaired Language |
45 |
687 |
c
|
CHR056 |
Chronic Tic Disorder |
44 |
688 |
|
OPD001 |
Opioid Abuse |
44 |
689 |
|
ATY001 |
Atypical Depressive Disorder |
44 |
690 |
|
HRN003 |
Heroin Dependence |
43 |
691 |
|
MTS001 |
Mutism |
43 |
692 |
|
PHB003 |
Phobia, Specific |
43 |
693 |
|
NMN001 |
Nominal Aphasia |
43 |
694 |
|
BNS003 |
Binswanger's Disease |
42 |
695 |
|
SXL006 |
Sexual Health Disorder |
42 |
696 |
P
|
PRK105 |
Parkinsonism-Dystonia 1, Infantile-Onset |
42 |
697 |
c
|
SPS104 |
Spastic Paraplegia 53, Autosomal Recessive |
42 |
698 |
|
NNT008 |
Neonatal Abstinence Syndrome |
42 |
699 |
|
CNN001 |
Cannabis Dependence |
41 |
700 |
c
|
GNR038 |
Generalized Epilepsy with Febrile Seizures Plus, Type 1 |
41 |
701 |
|
MRP001 |
Morphine Dependence |
40 |
702 |
|
RTR001 |
Retrograde Amnesia |
40 |
703 |
|
PRM020 |
Premenstrual Tension |
40 |
704 |
|
HYP030 |
Hypoactive Sexual Desire Disorder |
40 |
705 |
c
|
SCH079 |
Schizophrenia 1 |
40 |
706 |
|
MLN003 |
Melancholia |
40 |
707 |
|
ANS006 |
Anosognosia |
40 |
708 |
c
|
KLF005 |
Kleefstra Syndrome 2 |
39 |
709 |
|
SBJ001 |
Subjective Cognitive Decline |
39 |
710 |
|
FCT008 |
Factitious Disorder |
39 |
711 |
|
AGR018 |
Agraphia |
38 |
712 |
|
PRM003 |
Premature Ejaculation |
38 |
713 |
|
KLP001 |
Kleptomania |
38 |
714 |
|
AMP007 |
Amphetamine Abuse |
37 |
715 |
|
STR015 |
Stereotypic Movement Disorder |
37 |
716 |
c
|
ALZ058 |
Alzheimer Disease 11 |
37 |
717 |
c
|
ZMM002 |
Zimmermann-Laband Syndrome 1 |
37 |
718 |
|
PHY002 |
Physical Disorder |
37 |
719 |
|
ALX002 |
Alexithymia |
36 |
720 |
|
PRD002 |
Periodic Limb Movement Disorder |
36 |
721 |
|
ECH002 |
Echolalia |
36 |
722 |
|
PCD001 |
Pica Disease |
36 |
723 |
c
|
ERL020 |
Early-Onset Schizophrenia |
36 |
724 |
c
|
DYR001 |
Dyrk1a-Related Intellectual Disability Syndrome |
35 |
725 |
c
|
ALZ057 |
Alzheimer Disease 10 |
35 |
726 |
|
CHP003 |
Chopra-Amiel-Gordon Syndrome |
35 |
727 |
|
PDP001 |
Pedophilia |
35 |
728 |
c
|
ALZ063 |
Alzheimer's Disease 1 |
35 |
729 |
|
CHR226 |
Chromosome 1q41-Q42 Deletion Syndrome |
34 |
730 |
|
CHR524 |
Chromosome 16p13.3 Duplication Syndrome |
34 |
731 |
c
|
SCH045 |
Schizophrenia 12 |
34 |
732 |
|
ATY003 |
Atypical Autism |
34 |
733 |
P
|
SYN057 |
Syndromic Intellectual Disability |
33 |
734 |
c
|
GNR034 |
Generalized Epilepsy with Febrile Seizures Plus, Type 9 |
33 |
735 |
|
PYR003 |
Pyromania |
33 |
736 |
P
|
ZMM001 |
Zimmermann-Laband Syndrome |
33 |
737 |
|
ART014 |
Articulation Disorder |
33 |
738 |
|
TNN015 |
Tonne-Kalscheuer Syndrome |
32 |
739 |
P
|
SPC019 |
Specific Language Impairment |
32 |
740 |
c
|
ALC016 |
Alcohol Sensitivity, Acute |
32 |
741 |
|
FLY001 |
Flying Phobia |
32 |
742 |
c
|
EPL009 |
Epilepsy Progressive Myoclonic Type 3 |
32 |
743 |
|
RFQ001 |
Rafiq Syndrome |
31 |
744 |
|
CPG001 |
Capgras Syndrome |
31 |
745 |
|
SBS005 |
Substance-Induced Psychosis |
31 |
746 |
|
GRD004 |
Gardner-Diamond Syndrome |
31 |
747 |
|
GBT001 |
Gaba-Transaminase Deficiency |
31 |
748 |
c
|
ALZ050 |
Alzheimer Disease 5 |
30 |
749 |
|
SXL001 |
Sexual Sadism |
30 |
750 |
|
PSY003 |
Psychosexual Disorder |
30 |
751 |
c
|
ALZ012 |
Alzheimer Disease 12 |
29 |
752 |
c
|
SCH083 |
Schizophrenia 7 |
29 |
753 |
|
CHR268 |
Chromosome 8q Duplication |
29 |
754 |
|
ODN024 |
O'donnell-Luria-Rodan Syndrome |
29 |
755 |
|
CHR248 |
Chromosome 4p Duplication |
29 |
756 |
c
|
RNG020 |
Ring Chromosome 4 |
28 |
757 |
c
|
ALZ059 |
Alzheimer Disease 13 |
28 |
758 |
c
|
SCH052 |
Schizophrenia 14 |
28 |
759 |
|
MNC002 |
Munchausen by Proxy |
28 |
760 |
|
ANM002 |
Animal Phobia |
28 |
761 |
c
|
CFF012 |
Coffin-Siris Syndrome 7 |
27 |
762 |
c
|
GNR040 |
Generalized Epilepsy with Febrile Seizures Plus, Type 4 |
27 |
763 |
|
GTP001 |
Gait Apraxia |
27 |
764 |
|
WRT002 |
Writing Disorder |
27 |
765 |
|
FTS001 |
Fetishism |
27 |
766 |
c
|
ATS367 |
Autism X-Linked 3 |
26 |
767 |
c
|
CFF006 |
Coffin-Siris Syndrome 5 |
26 |
768 |
|
PRP015 |
Paraphilia Disorder |
26 |
769 |
|
AMS001 |
Amusia |
26 |
770 |
c
|
ALZ016 |
Alzheimer Disease 8 |
26 |
771 |
c
|
ALZ014 |
Alzheimer Disease 16 |
26 |
772 |
|
TRN006 |
Transvestism |
26 |
773 |
c
|
SCH081 |
Schizophrenia 6 |
26 |
774 |
|
BCK019 |
Beck-Fahrner Syndrome |
26 |
775 |
|
IMG002 |
Imagawa-Matsumoto Syndrome |
25 |
776 |
|
BRB003 |
Barbiturate Abuse |
25 |
777 |
|
CHR241 |
Chromosome 2q24 Microdeletion Syndrome |
25 |
778 |
|
ALC003 |
Alcoholic Psychosis |
25 |
779 |
c
|
ALZ015 |
Alzheimer Disease 6 |
25 |
780 |
c
|
GNR046 |
Generalized Epilepsy with Febrile Seizures Plus, Type 10 |
25 |
781 |
|
MXD044 |
Mixed Sleep Apnea |
24 |
782 |
c
|
ATS365 |
Autism X-Linked 1 |
24 |
783 |
|
NSP004 |
Nosophobia |
24 |
784 |
c
|
ALZ061 |
Alzheimer Disease 15 |
24 |
785 |
c
|
RNG006 |
Ring Chromosome 11 |
24 |
786 |
|
VYR001 |
Voyeurism |
24 |
787 |
|
BST003 |
Bestiality |
24 |
788 |
|
HLL005 |
Hallucinogen Dependence |
24 |
789 |
c
|
TRN005 |
Transient Tic Disorder |
24 |
790 |
|
CHR634 |
Chromosome 16p12.1 Deletion Syndrome, 520-Kb |
23 |
791 |
c
|
ALZ032 |
Alzheimer Disease 18 |
23 |
792 |
c
|
ZMM003 |
Zimmermann-Laband Syndrome 2 |
23 |
793 |
|
TCT002 |
Tactile Agnosia |
23 |
794 |
c
|
GNR013 |
Generalized Epilepsy with Febrile Seizures Plus, Type 6 |
23 |
795 |
c
|
ALZ053 |
Alzheimer Disease 7 |
23 |
796 |
|
ASS001 |
Associative Agnosia |
23 |
797 |
|
FNG001 |
Finger Agnosia |
23 |
798 |
|
CTF001 |
Catifa Syndrome |
23 |
799 |
|
AKN001 |
Akinetopsia |
22 |
800 |
c
|
ALZ060 |
Alzheimer Disease 14 |
22 |
801 |
|
SXL002 |
Sexual Masochism |
22 |
802 |
c
|
ALZ031 |
Alzheimer Disease 17 |
22 |
803 |
c
|
PRK106 |
Parkinsonism-Dystonia 2, Infantile-Onset |
22 |
804 |
c
|
MCR383 |
Microcephaly 27, Primary, Autosomal Dominant |
22 |
805 |
c
|
ZMM004 |
Zimmermann-Laband Syndrome 3 |
22 |
806 |
|
DLP001 |
Delpire-Mcneill Syndrome |
21 |
807 |
c
|
RTS004 |
Ritscher-Schinzel Syndrome 3 |
21 |
808 |
|
PHN001 |
Phencyclidine Abuse |
21 |
809 |
c
|
MSC139 |
Mosaic Variegated Aneuploidy Syndrome 3 |
21 |
810 |
c
|
SCH086 |
Schizophrenia 11 |
21 |
811 |
|
1Q4001 |
1q44 Microdeletion Syndrome |
21 |
812 |
|
EDN001 |
Edinburgh Malformation Syndrome |
20 |
813 |
|
MSC148 |
Musical Perfect Pitch |
20 |
814 |
c
|
LKD037 |
Leukodystrophy, Hypomyelinating, 24 |
20 |
815 |
c
|
ATS377 |
Autism 16 |
20 |
816 |
c
|
FRM002 |
Form Agnosia |
20 |
817 |
c
|
SPC027 |
Specific Language Impairment 1 |
19 |
818 |
c
|
INT307 |
Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation |
19 |
819 |
c
|
SPC023 |
Specific Language Impairment 5 |
19 |
820 |
|
ATT001 |
Autotopagnosia |
18 |
821 |
|
BRD027 |
Braddock Jones Superneau Syndrome |
18 |
822 |
c
|
HVP001 |
Hivep2-Related Intellectual Disability |
18 |
823 |
|
CNG607 |
Congenital Disorder of Glycosylation, Type Icc |
18 |
824 |
c
|
GNR042 |
Generalized Epilepsy with Febrile Seizures Plus, Type 8 |
17 |
825 |
|
20P001 |
20p12.3 Microdeletion Syndrome |
17 |
826 |
|
TPG001 |
Topographical Agnosia |
17 |
827 |
|
AST004 |
Astereognosia |
17 |
828 |
|
ADS003 |
Aids Phobia |
16 |
829 |
|
BRB002 |
Barbiturate Dependence |
16 |
830 |
c
|
SPC028 |
Specific Language Impairment 2 |
16 |
831 |
c
|
ATS177 |
Autism X-Linked 5 |
16 |
832 |
|
MXD002 |
Mixed Receptive-Expressive Language Disorder |
16 |
833 |
|
CLT002 |
Cluttering |
15 |
834 |
c
|
NNS090 |
Non-Syndromic X-Linked Intellectual Disability 82 |
14 |
835 |
c
|
ATS403 |
Autosomal Dominant Intellectual Disability 40 |
14 |
836 |
|
CLR009 |
Color Agnosia |
14 |
837 |
P
|
LTN003 |
Late-Onset Familial Alzheimer Disease |
14 |
838 |
c
|
ATS348 |
Autosomal Dominant Intellectual Disability 30 |
13 |
839 |
c
|
NNS080 |
Non-Syndromic X-Linked Intellectual Disability 89 |
13 |
840 |
c
|
ATS360 |
Autosomal Recessive Intellectual Disability 58 |
13 |
841 |
c
|
NNS077 |
Non-Syndromic X-Linked Intellectual Disability 14 |
13 |
842 |
|
INT031 |
Integrative Agnosia |
12 |
843 |
c
|
RRS015 |
Rare Syndromic Intellectual Disability |
12 |
844 |
c
|
SPC015 |
Specific Language Impairment 4 |
12 |
845 |
|
HLL002 |
Hallucinogen Abuse |
11 |
846 |
c
|
SPC029 |
Specific Language Impairment 3 |
11 |
847 |
c
|
TSB001 |
T-Substance Anomaly |
11 |
848 |
|
MRR002 |
Mirror Agnosia |
11 |
849 |
c
|
NNS092 |
Non-Syndromic X-Linked Intellectual Disability 46 |
10 |
850 |
c
|
NNS084 |
Non-Syndromic X-Linked Intellectual Disability 77 |
10 |
851 |
P
|
RRN017 |
Rare Intellectual Disability |
10 |
852 |
c
|
WCR002 |
Wac-Related Intellectual Disability |
9 |
853 |
c
|
NNS078 |
Non-Syndromic X-Linked Intellectual Disability 45 |
9 |
854 |
|
PSY001 |
Psychologic Vaginismus |
9 |
855 |
c
|
WDR002 |
Wdr26-Related Intellectual Disability |
9 |
856 |
c
|
TRR002 |
Trio-Related Intellectual Disability |
9 |
857 |
c
|
NNS075 |
Non-Syndromic X-Linked Intellectual Disability 20 |
8 |
858 |
|
PSY002 |
Psychologic Dyspareunia |
7 |
859 |
|
SCL006 |
Social Emotional Agnosia |
6 |
860 |
|
TMG001 |
Time Agnosia |
5 |
861 |
c
|
DDX001 |
Ddx3x-Related Intellectual Disability |
4 |
862 |
|
SMN003 |
Semantic Agnosia |
4 |
863 |
|
ANT016 |
Antidepressant Type Abuse |
4 |
864 |
|
SYN172 |
Syndromic X-Linked Intellectual Disorder Lujan-Fryns-Type |
3 |
865 |
P
|
FRN044 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 |
62 |
866 |
c
|
FRN059 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 |
51 |
867 |
c
|
FRN043 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 |
40 |
868 |
P
|
CRB185 |
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 |
52 |
869 |
|
MSS001 |
Masa Syndrome |
62 |
870 |
c
|
NRP053 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iia |
69 |
871 |
c
|
NRP054 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iii |
67 |
872 |
c
|
NRP037 |
Neuropathy, Hereditary Sensory and Autonomic, Type V |
59 |
873 |
P
|
PLY180 |
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 |
58 |
874 |
c
|
HRD201 |
Hereditary Sensory and Autonomic Neuropathy Type 1 |
56 |
875 |
c
|
NRP033 |
Neuropathy, Hereditary Sensory and Autonomic, Type Ia |
47 |
876 |
c
|
NRP031 |
Neuropathy, Hereditary Sensory and Autonomic, Type Vii |
47 |
877 |
c
|
NRP038 |
Neuropathy, Hereditary Sensory and Autonomic, Type Vi |
47 |
878 |
c
|
NRP040 |
Neuropathy, Hereditary Sensory and Autonomic, Type Ic |
43 |
879 |
c
|
NRP044 |
Neuropathy, Hereditary Sensory and Autonomic, Type Viii |
42 |
880 |
c
|
NRP018 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iib |
35 |
881 |
c
|
ATS273 |
Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy |
7 |
882 |
P
|
ATS271 |
Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy |
5 |
883 |
P
|
LKN033 |
Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1 |
63 |
884 |
c
|
LKN034 |
Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2 |
22 |
885 |
|
NRD118 |
Neurodevelopmental Disorder with or Without Autism or Seizures |
24 |
886 |
P
|
NRD034 |
Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant |
30 |
887 |
P
|
CTS001 |
Cutis Laxa |
57 |
888 |
c
|
CTS045 |
Cutis Laxa, Autosomal Dominant 1 |
57 |
889 |
c
|
CTS033 |
Cutis Laxa, Autosomal Recessive, Type Ic |
52 |
890 |
c
|
CTS029 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
48 |
891 |
c
|
CTS038 |
Cutis Laxa, Autosomal Recessive, Type Iia |
47 |
892 |
c
|
ATS392 |
Autosomal Recessive Cutis Laxa Type Iii |
47 |
893 |
c
|
CTS037 |
Cutis Laxa, Autosomal Recessive, Type Ib |
47 |
894 |
c
|
ATS393 |
Autosomal Recessive Cutis Laxa Type I |
46 |
895 |
c
|
CTS030 |
Cutis Laxa, Autosomal Recessive, Type Ia |
45 |
896 |
c
|
CTS041 |
Cutis Laxa, Autosomal Dominant 3 |
42 |
897 |
c
|
CTS032 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
39 |
898 |
c
|
CTS043 |
Cutis Laxa, Autosomal Recessive, Type Iid |
39 |
899 |
c
|
ATP003 |
Atp6v0a2-Related Cutis Laxa |
35 |
900 |
c
|
CTS031 |
Cutis Laxa, Autosomal Dominant 2 |
35 |
901 |
c
|
CTS044 |
Cutis Laxa, Autosomal Recessive, Type Iic |
25 |
902 |
c
|
ACQ027 |
Acquired Cutis Laxa |
20 |
903 |
c
|
LTB003 |
Ltbp4-Related Cutis Laxa |
19 |
904 |
c
|
FBL003 |
Fbln5-Related Cutis Laxa |
18 |
905 |
c
|
ELN002 |
Eln-Related Cutis Laxa |
14 |
906 |
c
|
EFM001 |
Efemp2-Related Cutis Laxa |
13 |
907 |
|
BCH004 |
Bachmann-Bupp Syndrome |
36 |
908 |
c
|
DYS056 |
Dystonia 12 |
67 |
909 |
P
|
DYS154 |
Dystonia |
66 |
910 |
c
|
DVL042 |
Developmental and Epileptic Encephalopathy 14 |
62 |
911 |
|
EPL258 |
Epilepsy, Focal, with Speech Disorder and with or Without Impaired Intellectual Development |
61 |
912 |
c
|
DYS059 |
Dystonia 16 |
46 |
913 |
c
|
DYS119 |
Dystonia 9 |
43 |
914 |
|
GRN060 |
Grn-Related Frontotemporal Lobar Degeneration |
43 |
915 |
c
|
FRN040 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 |
39 |
916 |
c
|
DYS151 |
Dystonia 25 |
37 |
917 |
|
GLB024 |
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor |
37 |
918 |
c
|
DYS146 |
Dystonia 24 |
36 |
919 |
c
|
DYS162 |
Dystonia, Juvenile-Onset |
35 |
920 |
c
|
DYS145 |
Dystonia 23 |
33 |
921 |
|
DVL031 |
Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects |
28 |
922 |
|
NRD101 |
Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly |
27 |
923 |
c
|
DYS212 |
Dystonia 30 |
25 |
924 |
|
NRD085 |
Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures |
24 |
925 |
c
|
DYS138 |
Dystonia 21 |
23 |
926 |
c
|
DYS216 |
Dystonia 32 |
23 |
927 |
c
|
DYS214 |
Dystonia 31 |
22 |
928 |
c
|
KMT002 |
Kmt2b-Related Dystonia |
21 |
929 |
c
|
HRD198 |
Hereditary Dystonia |
21 |
930 |
c
|
DYS223 |
Dystonia 28 |
21 |
931 |
c
|
RRD039 |
Rare Dystonia |
9 |
932 |
P
|
PRN023 |
Prion Disease |
59 |
933 |
c
|
SPS151 |
Spastic Paraplegia 11, Autosomal Recessive |
52 |
934 |
P
|
AMY106 |
Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia |
45 |
935 |
|
ALP094 |
Alpha Thalassemia-Intellectual Disability Syndrome Type 1 |
36 |
936 |
|
NRD091 |
Neurodevelopmental Disorder with Hypotonia and Impaired Expressive Language and with or Without Seizures |
29 |
937 |
c
|
CRB136 |
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 |
28 |
938 |
c
|
INH032 |
Inherited Human Prion Disease |
25 |
939 |
c
|
CRB195 |
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 |
24 |
940 |
c
|
CRB141 |
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 |
24 |
941 |
|
NRD145 |
Neurodevelopmental Disorder, Nonprogressive, with Spasticity and Transient Opisthotonus |
23 |
942 |
|
ALP091 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
19 |
943 |
c
|
ACQ069 |
Acquired Human Prion Disease |
10 |
944 |
c
|
SPR154 |
Sporadic Human Prion Disease |
10 |
945 |
|
KFR001 |
Kufor-Rakeb Syndrome |
60 |
946 |
|
CRB151 |
Cerebral Creatine Deficiency Syndrome 1 |
56 |
947 |
c
|
CHR630 |
Chorea, Benign Hereditary |
42 |
948 |
c
|
DVL062 |
Developmental and Epileptic Encephalopathy 35 |
42 |
949 |
|
MNT252 |
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy |
38 |
950 |
|
NRD028 |
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies |
32 |
951 |
|
NRD031 |
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination |
25 |
952 |
P
|
CHR636 |
Chorea, Benign Familial |
12 |
953 |
|
MNT257 |
Mental Retardation, X-Linked, with Craniofacial Dysmorphism |
11 |
954 |
|
ALX003 |
Alexander Disease |
63 |
955 |
|
CRD075 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
49 |
956 |
|
NRD102 |
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities |
35 |
957 |
|
NRD038 |
Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy |
34 |
958 |
|
NRP071 |
Neuropathy, Hereditary Sensory and Autonomic, Type Ix, with Developmental Delay |
33 |
959 |
|
NRD129 |
Neurodevelopmental Disorder with Neonatal Respiratory Insufficiency, Hypotonia, and Feeding Difficulties |
32 |
960 |
|
NRD057 |
Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects |
30 |
961 |
c
|
FCL091 |
Focal Segmental Glomerulosclerosis 10 |
30 |
962 |
P
|
OBS015 |
Obesity, Hyperphagia, and Developmental Delay |
25 |
963 |
|
NRD067 |
Neurodevelopmental Disorder with or Without Variable Brain Abnormalities |
25 |
964 |
|
NRD107 |
Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech, and Hypotonia |
25 |
965 |
|
NRD105 |
Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Imaging Abnormalities |
24 |
966 |
|
NRD040 |
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter |
23 |
967 |
c
|
NRD041 |
Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive |
23 |
968 |
|
NRD112 |
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities |
23 |
969 |
|
INT391 |
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy |
22 |
970 |
|
NRD113 |
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities |
21 |
971 |
|
NRD095 |
Neurodevelopmental Disorder with or Without Autistic Features and/or Structural Brain Abnormalities |
21 |
972 |
|
SBN004 |
Sabinas Brittle Hair Syndrome |
16 |
973 |
|
INS024 |
Insulin-Like Growth Factor I |
77 |
974 |
c
|
MLT128 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
52 |
975 |
P
|
MLT140 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
49 |
976 |
c
|
MLT126 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
48 |
977 |
|
AND001 |
Anodontia |
46 |
978 |
c
|
MLT127 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
46 |
979 |
P
|
HYP888 |
Hyperphosphatasia with Impaired Intellectual Development Syndrome 1 |
41 |
980 |
P
|
GLY112 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
39 |
981 |
|
SMT020 |
Smith-Kingsmore Syndrome |
39 |
982 |
|
KHR001 |
Kahrizi Syndrome |
34 |
983 |
|
NRD036 |
Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures |
33 |
984 |
c
|
HYP891 |
Hyperphosphatasia with Impaired Intellectual Development Syndrome 4 |
30 |
985 |
c
|
GLY103 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
28 |
986 |
|
IMP020 |
Impaired Intellectual Development and Distinctive Facial Features with or Without Cardiac Defects |
28 |
987 |
|
NRD023 |
Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language |
27 |
988 |
c
|
GLY106 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
27 |
989 |
|
NRD054 |
Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures |
27 |
990 |
|
NRD049 |
Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or Without Seizures |
26 |
991 |
c
|
HYP889 |
Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 |
26 |
992 |
c
|
GLY107 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
23 |
993 |
c
|
ALP114 |
Alopecia-Intellectual Disability Syndrome 2 |
18 |
994 |
|
PCH018 |
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts |
15 |
995 |
|
ACR008 |
Acrocallosal Syndrome |
67 |
996 |
P
|
ANG001 |
Angelman Syndrome |
64 |
997 |
|
PRR007 |
Perry Syndrome |
52 |
998 |
c
|
CRD181 |
Ceroid Lipofuscinosis, Neuronal, 8 |
45 |
999 |
|
TMT003 |
Temtamy Syndrome |
40 |
1000 |
|
PNT009 |
Pontine Tegmental Cap Dysplasia |
34 |
1001 |
|
NRD026 |
Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies |
32 |
1002 |
|
NRD108 |
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities |
32 |
1003 |
|
RNL120 |
Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation |
30 |
1004 |
|
MNT254 |
Mental Retardation Syndrome, Mietens-Weber Type |
25 |
1005 |
|
CLB035 |
Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Impaired Intellectual Development |
24 |
1006 |
|
LBN005 |
Lubani-Al Saleh-Teebi Syndrome |
22 |
1007 |
|
BLP044 |
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation |
22 |
1008 |
c
|
ANG059 |
Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 |
21 |
1009 |
c
|
ANG053 |
Angelman Syndrome Due to Maternal 15q11q13 Deletion |
20 |
1010 |
|
ICH068 |
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment |
20 |
1011 |
c
|
ANG052 |
Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 |
18 |
1012 |
|
WLF012 |
Wolff Mental Retardation Syndrome |
18 |
1013 |
P
|
MNT312 |
Mental Health Wellness 1 |
18 |
1014 |
|
PTR031 |
Pterygium Colli and Mental Retardation with Facial and Digital Anomalies |
18 |
1015 |
|
MNT311 |
Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration |
17 |
1016 |
c
|
PPP004 |
Ppp2r1a-Related Neurodevelopmental Disorder |
16 |
1017 |
|
KFF001 |
Kifafa Seizure Disorder |
15 |
1018 |
c
|
ANG058 |
Angelman Syndrome Due to a Point Mutation |
15 |
1019 |
|
RDL014 |
Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation |
15 |
1020 |
|
HLL013 |
Hall-Riggs Mental Retardation Syndrome |
14 |
1021 |
|
CRN293 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
13 |
1022 |
|
CTR173 |
Cataract, Ataxia, Short Stature, and Mental Retardation |
12 |
1023 |
|
SCH022 |
Schimke X-Linked Mental Retardation Syndrome |
12 |
1024 |
|
MGR041 |
Megarbane-Jalkh Syndrome |
11 |
1025 |
|
LMB066 |
Limb Defects, Distal Transverse, with Mental Retardation and Spasticity |
11 |
1026 |
c
|
MNT313 |
Mental Health Wellness 2 |
11 |
1027 |
|
ULN022 |
Ulnar Hypoplasia with Mental Retardation |
10 |
1028 |
|
PTR032 |
Peters-Plus Syndrome |
65 |
1029 |
P
|
MCR010 |
Microcephaly |
59 |
1030 |
|
MNK003 |
Muenke Syndrome |
59 |
1031 |
c
|
PRM031 |
Primary Autosomal Recessive Microcephaly |
51 |
1032 |
|
NCL006 |
Nicolaides-Baraitser Syndrome |
50 |
1033 |
c
|
MCR247 |
Microcephaly 1, Primary, Autosomal Recessive |
45 |
1034 |
c
|
MCR223 |
Microcephaly 10, Primary, Autosomal Recessive |
43 |
1035 |
c
|
MCR320 |
Microcephaly 17, Primary, Autosomal Recessive |
41 |
1036 |
|
ADS004 |
Aids Dementia Complex |
41 |
1037 |
c
|
SPN264 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
40 |
1038 |
c
|
MCR236 |
Microcephaly 13, Primary, Autosomal Recessive |
40 |
1039 |
c
|
PRM212 |
Primary Microcephaly |
39 |
1040 |
|
NRD029 |
Neurodevelopmental Disorder with Involuntary Movements |
39 |
1041 |
c
|
MCR250 |
Microcephaly 6, Primary, Autosomal Recessive |
38 |
1042 |
|
MLT178 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
38 |
1043 |
c
|
MCR238 |
Microcephaly 7, Primary, Autosomal Recessive |
38 |
1044 |
c
|
MCR314 |
Microcephaly 16, Primary, Autosomal Recessive |
37 |
1045 |
c
|
MCR270 |
Microcephaly 14, Primary, Autosomal Recessive |
37 |
1046 |
c
|
MCR322 |
Microcephaly 18, Primary, Autosomal Dominant |
37 |
1047 |
c
|
SPN200 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
36 |
1048 |
c
|
MCR248 |
Microcephaly 3, Primary, Autosomal Recessive |
36 |
1049 |
c
|
MCR246 |
Microcephaly 12, Primary, Autosomal Recessive |
35 |
1050 |
c
|
MCR249 |
Microcephaly 11, Primary, Autosomal Recessive |
33 |
1051 |
P
|
TSS006 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 1 |
32 |
1052 |
|
SPN352 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
32 |
1053 |
|
CRB165 |
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation |
31 |
1054 |
|
GTD002 |
Gatad2b-Associated Neurodevelopmental Disorder |
31 |
1055 |
|
DVL122 |
Developmental Delay, Impaired Speech, and Behavioral Abnormalities |
29 |
1056 |
P
|
ALP116 |
Alopecia-Intellectual Disability Syndrome 4 |
29 |
1057 |
|
DVL111 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy |
28 |
1058 |
|
NRD081 |
Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies |
27 |
1059 |
P
|
NRD134 |
Neurodevelopmental Disorder with Hypotonia and Dysmorphic Facies |
27 |
1060 |
|
NRD096 |
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures |
26 |
1061 |
c
|
DBT106 |
Diabetes Mellitus, Permanent Neonatal, 3 |
26 |
1062 |
c
|
MCR382 |
Microcephaly 26, Primary, Autosomal Dominant |
25 |
1063 |
|
NRD094 |
Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation |
25 |
1064 |
|
NRD115 |
Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities |
25 |
1065 |
|
NRD099 |
Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity |
25 |
1066 |
|
NRD088 |
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity |
25 |
1067 |
c
|
MCR360 |
Microcephaly 20, Primary, Autosomal Recessive |
25 |
1068 |
|
MRB008 |
Marbach-Schaaf Neurodevelopmental Syndrome |
24 |
1069 |
|
NRD092 |
Neurodevelopmental Disorder with Brain Anomalies, Seizures, and Scoliosis |
24 |
1070 |
|
NRD061 |
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities |
24 |
1071 |
|
NRD116 |
Neurodevelopmental Disorder with or Without Early-Onset Generalized Epilepsy |
24 |
1072 |
|
LKN030 |
Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome |
24 |
1073 |
|
NRD135 |
Neurodevelopmental Disorder with Hypotonia and Brain Abnormalities |
24 |
1074 |
c
|
MCR243 |
Microcephaly 8, Primary, Autosomal Recessive |
24 |
1075 |
|
CHL189 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
24 |
1076 |
|
NRD062 |
Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction |
24 |
1077 |
|
HTT003 |
Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
23 |
1078 |
|
NRD140 |
Neurodevelopmental Disorder with Impaired Language and Ataxia and with or Without Seizures |
23 |
1079 |
c
|
MCR361 |
Microcephaly 21, Primary, Autosomal Recessive |
23 |
1080 |
|
NRD119 |
Neurodevelopmental Disorder with Cerebral Atrophy and Variable Facial Dysmorphism |
23 |
1081 |
|
INT368 |
Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities |
23 |
1082 |
|
NRD044 |
Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features |
23 |
1083 |
|
ILL003 |
Illum Syndrome |
23 |
1084 |
|
INT568 |
Intellectual Developmental Disorder, Autosomal Recessive 75, with Neuropsychiatric Features and Variant Lissencephaly |
22 |
1085 |
|
NRD131 |
Neurodevelopmental Disorder with Dysmorphic Facies and Thin Corpus Callosum |
22 |
1086 |
|
NRD123 |
Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar Hypoplasia |
22 |
1087 |
c
|
MCR362 |
Microcephaly 22, Primary, Autosomal Recessive |
22 |
1088 |
|
HNG004 |
Hengel-Maroofian-Schols Syndrome |
21 |
1089 |
|
NRD122 |
Neurodevelopmental Disorder with Spasticity, Cataracts, and Cerebellar Hypoplasia |
21 |
1090 |
|
NRD042 |
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy |
21 |
1091 |
c
|
NRD152 |
Neurodevelopmental Disorder with Central Hypotonia and Dysmorphic Facies |
21 |
1092 |
c
|
MCR372 |
Microcephaly 25, Primary, Autosomal Recessive |
21 |
1093 |
|
NRD136 |
Neurodevelopmental Disorder with Seizures and Brain Abnormalities |
20 |
1094 |
|
NRD126 |
Neurodevelopmental Disorder with Cerebellar Atrophy and Motor Dysfunction |
20 |
1095 |
c
|
MCR363 |
Microcephaly 23, Primary, Autosomal Recessive |
20 |
1096 |
|
NRD127 |
Neurodevelopmental Disorder with Infantile Epileptic Spasms |
19 |
1097 |
|
NRD146 |
Neurodevelopmental Disorder with Microcephaly, Seizures, and Neonatal Cholestasis |
19 |
1098 |
|
NRD111 |
Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy |
19 |
1099 |
c
|
MCR368 |
Microcephaly 24, Primary, Autosomal Recessive |
19 |
1100 |
|
NRD110 |
Neurodevelopmental Disorder with Seizures and Brain Atrophy |
19 |
1101 |
c
|
MCR391 |
Microcephaly 29, Primary, Autosomal Recessive |
19 |
1102 |
c
|
MCR386 |
Microcephaly 28, Primary, Autosomal Recessive |
18 |
1103 |
c
|
NRD033 |
Neurodegeneration with Brain Iron Accumulation 2a |
69 |
1104 |
c
|
CNG411 |
Congenital Disorder of Glycosylation, Type in |
67 |
1105 |
c
|
NRD017 |
Neurodegeneration with Brain Iron Accumulation 1 |
64 |
1106 |
c
|
CNG415 |
Congenital Disorder of Glycosylation, Type Ia |
61 |
1107 |
c
|
BSL024 |
Basal Cell Carcinoma 1 |
59 |
1108 |
c
|
CNG389 |
Congenital Disorder of Glycosylation, Type Iim |
59 |
1109 |
c
|
RBN021 |
Rubinstein-Taybi Syndrome 1 |
57 |
1110 |
P
|
WRB002 |
Warburg Micro Syndrome 1 |
56 |
1111 |
c
|
NRD008 |
Neurodegeneration with Brain Iron Accumulation 3 |
56 |
1112 |
c
|
NRD032 |
Neurodegeneration with Brain Iron Accumulation 5 |
56 |
1113 |
|
TRD006 |
Tardive Dyskinesia |
53 |
1114 |
c
|
CNG191 |
Congenital Disorder of Glycosylation, Type Iia |
52 |
1115 |
P
|
NRD007 |
Neurodegeneration with Brain Iron Accumulation |
52 |
1116 |
|
IMM166 |
Immunodeficiency 27a |
52 |
1117 |
c
|
CNG203 |
Congenital Disorder of Glycosylation, Type Iii |
52 |
1118 |
c
|
CNG208 |
Congenital Disorder of Glycosylation, Type Iic |
51 |
1119 |
|
PLY117 |
Polymicrogyria, Bilateral Frontoparietal |
50 |
1120 |
c
|
CNG190 |
Congenital Disorder of Glycosylation, Type Iib |
49 |
1121 |
c
|
NRD016 |
Neurodegeneration with Brain Iron Accumulation 6 |
49 |
1122 |
c
|
CNG199 |
Congenital Disorder of Glycosylation, Type Im |
49 |
1123 |
c
|
CRD179 |
Ceroid Lipofuscinosis, Neuronal, 7 |
49 |
1124 |
c
|
CNG201 |
Congenital Disorder of Glycosylation, Type Iij |
48 |
1125 |
|
CMB026 |
Combined Oxidative Phosphorylation Deficiency 12 |
48 |
1126 |
c
|
CNG209 |
Congenital Disorder of Glycosylation, Type Iif |
48 |
1127 |
c
|
CNG383 |
Congenital Disorder of Glycosylation, Type Iik |
47 |
1128 |
c
|
PSD106 |
Pseudo-Torch Syndrome 1 |
47 |
1129 |
c
|
CNG414 |
Congenital Disorder of Glycosylation, Type Iil |
47 |
1130 |
c
|
CNG204 |
Congenital Disorder of Glycosylation, Type Iih |
47 |
1131 |
c
|
NRD009 |
Neurodegeneration with Brain Iron Accumulation 2b |
46 |
1132 |
c
|
CNG185 |
Congenital Disorder of Glycosylation, Type Iig |
46 |
1133 |
c
|
HNT010 |
Huntington Disease-Like 1 |
46 |
1134 |
P
|
SML001 |
Small Cell Carcinoma |
46 |
1135 |
c
|
CNG194 |
Congenital Disorder of Glycosylation, Type Ig |
46 |
1136 |
c
|
CNG197 |
Congenital Disorder of Glycosylation, Type Ih |
45 |
1137 |
c
|
CNG189 |
Congenital Disorder of Glycosylation, Type Ib |
45 |
1138 |
c
|
LRG001 |
Large Cell Carcinoma |
45 |
1139 |
c
|
NRD014 |
Neurodegeneration with Brain Iron Accumulation 4 |
45 |
1140 |
c
|
CNG196 |
Congenital Disorder of Glycosylation, Type Ic |
45 |
1141 |
c
|
CTS023 |
Cutis Laxa, Autosomal Recessive, Type Iib |
45 |
1142 |
c
|
CNG187 |
Congenital Disorder of Glycosylation, Type Iid |
44 |
1143 |
c
|
WRB004 |
Warburg Micro Syndrome 3 |
43 |
1144 |
c
|
WRB003 |
Warburg Micro Syndrome 2 |
43 |
1145 |
c
|
CNG198 |
Congenital Disorder of Glycosylation, Type Il |
42 |
1146 |
c
|
CNG497 |
Congenital Disorder of Glycosylation, Type Iio |
42 |
1147 |
c
|
CNG379 |
Congenital Disorder of Glycosylation, Type It |
42 |
1148 |
c
|
CNG504 |
Congenital Disorder of Glycosylation, Type Iip |
42 |
1149 |
|
IMM186 |
Immunodeficiency 27b |
42 |
1150 |
c
|
CNG192 |
Congenital Disorder of Glycosylation, Type Ik |
41 |
1151 |
c
|
LKD015 |
Leukodystrophy, Hypomyelinating, 3 |
41 |
1152 |
c
|
CNG195 |
Congenital Disorder of Glycosylation, Type Id |
41 |
1153 |
c
|
CNG496 |
Congenital Disorder of Glycosylation, Type Iiq |
40 |
1154 |
c
|
CNG200 |
Congenital Disorder of Glycosylation, Type Iq |
40 |
1155 |
c
|
WRB005 |
Warburg Micro Syndrome 4 |
39 |
1156 |
|
VLP002 |
Valproate Embryopathy |
38 |
1157 |
|
TMP019 |
Temporomandibular Joint Anomaly |
38 |
1158 |
c
|
PNT033 |
Pontocerebellar Hypoplasia, Type 10 |
37 |
1159 |
c
|
CNG386 |
Congenital Disorder of Glycosylation, Type Iu |
36 |
1160 |
c
|
CNG403 |
Congenital Disorder of Glycosylation, Type Ix |
36 |
1161 |
c
|
CNG188 |
Congenital Disorder of Glycosylation, Type if |
35 |
1162 |
|
MCR025 |
Microhydranencephaly |
35 |
1163 |
c
|
CNG416 |
Congenital Disorder of Glycosylation, Type Iy |
34 |
1164 |
|
TBS001 |
Tabes Dorsalis |
32 |
1165 |
P
|
TRC034 |
Torch Syndrome |
32 |
1166 |
c
|
PSD107 |
Pseudo-Torch Syndrome 2 |
31 |
1167 |
|
SPN368 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
29 |
1168 |
|
ICH043 |
Ichthyosis, Spastic Quadriplegia, and Mental Retardation |
29 |
1169 |
|
NRD156 |
Neurodevelopmental Disorder with Poor Growth and Skeletal Anomalies |
28 |
1170 |
c
|
CNG626 |
Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive |
27 |
1171 |
c
|
BSL011 |
Basal Cell Carcinoma, Multiple |
26 |
1172 |
c
|
CNG623 |
Congenital Disorder of Glycosylation, Type Iiw |
26 |
1173 |
|
NRD077 |
Neurodevelopmental Disorder with Cataracts, Poor Growth, and Dysmorphic Facies |
26 |
1174 |
|
GZP006 |
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development |
25 |
1175 |
|
BRC097 |
Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation |
25 |
1176 |
c
|
CNG615 |
Congenital Disorder of Glycosylation, Type Iir |
25 |
1177 |
|
NRD138 |
Neurodevelopmental Disorder with Hypotonia, Craniofacial Abnormalities, and Seizures |
24 |
1178 |
c
|
CNG627 |
Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant |
24 |
1179 |
c
|
PSD121 |
Pseudo-Torch Syndrome 3 |
24 |
1180 |
|
NRD093 |
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy |
24 |
1181 |
|
IMM188 |
Immunodeficiency, Developmental Delay, and Hypohomocysteinemia |
23 |
1182 |
|
NRD089 |
Neurodevelopmental Disorder with Brain Anomalies and with or Without Vertebral or Cardiac Anomalies |
23 |
1183 |
|
HNT017 |
Hunter-Mcalpine Craniosynostosis Syndrome |
23 |
1184 |
|
ALL014 |
Allergic Encephalomyelitis |
23 |
1185 |
c
|
CNG507 |
Congenital Disorder of Glycosylation, Type I/iix |
23 |
1186 |
|
NRD079 |
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies |
23 |
1187 |
|
INT362 |
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies |
22 |
1188 |
|
DNT053 |
Dentici-Novelli Neurodevelopmental Syndrome |
22 |
1189 |
|
NRD035 |
Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures |
22 |
1190 |
|
PRN072 |
Parenti-Mignot Neurodevelopmental Syndrome |
22 |
1191 |
c
|
NRD047 |
Neurodegeneration with Brain Iron Accumulation 7 |
22 |
1192 |
|
GLB029 |
Global Developmental Delay with Speech and Behavioral Abnormalities |
22 |
1193 |
c
|
NRD048 |
Neurodegeneration with Brain Iron Accumulation 8 |
21 |
1194 |
|
SGM010 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
21 |
1195 |
|
NRD166 |
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities |
21 |
1196 |
|
NRD162 |
Neurodevelopmental Disorder with Speech Delay and Variable Ocular Anomalies |
21 |
1197 |
|
NRD078 |
Neurodevelopmental Disorder with Cerebellar Hypoplasia and Spasticity |
21 |
1198 |
|
DVL130 |
Developmental Delay with Variable Neurologic and Brain Abnormalities |
21 |
1199 |
c
|
BSL034 |
Basal Cell Carcinoma 7 |
21 |
1200 |
|
NRD070 |
Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies |
20 |
1201 |
|
MCR370 |
Macrocephaly, Acquired, with Impaired Intellectual Development |
20 |
1202 |
|
NRD076 |
Neurodevelopmental Disorder with Ataxia, Hypotonia, and Microcephaly |
20 |
1203 |
|
INT346 |
Intellectual Developmental Disorder with Short Stature and Variable Skeletal Anomalies |
20 |
1204 |
|
NRD159 |
Neurodevelopmental Disorder with Dystonia and Seizures |
20 |
1205 |
|
DWR024 |
Dworschak-Punetha Neurodevelopmental Syndrome |
19 |
1206 |
|
NRD160 |
Neurodevelopmental Disorder with Epilepsy and Brain Atrophy |
19 |
1207 |
P
|
RBN007 |
Rubinstein Taybi Like Syndrome |
19 |
1208 |
|
NRD164 |
Neurodevelopmental Disorder with Spasticity, Seizures, and Brain Abnormalities |
19 |
1209 |
|
RTN207 |
Retinopathy, Pigmentary, and Mental Retardation |
19 |
1210 |
|
OST181 |
Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay |
18 |
1211 |
|
NRD158 |
Neurodevelopmental Disorder with Language Delay and Seizures |
18 |
1212 |
|
NRD163 |
Neurodevelopmental Disorder with Intention Tremor, Pyramidal Signs, Dyspraxia, and Ocular Anomalies |
18 |
1213 |
|
INT390 |
Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies |
18 |
1214 |
|
NRD161 |
Neurodevelopmental Disorder with Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, and Brain Atrophy |
18 |
1215 |
|
DVL138 |
Developmental Delay, Impaired Speech, and Behavioral Abnormalities, with or Without Seizures |
18 |
1216 |
|
CLB031 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
18 |
1217 |
|
ATX047 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation |
17 |
1218 |
|
NRD174 |
Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly |
17 |
1219 |
c
|
ALP115 |
Alopecia-Intellectual Disability Syndrome 3 |
16 |
1220 |
c
|
BSL026 |
Basal Cell Carcinoma 3 |
16 |
1221 |
c
|
BSL025 |
Basal Cell Carcinoma 2 |
15 |
1222 |
c
|
BSL028 |
Basal Cell Carcinoma 5 |
15 |
1223 |
|
VSC048 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
15 |
1224 |
c
|
BSL029 |
Basal Cell Carcinoma 6 |
14 |
1225 |
|
NRD179 |
Neurodevelopmental Disorder with Speech Impairment and with or Without Seizures |
14 |
1226 |
|
FBL015 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
14 |
1227 |
c
|
BSL027 |
Basal Cell Carcinoma 4 |
13 |
1228 |
|
OST114 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
13 |
1229 |
|
OBS068 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
11 |
1230 |
c
|
CNG628 |
Congenital Disorder of Glycosylation Iw |
9 |
1231 |
|
SPN387 |
Spinal Muscular Atrophy, Segmental |
8 |
1232 |
c
|
PPP001 |
Ppp2r5d-Related Intellectual Disability |
8 |
1233 |
|
CNG533 |
Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome |
7 |
1234 |
P
|
DSR041 |
Disorder of Multiple Glycosylation |
6 |
1235 |
|
GRW022 |
Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome |
6 |
1236 |
|
NRX005 |
Nrxn1-Related Severe Neurodevelopmental Disorder-Motor Stereotypies-Chronic Constipation-Sleep-Wake Cycle Disturbance |
4 |
1237 |
|
FBX004 |
Fbxw7 Neurodevelopmental Syndrome |
3 |
1238 |
P
|
ENC018 |
Encephalopathy |
64 |
1239 |
c
|
CRD186 |
Ceroid Lipofuscinosis, Neuronal, 3 |
63 |
1240 |
P
|
CTR002 |
Cataract |
60 |
1241 |
c
|
HRD202 |
Hereditary Lymphedema I |
60 |
1242 |
|
BRN045 |
Brunner Syndrome |
59 |
1243 |
c
|
CRD184 |
Ceroid Lipofuscinosis, Neuronal, 5 |
59 |
1244 |
|
LG4001 |
Lig4 Syndrome |
57 |
1245 |
|
MCR013 |
Microphthalmia |
57 |
1246 |
c
|
CRD183 |
Ceroid Lipofuscinosis, Neuronal, 2 |
56 |
1247 |
|
SLC006 |
Silicosis |
55 |
1248 |
c
|
CRD259 |
Ceroid Lipofuscinosis, Neuronal, 6a |
55 |
1249 |
|
MYC080 |
Myoclonic Epilepsy of Unverricht and Lundborg |
55 |
1250 |
P
|
BND018 |
Band Heterotopia |
55 |
1251 |
|
RSP019 |
Respiratory Distress Syndrome in Premature Infants |
54 |
1252 |
|
CLL036 |
Culler-Jones Syndrome |
53 |
1253 |
P
|
MRT010 |
Martsolf Syndrome 1 |
53 |
1254 |
|
VLC001 |
Velocardiofacial Syndrome |
52 |
1255 |
c
|
CRD182 |
Ceroid Lipofuscinosis, Neuronal, 10 |
52 |
1256 |
P
|
RST001 |
Restless Legs Syndrome |
51 |
1257 |
|
TMT002 |
Temtamy Preaxial Brachydactyly Syndrome |
51 |
1258 |
c
|
PRK085 |
Parkinson Disease 1, Autosomal Dominant |
51 |
1259 |
|
HMC001 |
Homocarnosinosis |
49 |
1260 |
|
NNN022 |
Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia |
49 |
1261 |
|
VTR010 |
Vitreoretinochoroidopathy |
48 |
1262 |
|
NRS003 |
Neurosyphilis |
48 |
1263 |
|
BSL009 |
Basal Ganglia Calcification |
47 |
1264 |
c
|
CTR103 |
Cataract 4, Multiple Types |
47 |
1265 |
|
MLT084 |
Multicystic Dysplastic Kidney |
47 |
1266 |
c
|
CTR098 |
Cataract 1, Multiple Types |
47 |
1267 |
c
|
PNT018 |
Pontocerebellar Hypoplasia, Type 1b |
47 |
1268 |
c
|
CRD166 |
Ceroid Lipofuscinosis, Neuronal, 11 |
47 |
1269 |
|
CDS002 |
Codas Syndrome |
47 |
1270 |
|
NNS045 |
Non-Specific Syndromic Intellectual Disability |
46 |
1271 |
c
|
MYP021 |
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 |
46 |
1272 |
c
|
CTR182 |
Cataract 23, Multiple Types |
44 |
1273 |
c
|
CTR096 |
Cataract 6, Multiple Types |
44 |
1274 |
|
IMM180 |
Immunodeficiency 28 |
44 |
1275 |
|
CKS001 |
Ck Syndrome |
44 |
1276 |
|
BSC005 |
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
44 |
1277 |
c
|
CTR130 |
Cataract 9, Multiple Types |
43 |
1278 |
c
|
CRD258 |
Ceroid Lipofuscinosis, Neuronal, 6b |
43 |
1279 |
c
|
CRD239 |
Ceroid Lipofuscinosis, Neuronal, 13 |
43 |
1280 |
c
|
ENC057 |
Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 |
43 |
1281 |
c
|
CRD257 |
Ceroid Lipofuscinosis, Neuronal, 4 |
42 |
1282 |
|
WTT002 |
Witteveen-Kolk Syndrome |
42 |
1283 |
c
|
MYP022 |
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 |
41 |
1284 |
|
SPN360 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
41 |
1285 |
|
NRN008 |
Neuronal Intranuclear Inclusion Disease |
41 |
1286 |
|
CLF050 |
Cleft Palate, Cardiac Defects, and Mental Retardation |
40 |
1287 |
P
|
PRM327 |
Primary Lymphedema |
40 |
1288 |
c
|
CTR118 |
Cataract 14, Multiple Types |
40 |
1289 |
|
JWD001 |
Jawad Syndrome |
40 |
1290 |
c
|
CTR125 |
Cataract 7 |
39 |
1291 |
c
|
CTR132 |
Cataract 3, Multiple Types |
39 |
1292 |
c
|
CTR115 |
Cataract 16, Multiple Types |
39 |
1293 |
c
|
CTR170 |
Cataract 30, Multiple Types |
39 |
1294 |
c
|
CTR174 |
Cataract 40 |
38 |
1295 |
c
|
HRD206 |
Hereditary Lymphedema Ii |
38 |
1296 |
|
AGN018 |
Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome |
38 |
1297 |
c
|
CTR113 |
Cataract 11, Multiple Types |
38 |
1298 |
c
|
HRD007 |
Hereditary Lymphedema |
38 |
1299 |
c
|
CTR145 |
Cataract 44 |
37 |
1300 |
|
NRD004 |
Neurodegeneration Due to Cerebral Folate Transport Deficiency |
36 |
1301 |
c
|
CTR129 |
Cataract 31, Multiple Types |
36 |
1302 |
c
|
CTR181 |
Cataract 18 |
35 |
1303 |
|
ART173 |
Arthrogryposis, Impaired Intellectual Development, and Seizures |
35 |
1304 |
c
|
CTR122 |
Cataract 5, Multiple Types |
34 |
1305 |
c
|
CTR183 |
Cataract 38 |
34 |
1306 |
c
|
RST012 |
Restless Legs Syndrome 1 |
34 |
1307 |
c
|
CTR095 |
Cataract 8, Multiple Types |
34 |
1308 |
c
|
AMY079 |
Amyotrophic Lateral Sclerosis Type 15 |
33 |
1309 |
c
|
CNG439 |
Congenital Lymphedema |
33 |
1310 |
|
CMB078 |
Combined Oxidative Phosphorylation Deficiency 32 |
33 |
1311 |
|
KNS007 |
Kinsship Syndrome |
33 |
1312 |
c
|
CTR102 |
Cataract 2, Multiple Types |
33 |
1313 |
|
SKR001 |
Skraban-Deardorff Syndrome |
33 |
1314 |
c
|
CTR131 |
Cataract 17, Multiple Types |
32 |
1315 |
c
|
CTR187 |
Cataract 48 |
32 |
1316 |
c
|
CTR111 |
Cataract 36 |
32 |
1317 |
c
|
CTR185 |
Cataract 30 |
32 |
1318 |
|
LSS040 |
Lissencephaly 9 with Complex Brainstem Malformation |
32 |
1319 |
|
MCR355 |
Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy |
31 |
1320 |
c
|
CTR124 |
Cataract 10, Multiple Types |
31 |
1321 |
c
|
PNT059 |
Pontocerebellar Hypoplasia, Type 16 |
31 |
1322 |
c
|
NPH115 |
Nephrotic Syndrome, Type 23 |
31 |
1323 |
|
HRT037 |
Heart and Brain Malformation Syndrome |
31 |
1324 |
c
|
CTR175 |
Cataract 24 |
30 |
1325 |
|
SPS190 |
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly |
30 |
1326 |
c
|
CTR119 |
Cataract 32, Multiple Types |
30 |
1327 |
P
|
MYP108 |
Myopathy, Lactic Acidosis, and Sideroblastic Anemia |
29 |
1328 |
c
|
CTR141 |
Cataract 21, Multiple Types |
29 |
1329 |
c
|
ENC049 |
Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 |
29 |
1330 |
c
|
CTR180 |
Cataract 22, Multiple Types |
27 |
1331 |
c
|
SPN451 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
27 |
1332 |
|
SPN424 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits |
27 |
1333 |
c
|
CTR116 |
Cataract 15, Multiple Types |
26 |
1334 |
c
|
RST020 |
Restless Legs Syndrome 6 |
26 |
1335 |
c
|
NPH096 |
Nephrotic Syndrome, Type 12 |
26 |
1336 |
c
|
CTR105 |
Cataract 12, Multiple Types |
26 |
1337 |
|
CHR457 |
Chromosome 17p13.1 Deletion Syndrome |
26 |
1338 |
|
SHK002 |
Shukla-Vernon Syndrome |
26 |
1339 |
c
|
CTR166 |
Cataract 33, Multiple Types |
26 |
1340 |
c
|
CTR121 |
Cataract 25 |
26 |
1341 |
c
|
CTR097 |
Cataract 34, Multiple Types |
26 |
1342 |
|
CHR722 |
Chromosome Xq25 Duplication Syndrome |
25 |
1343 |
|
WLM019 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome |
24 |
1344 |
c
|
CTR169 |
Cataract 29 |
24 |
1345 |
c
|
HRD204 |
Hereditary Lymphedema Ia |
24 |
1346 |
c
|
CTR165 |
Cataract 19, Multiple Types |
24 |
1347 |
c
|
CTR162 |
Cataract 47 |
23 |
1348 |
c
|
CTR136 |
Cataract 41 |
23 |
1349 |
c
|
CTR157 |
Cataract 28 |
23 |
1350 |
P
|
HYP893 |
Hypomagnesemia, Seizures, and Impaired Intellectual Development 2 |
23 |
1351 |
|
ZCH002 |
Zechi-Ceide Syndrome |
23 |
1352 |
|
BSL042 |
Basilar Impression, Primary |
23 |
1353 |
c
|
CTR158 |
Cataract 37 |
23 |
1354 |
c
|
HYP892 |
Hypomagnesemia, Seizures, and Impaired Intellectual Development 1 |
23 |
1355 |
c
|
MYP107 |
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 |
23 |
1356 |
c
|
SPN452 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
23 |
1357 |
c
|
HRD100 |
Hereditary Lymphedema Ic |
23 |
1358 |
c
|
NPH093 |
Nephrotic Syndrome, Type 13 |
22 |
1359 |
c
|
MRT011 |
Martsolf Syndrome 2 |
22 |
1360 |
c
|
CTR184 |
Cataract 39, Multiple Types |
22 |
1361 |
c
|
CTR106 |
Cataract 20, Multiple Types |
22 |
1362 |
|
DRM023 |
Dermoodontodysplasia |
22 |
1363 |
c
|
CTR110 |
Cataract 26, Multiple Types |
22 |
1364 |
c
|
CTR160 |
Cataract 45 |
21 |
1365 |
c
|
PNT058 |
Pontocerebellar Hypoplasia, Type 1f |
21 |
1366 |
c
|
CTR144 |
Cataract 43 |
21 |
1367 |
c
|
CTR178 |
Cataract 27 |
21 |
1368 |
c
|
CTR128 |
Cataract 33 |
20 |
1369 |
c
|
CTR159 |
Cataract 35 |
20 |
1370 |
c
|
CTR139 |
Cataract 42 |
20 |
1371 |
|
FLL034 |
Fallot Complex with Severe Mental and Growth Retardation |
20 |
1372 |
|
THR109 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
20 |
1373 |
|
HYP686 |
Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies |
18 |
1374 |
c
|
CTR190 |
Cataract 49 |
18 |
1375 |
|
NRD055 |
Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum |
18 |
1376 |
|
LKM069 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
18 |
1377 |
|
INT286 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
18 |
1378 |
|
CBT003 |
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies |
18 |
1379 |
|
ALP090 |
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism |
18 |
1380 |
|
ICH080 |
Ichthyosis Alopecia Eclabion Ectropion Intellectual Disability |
18 |
1381 |
c
|
RRP002 |
Rare Pervasive Developmental Disorder |
17 |
1382 |
|
XLN197 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
17 |
1383 |
|
MNT315 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism |
16 |
1384 |
|
SPS218 |
Spastic Diplegia and Mental Retardation |
15 |
1385 |
|
CTS046 |
Cutis Verticis Gyrata and Mental Retardation |
15 |
1386 |
|
MDF004 |
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia |
15 |
1387 |
|
CRN103 |
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig |
14 |
1388 |
c
|
RST016 |
Restless Legs Syndrome 7 |
14 |
1389 |
|
SPS193 |
Spastic Paraplegia, Epilepsy, and Mental Retardation |
14 |
1390 |
|
CRM012 |
Cree Mental Retardation Syndrome |
14 |
1391 |
c
|
RST014 |
Restless Legs Syndrome 3 |
14 |
1392 |
c
|
RST013 |
Restless Legs Syndrome 2 |
13 |
1393 |
|
HRS040 |
Hirsutism, Skeletal Dysplasia, and Mental Retardation |
13 |
1394 |
c
|
HRD203 |
Hereditary Lymphedema Id |
13 |
1395 |
c
|
GJC002 |
Gjc2-Related Late-Onset Primary Lymphedema |
12 |
1396 |
|
MNT030 |
Mental Retardation Syndrome, Belgian Type |
12 |
1397 |
|
MYT024 |
Myotonia with Skeletal Abnormalities and Mental Retardation |
12 |
1398 |
c
|
RST015 |
Restless Legs Syndrome 4 |
12 |
1399 |
|
CHR580 |
Choroid Plexus Calcification and Mental Retardation |
12 |
1400 |
|
CTR179 |
Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy |
12 |
1401 |
c
|
STX006 |
Stxbp1-Related Encephalopathy |
11 |
1402 |
|
MNT255 |
Mental Retardation and Psoriasis |
11 |
1403 |
|
FCL076 |
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation |
11 |
1404 |
c
|
RST021 |
Restless Legs Syndrome 5 |
11 |
1405 |
|
MND028 |
Mandibulofacial Dysostosis with Mental Retardation |
11 |
1406 |
|
SCR041 |
Sucrosuria, Hiatus Hernia and Mental Retardation |
11 |
1407 |
|
FNC068 |
Functional Neurologic Disorder |
10 |
1408 |
c
|
RST019 |
Restless Legs Syndrome 8 |
10 |
1409 |
|
MRF017 |
Marfanoid Mental Retardation Syndrome, Autosomal |
10 |
1410 |
|
TCP003 |
Tecpr2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability |
10 |
1411 |
|
VTL010 |
Vitiligo, Progressive, with Mental Retardation and Urethral Duplication |
10 |
1412 |
c
|
DDX004 |
Ddx3x-Related Neurodevelopmental Disorder |
10 |
1413 |
|
THR039 |
Thrombocytopenia Robin Sequence |
10 |
1414 |
|
MNT299 |
Mental and Growth Retardation with Amblyopia |
10 |
1415 |
|
C9R003 |
C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis |
10 |
1416 |
c
|
ENC068 |
Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect |
9 |
1417 |
|
SPS217 |
Spastic Paraplegia, Optic Atrophy, and Dementia |
9 |
1418 |
|
CHD011 |
Chd8-Related Neurodevelopmental Disorder with Overgrowth |
9 |
1419 |
|
EBF001 |
Ebf3 Neurodevelopmental Disorder |
9 |
1420 |
|
STD002 |
Setd2 Neurodevelopmental Disorders |
9 |
1421 |
|
CHD008 |
Chd4 Neurodevelopmental Disorder |
9 |
1422 |
|
MNT250 |
Mental Retardation with Spastic Paraplegia |
8 |
1423 |
|
HRD179 |
Hair Defect-Photosensitivity-Intellectual Disability Syndrome |
7 |
1424 |
|
SPN453 |
Spondyloepiphyseal Dysplasia Tarda with Intellectual Disability |
7 |
1425 |
c
|
CLC065 |
Clcn4-Related Neurodevelopmental Disorder |
7 |
1426 |
|
CTS013 |
Cutis Verticis Gyrata Mental Deficiency |
6 |
1427 |
c
|
HRD205 |
Hereditary Lymphedema Ib |
6 |
1428 |
c
|
CLS057 |
Celsr1-Related Late-Onset Primary Lymphedema |
6 |
1429 |
|
BGT001 |
Bagatelle Cassidy Syndrome |
6 |
1430 |
|
SHR110 |
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting |
6 |
1431 |
|
MCR344 |
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation |
6 |
1432 |
c
|
CTR008 |
Cataract Congenital Autosomal Dominant |
5 |
1433 |
c
|
ERL064 |
Early-Onset Obesity-Hyperphagia-Severe Developmental Delay Syndrome |
5 |
1434 |
|
ANM047 |
Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/mental Retardation Syndrome |
5 |
1435 |
|
RRD017 |
Rare Developmental Defect with Connective Tissue Involvement |
5 |
1436 |
|
CNT053 |
Cantu Sanchez-Corona Fragoso Syndrome |
5 |
1437 |
|
CCN014 |
Ccnk-Related Neurodevelopmental Disorder-Severe Intellectual Disability-Facial Dysmorphism Syndrome |
4 |
1438 |
|
DVL025 |
Developmental Anomaly of Metabolic Origin |
4 |
1439 |
|
DVL133 |
Developmental Delay-Immunodeficiency-Leukoencephalopathy-Hypohomocysteinemia Syndrome |
4 |
1440 |
|
SLC043 |
Slc12a2-Related Autosomal Recessive Neonatal-Developmental Delay-Intellectual Disability-Feeding Difficulty-Sensorineural Deafness Syndrome |
4 |
1441 |
c
|
FML049 |
Familial Band Heterotopia |
4 |
1442 |
|
STR110 |
Structural Developmental Eye Defect of Genetic Origin |
3 |
1443 |
|
RRC034 |
Rare Cerebrovascular Dementia |
3 |
1444 |
|
MTB017 |
Metabolic Disease with Dementia |
3 |
1445 |
|
GNT109 |
Genetic Frontotemporal Degeneration with Dementia |
3 |
1446 |
|
GNT110 |
Genetic Neurodegenerative Disease with Dementia |
3 |
1447 |
|
NDM001 |
Nedamss Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures |
1 |
1448 |
P
|
HRT032 |
Heart Disease |
80 |
1449 |
P
|
RTT002 |
Rett Syndrome |
78 |
1450 |
P
|
NNN008 |
Noonan Syndrome 1 |
76 |
1451 |
P
|
ATS364 |
Autism |
74 |
1452 |
P
|
LVR013 |
Liver Disease |
71 |
1453 |
c
|
ATS007 |
Autism Spectrum Disorder |
70 |
1454 |
P
|
SLP006 |
Sleep Apnea |
69 |
1455 |
|
DMN031 |
Dementia, Lewy Body |
68 |
1456 |
|
ORT004 |
Orthostatic Intolerance |
64 |
1457 |
|
MDD011 |
Mood Disorder |
61 |
1458 |
|
ANR007 |
Anorexia Nervosa |
61 |
1459 |
|
CHR066 |
Chronic Fatigue Syndrome |
58 |
1460 |
P
|
BPL003 |
Bipolar Disorder |
57 |
1461 |
|
NRT001 |
Neurotic Disorder |
57 |
1462 |
c
|
ACT134 |
Acute Liver Failure |
57 |
1463 |
P
|
LRS001 |
Larsen Syndrome |
56 |
1464 |
|
DYS009 |
Dysthymic Disorder |
54 |
1465 |
|
SCH003 |
Schizophreniform Disorder |
54 |
1466 |
|
END040 |
Endogenous Depression |
53 |
1467 |
c
|
CRN278 |
Craniosynostosis 1 |
53 |
1468 |
|
OPP004 |
Oppositional Defiant Disorder |
53 |
1469 |
c
|
PNT034 |
Pontocerebellar Hypoplasia, Type 2e |
53 |
1470 |
|
SPC010 |
Speech and Communication Disorders |
53 |
1471 |
|
BRD004 |
Borderline Personality Disorder |
52 |
1472 |
P
|
TBH003 |
Teebi Hypertelorism Syndrome 1 |
52 |
1473 |
P
|
VND002 |
Van Der Woude Syndrome |
52 |
1474 |
c
|
NNN010 |
Noonan Syndrome 3 |
52 |
1475 |
|
BRX001 |
Bruxism |
51 |
1476 |
|
SCH012 |
Schizoaffective Disorder |
50 |
1477 |
|
PST021 |
Postpartum Depression |
50 |
1478 |
|
CND002 |
Conduct Disorder |
49 |
1479 |
|
NNT033 |
Neonatal Hypoxic and Ischemic Brain Injury |
48 |
1480 |
|
SCL003 |
Social Phobia |
48 |
1481 |
c
|
BPL002 |
Bipolar I Disorder |
47 |
1482 |
c
|
CRN134 |
Cornelia De Lange Syndrome 2 |
47 |
1483 |
|
CCN001 |
Cocaine Dependence |
47 |
1484 |
P
|
MGL030 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
47 |
1485 |
|
RMS001 |
Rem Sleep Behavior Disorder |
46 |
1486 |
|
PRN009 |
Paranoid Schizophrenia |
46 |
1487 |
|
IMP006 |
Impulse Control Disorder |
46 |
1488 |
|
ANT011 |
Antisocial Personality Disorder |
46 |
1489 |
|
BRN005 |
Brain Glioblastoma Multiforme |
46 |
1490 |
|
AVD001 |
Avoidant Personality Disorder |
45 |
1491 |
c
|
TRC100 |
Trichothiodystrophy 3, Photosensitive |
45 |
1492 |
c
|
INF145 |
Infantile Liver Failure Syndrome 1 |
45 |
1493 |
P
|
CRN321 |
Cornelia De Lange Syndrome 4 with or Without Midline Brain Defects |
45 |
1494 |
|
LRN003 |
Learning Disability |
45 |
1495 |
|
RNP003 |
Renpenning Syndrome 1 |
45 |
1496 |
|
DLS001 |
Delusional Disorder |
45 |
1497 |
|
RDN001 |
Reading Disorder |
44 |
1498 |
|
AGR002 |
Agoraphobia |
44 |
1499 |
c
|
NNN009 |
Noonan Syndrome 2 |
44 |
1500 |
|
DSS010 |
Dissociative Disorder |
43 |
1501 |
P
|
MJR007 |
Major Affective Disorder 1 |
43 |
1502 |
c
|
CRN320 |
Cornelia De Lange Syndrome 3 with or Without Midline Brain Defects |
43 |
1503 |
|
PHB001 |
Phobic Disorder |
43 |
1504 |
c
|
SPN325 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
42 |
1505 |
|
OBS003 |
Obsessive-Compulsive Personality Disorder |
42 |
1506 |
c
|
FTL006 |
Fetal Alcohol Spectrum Disorder |
42 |
1507 |
c
|
NNN012 |
Noonan Syndrome 5 |
42 |
1508 |
c
|
MCR255 |
Microcephaly 9, Primary, Autosomal Recessive |
42 |
1509 |
c
|
CNT015 |
Central Sleep Apnea |
41 |
1510 |
c
|
CNG404 |
Congenital Heart Defects, Multiple Types, 4 |
41 |
1511 |
|
ALP112 |
Alpha-Aminoadipic and Alpha-Ketoadipic Aciduria |
41 |
1512 |
|
INT025 |
Intermittent Explosive Disorder |
41 |
1513 |
|
CYC005 |
Cyclothymic Disorder |
41 |
1514 |
c
|
NNN021 |
Noonan Syndrome 8 |
40 |
1515 |
P
|
DYS005 |
Dyslexia |
40 |
1516 |
c
|
CRN209 |
Cornelia De Lange Syndrome 5 |
40 |
1517 |
|
SPR012 |
Separation Anxiety Disorder |
40 |
1518 |
c
|
NNN011 |
Noonan Syndrome 4 |
40 |
1519 |
|
DPR002 |
Depersonalization Disorder |
40 |
1520 |
c
|
CNG205 |
Congenital Disorder of Glycosylation, Type Ij |
40 |
1521 |
c
|
LVR030 |
Liver Failure, Infantile, Transient |
40 |
1522 |
|
NPH039 |
Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities |
40 |
1523 |
|
IDM001 |
Ideomotor Apraxia |
40 |
1524 |
|
BDY001 |
Body Dysmorphic Disorder |
40 |
1525 |
c
|
CFF011 |
Coffin-Siris Syndrome 6 |
39 |
1526 |
|
SCH011 |
Schizotypal Personality Disorder |
39 |
1527 |
c
|
VND007 |
Van Der Woude Syndrome 1 |
39 |
1528 |
|
RTN231 |
Retinal Dystrophy with Leukodystrophy |
38 |
1529 |
c
|
NNN020 |
Noonan Syndrome 7 |
38 |
1530 |
|
CLB009 |
Coloboma of Iris |
38 |
1531 |
|
DRG001 |
Drug Psychosis |
38 |
1532 |
|
CNR033 |
Cone-Rod Synaptic Disorder, Congenital Nonprogressive |
38 |
1533 |
P
|
HYP263 |
Hypersomnia |
37 |
1534 |
|
ANT019 |
Anterograde Amnesia |
37 |
1535 |
|
SYN089 |
Syndromic X-Linked Intellectual Disability Snyder Type |
37 |
1536 |
|
SPN415 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
37 |
1537 |
c
|
NNN025 |
Noonan Syndrome 10 |
36 |
1538 |
|
VSL003 |
Visual Agnosia |
36 |
1539 |
c
|
NGH029 |
Night Blindness, Congenital Stationary, Type 1e |
36 |
1540 |
|
RVR002 |
Reversible Cerebral Vasoconstriction Syndrome |
36 |
1541 |
|
DYS004 |
Dyscalculia |
36 |
1542 |
|
IMM056 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
36 |
1543 |
c
|
NNN013 |
Noonan Syndrome 6 |
36 |
1544 |
c
|
RTT008 |
Rett Syndrome, Congenital Variant |
34 |
1545 |
|
ALC036 |
Alcohol-Related Birth Defects |
34 |
1546 |
c
|
MCR356 |
Microcephaly 19, Primary, Autosomal Recessive |
34 |
1547 |
P
|
SHR126 |
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2 |
34 |
1548 |
c
|
NNN024 |
Noonan Syndrome 9 |
33 |
1549 |
c
|
NNN034 |
Noonan Syndrome 12 |
33 |
1550 |
|
DYS003 |
Dysgraphia |
33 |
1551 |
c
|
RNG008 |
Ring Chromosome 13 |
33 |
1552 |
c
|
SCH075 |
Schizophrenia 19 |
32 |
1553 |
c
|
CRN281 |
Craniosynostosis 7 |
32 |
1554 |
|
HYP530 |
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity |
32 |
1555 |
c
|
RCR002 |
Recurrent Hypersomnia |
32 |
1556 |
c
|
SCH051 |
Schizophrenia 4 |
32 |
1557 |
|
CCN009 |
Cocaine Intoxication |
32 |
1558 |
c
|
INF194 |
Infantile Liver Failure Syndrome |
31 |
1559 |
c
|
NNN036 |
Noonan Syndrome 13 |
31 |
1560 |
P
|
ART169 |
Arthrogryposis Multiplex Congenita 6 |
31 |
1561 |
|
HYP711 |
Hypotonia, Ataxia, and Delayed Development Syndrome |
31 |
1562 |
c
|
MLT010 |
Multiple Personality Disorder |
31 |
1563 |
|
CRN266 |
Craniofacial Dyssynostosis with Short Stature |
31 |
1564 |
|
ATY012 |
Atypical Mycobacteriosis, Familial |
31 |
1565 |
c
|
INF138 |
Infantile Liver Failure Syndrome 2 |
31 |
1566 |
|
CRT007 |
Cortical Deafness |
31 |
1567 |
c
|
DNC007 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 |
30 |
1568 |
c
|
NNN029 |
Noonan Syndrome 11 |
30 |
1569 |
|
ANH003 |
Anhaptoglobinemia |
30 |
1570 |
c
|
LRS002 |
Larsen-Like Syndrome |
30 |
1571 |
|
CMP025 |
Camptodactyly, Tall Stature, and Hearing Loss Syndrome |
29 |
1572 |
|
SPC003 |
Specific Developmental Disorder |
29 |
1573 |
c
|
CNG520 |
Congenital Heart Defects, Multiple Types, 6 |
29 |
1574 |
c
|
ADV003 |
Advanced Sleep Phase Syndrome, Familial, 1 |
29 |
1575 |
|
MNT308 |
Mental Retardation with Optic Atrophy, Deafness, and Seizures |
29 |
1576 |
c
|
SCH080 |
Schizophrenia 3 |
29 |
1577 |
|
ANK013 |
Ankyloblepharon Filiforme Adnatum and Cleft Palate |
29 |
1578 |
|
CHR707 |
Chromosome 13q33-Q34 Deletion Syndrome |
28 |
1579 |
|
EXH001 |
Exhibitionism |
28 |
1580 |
|
CHR190 |
Chromosome 12p Duplication |
28 |
1581 |
|
PRM183 |
Primary Aldosteronism, Seizures, and Neurologic Abnormalities |
28 |
1582 |
c
|
SCH064 |
Schizophrenia 10 |
28 |
1583 |
c
|
SYN064 |
Syndromic X-Linked Intellectual Disability |
28 |
1584 |
c
|
CNG617 |
Congenital Disorder of Glycosylation, Type Iit |
28 |
1585 |
|
CNC001 |
Cancerophobia |
28 |
1586 |
|
OST168 |
Osteosclerotic Metaphyseal Dysplasia |
28 |
1587 |
|
RTN174 |
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome |
28 |
1588 |
c
|
SCH061 |
Schizophrenia 16 |
28 |
1589 |
c
|
MGL028 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
28 |
1590 |
c
|
DYS121 |
Dyslexia 1 |
28 |
1591 |
|
NRD059 |
Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy |
28 |
1592 |
c
|
CRN221 |
Craniosynostosis 4 |
28 |
1593 |
|
PLY183 |
Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome |
28 |
1594 |
c
|
SCH053 |
Schizophrenia 13 |
27 |
1595 |
c
|
ART167 |
Arthrogryposis Multiplex Congenita 5 |
27 |
1596 |
|
CMB002 |
Combat Disorder |
27 |
1597 |
c
|
KHL004 |
Kohlschutter-Tonz Syndrome-Like |
27 |
1598 |
c
|
CNG511 |
Congenital Heart Defects, Multiple Types, 2 |
26 |
1599 |
c
|
ADV007 |
Advanced Sleep Phase Syndrome, Familial, 2 |
26 |
1600 |
|
NRC003 |
Narcissistic Personality Disorder |
26 |
1601 |
|
PRN010 |
Paranoid Personality Disorder |
26 |
1602 |
c
|
RNG013 |
Ring Chromosome 18 |
26 |
1603 |
|
ELC001 |
Elective Mutism |
26 |
1604 |
c
|
SCH084 |
Schizophrenia 8 |
26 |
1605 |
|
NZN001 |
Nizon-Isidor Syndrome |
26 |
1606 |
c
|
CNG622 |
Congenital Disorder of Glycosylation, Type 2v |
26 |
1607 |
|
HST001 |
Histrionic Personality Disorder |
26 |
1608 |
|
SCH004 |
Schizoid Personality Disorder |
26 |
1609 |
c
|
CRN256 |
Craniosynostosis 6 |
25 |
1610 |
|
FCL046 |
Focal Facial Dermal Dysplasia 4 |
25 |
1611 |
|
DPN001 |
Dependent Personality Disorder |
25 |
1612 |
c
|
LVR033 |
Liver Disease, Severe Congenital |
25 |
1613 |
c
|
CNG521 |
Congenital Heart Defects, Multiple Types, 5 |
25 |
1614 |
c
|
NPH105 |
Nephrotic Syndrome, Type 17 |
25 |
1615 |
c
|
ATS370 |
Autism 3 |
25 |
1616 |
|
INT339 |
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature |
25 |
1617 |
P
|
CRD249 |
Cardioacrofacial Dysplasia 2 |
25 |
1618 |
|
RCH011 |
Rauch-Steindl Syndrome |
25 |
1619 |
c
|
INF190 |
Infantile Liver Failure Syndrome 3 |
25 |
1620 |
c
|
SHR125 |
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 1 |
25 |
1621 |
|
FND007 |
Faundes-Banka Syndrome |
25 |
1622 |
|
MTC230 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
25 |
1623 |
|
CHR416 |
Chromosome 17q Deletion |
25 |
1624 |
c
|
DYS120 |
Dyslexia 2 |
25 |
1625 |
|
CRB227 |
Cerebellar Ataxia, Brain Abnormalities, and Cardiac Conduction Defects |
25 |
1626 |
|
PRT001 |
Partial Fetal Alcohol Syndrome |
24 |
1627 |
c
|
CRT089 |
Cortical Dysplasia, Complex, with Other Brain Malformations 10 |
24 |
1628 |
c
|
INT478 |
Intellectual Developmental Disorder, Autosomal Recessive 57 |
24 |
1629 |
c
|
NNN038 |
Noonan Syndrome 14 |
24 |
1630 |
c
|
TBH004 |
Teebi Hypertelorism Syndrome 2 |
24 |
1631 |
c
|
MGL029 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
24 |
1632 |
c
|
SCH082 |
Schizophrenia 5 |
24 |
1633 |
|
BRT061 |
Buratti-Harel Syndrome |
24 |
1634 |
c
|
CNG616 |
Congenital Heart Defects, Multiple Types, 7 |
24 |
1635 |
|
CMB115 |
Combined Oxidative Phosphorylation Deficiency 55 |
24 |
1636 |
c
|
EPL254 |
Epilepsy, Progressive Myoclonic, 11 |
23 |
1637 |
c
|
LKD035 |
Leukodystrophy, Hypomyelinating, 22 |
23 |
1638 |
|
INT584 |
Intellectual Developmental Disorder with Speech Delay and Dysmorphic Facies |
23 |
1639 |
c
|
DYS219 |
Dystonia 33 |
23 |
1640 |
|
EXP001 |
Expressive Language Disorder |
23 |
1641 |
|
KYB001 |
Kaya-Barakat-Masson Syndrome |
23 |
1642 |
c
|
BMN004 |
Biemond Syndrome Ii |
23 |
1643 |
|
OST179 |
Osteootohepatoenteric Syndrome |
23 |
1644 |
c
|
SYN082 |
Syndromic X-Linked Intellectual Disability 14 |
23 |
1645 |
c
|
RNG021 |
Ring Chromosome 5 |
22 |
1646 |
c
|
ATS376 |
Autism 15 |
22 |
1647 |
c
|
ATS474 |
Autism 20 |
22 |
1648 |
c
|
ATS369 |
Autism 8 |
22 |
1649 |
|
LGH020 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
22 |
1650 |
c
|
TRC127 |
Trichothiodystrophy 8, Nonphotosensitive |
22 |
1651 |
|
NRD154 |
Neurodegeneration, Childhood-Onset, with Progressive Microcephaly |
22 |
1652 |
c
|
INT452 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
22 |
1653 |
|
BRN112 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
22 |
1654 |
|
SHR123 |
Short Stature and Microcephaly with Genital Anomalies |
22 |
1655 |
|
TRK001 |
Triokinase and Fmn Cyclase Deficiency Syndrome |
21 |
1656 |
c
|
ATS378 |
Autism 17 |
20 |
1657 |
|
MTC224 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
20 |
1658 |
c
|
RNG014 |
Ring Chromosome 19 |
19 |
1659 |
c
|
INT512 |
Intellectual Developmental Disorder, Autosomal Recessive 4 |
19 |
1660 |
|
MTC228 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
18 |
1661 |
|
PRC021 |
Parc Syndrome |
18 |
1662 |
c
|
CRD248 |
Cardioacrofacial Dysplasia 1 |
18 |
1663 |
|
CLB008 |
Coloboma of Eye Lens |
18 |
1664 |
P
|
HYP284 |
Hypospadias 1, X-Linked |
18 |
1665 |
c
|
CNG385 |
Congenital Heart Defects, Multiple Types, 3 |
18 |
1666 |
P
|
BMN001 |
Biemond Syndrome |
18 |
1667 |
c
|
ATS371 |
Autism 6 |
18 |
1668 |
c
|
NNS073 |
Non-Syndromic X-Linked Intellectual Disability 2 |
18 |
1669 |
|
9P1001 |
9p13 Microdeletion Syndrome |
17 |
1670 |
|
MTC221 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
17 |
1671 |
|
HYP687 |
Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy |
17 |
1672 |
|
VRB001 |
Verbal Auditory Agnosia |
17 |
1673 |
c
|
DYS125 |
Dyslexia 8 |
17 |
1674 |
c
|
NNS086 |
Non-Syndromic X-Linked Intellectual Disability 91 |
16 |
1675 |
c
|
ATS170 |
Autism 19 |
16 |
1676 |
|
PHN002 |
Phonagnosia |
16 |
1677 |
c
|
HYP270 |
Hypospadias 2, X-Linked |
16 |
1678 |
c
|
ATS372 |
Autism 7 |
16 |
1679 |
|
APP006 |
Apperceptive Agnosia |
16 |
1680 |
|
CHR239 |
Chromosome 2q Deletion |
16 |
1681 |
|
KSZ002 |
Kosztolanyi Syndrome |
15 |
1682 |
c
|
ATS374 |
Autism 12 |
15 |
1683 |
|
LKD038 |
Leukodystrophy, Childhood-Onset, Remitting |
15 |
1684 |
c
|
ATS171 |
Autism 9 |
15 |
1685 |
c
|
ATS172 |
Autism 10 |
15 |
1686 |
c
|
ATS373 |
Autism 11 |
14 |
1687 |
c
|
ATS375 |
Autism 13 |
14 |
1688 |
|
MDR001 |
Medeira-Dennis-Donnai Syndrome |
14 |
1689 |
c
|
INT511 |
Intellectual Developmental Disorder, Autosomal Recessive 11 |
14 |
1690 |
c
|
ART171 |
Arthrogryposis Multiplex Congenita-3 |
14 |
1691 |
c
|
NNS085 |
Non-Syndromic X-Linked Intellectual Disability 90 |
13 |
1692 |
c
|
NNS076 |
Non-Syndromic X-Linked Intellectual Disability 58 |
13 |
1693 |
c
|
NNS094 |
Non-Syndromic X-Linked Intellectual Disability 72 |
13 |
1694 |
c
|
ART170 |
Arthrogryposis Multiplex Congenita-1 |
13 |
1695 |
c
|
DYS122 |
Dyslexia 3 |
13 |
1696 |
c
|
ART172 |
Arthrogryposis Multiplex Congenita-4 |
12 |
1697 |
c
|
NNS081 |
Non-Syndromic X-Linked Intellectual Disability 81 |
11 |
1698 |
c
|
DYS124 |
Dyslexia 6 |
11 |
1699 |
|
ORG003 |
Organic Mood Syndrome |
11 |
1700 |
c
|
DYS123 |
Dyslexia 5 |
10 |
1701 |
c
|
DYS126 |
Dyslexia 9 |
10 |
1702 |
c
|
NNS074 |
Non-Syndromic X-Linked Intellectual Disability 19 |
9 |
1703 |
|
EGD001 |
Ego-Dystonic Sexual Orientation |
8 |
1704 |
c
|
HYP653 |
Hypospadias 4, X-Linked |
7 |
1705 |
c
|
CRN299 |
Craniosynostosis Syndrome, Autosomal Recessive |
7 |
1706 |
c
|
RRD010 |
Rare Disease with Autism |
7 |
1707 |
|
VSL001 |
Visual Verbal Agnosia |
6 |
1708 |
c
|
NNS079 |
Non-Syndromic X-Linked Intellectual Disability 84 |
6 |
1709 |
c
|
NNS091 |
Non-Syndromic X-Linked Intellectual Disability 88 |
6 |
1710 |
c
|
ATS531 |
Autosomal Recessive Intellectual Developmental Disorder 75 |
6 |
1711 |
c
|
ATS530 |
Autosomal Recessive Intellectual Developmental Disorder 34 |
5 |
1712 |
c
|
BPL001 |
Bipolar Ll Disorder |
4 |
1713 |
c
|
CRN093 |
Craniosynostosis Autosomal Dominant |
4 |
1714 |
|
FTL063 |
Fetal Nicotine Spectrum Disorder |
3 |
1715 |
|
ALP100 |
Alpha-Thalassemia/mental Retardation Syndrome, X-Linked |
49 |
1716 |
|
ALP093 |
Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related |
25 |
1717 |
|
ENC039 |
Encephalopathy, Familial, with Neuroserpin Inclusion Bodies |
50 |
1718 |
P
|
HRD021 |
Hereditary Sensory Neuropathy |
54 |
1719 |
c
|
NRP041 |
Neuropathy, Hereditary Sensory, Type Ie |
54 |
1720 |
c
|
NRP029 |
Neuropathy, Hereditary Sensory, Type Iic |
42 |
1721 |
c
|
NRP039 |
Neuropathy, Hereditary Sensory, Type Id |
41 |
1722 |
|
CNG495 |
Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay |
37 |
1723 |
c
|
NRP036 |
Neuropathy, Hereditary Sensory, Type if |
29 |
1724 |
|
CHR696 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia |
28 |
1725 |
c
|
SPT021 |
Sptlc1-Related Hereditary Sensory Neuropathy |
15 |
1726 |
|
MNT318 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome |
35 |
1727 |
|
CNG382 |
Congenital Cataracts, Hearing Loss, and Neurodegeneration |
29 |
1728 |
|
INT309 |
Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin |
27 |
1729 |
c
|
CHR408 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
45 |
1730 |
|
OPT062 |
Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures |
43 |
1731 |
c
|
CHR505 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
41 |
1732 |
c
|
CHR642 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
39 |
1733 |
c
|
CHR641 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
38 |
1734 |
c
|
CHR697 |
Charcot-Marie-Tooth Disease X-Linked Recessive 4 |
37 |
1735 |
|
MMS001 |
Momo Syndrome |
29 |
1736 |
|
DBT089 |
Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification |
17 |
1737 |
|
RTN071 |
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism |
15 |
1738 |
|
SCC001 |
Succinic Semialdehyde Dehydrogenase Deficiency |
59 |
1739 |
|
RYS001 |
Reye Syndrome |
52 |
1740 |
|
BHR001 |
Behr Syndrome |
41 |
1741 |
|
SQL002 |
Squalene Synthase Deficiency |
29 |
1742 |
|
NRD073 |
Neurodevelopmental Disorder with Visual Defects and Brain Anomalies |
24 |
1743 |
|
HLP033 |
Halperin-Birk Syndrome |
23 |
1744 |
|
NRD104 |
Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities |
23 |
1745 |
|
TLC002 |
Tolchin-Le Caignec Syndrome |
22 |
1746 |
c
|
MCR256 |
Microphthalmia, Syndromic 9 |
68 |
1747 |
|
CNV004 |
Canavan Disease |
65 |
1748 |
c
|
MCR241 |
Microphthalmia, Syndromic 3 |
59 |
1749 |
|
HPT019 |
Hepatic Encephalopathy |
59 |
1750 |
|
INS001 |
Insulinoma |
59 |
1751 |
c
|
CRD177 |
Ceroid Lipofuscinosis, Neuronal, 1 |
58 |
1752 |
c
|
MCR261 |
Microphthalmia, Syndromic 2 |
52 |
1753 |
c
|
MCR263 |
Microphthalmia, Syndromic 1 |
51 |
1754 |
c
|
MCR251 |
Microphthalmia, Syndromic 6 |
50 |
1755 |
|
SCH018 |
Schizencephaly |
48 |
1756 |
c
|
MCR245 |
Microphthalmia, Syndromic 8 |
46 |
1757 |
c
|
MCR252 |
Microphthalmia, Syndromic 5 |
43 |
1758 |
c
|
MCR212 |
Microphthalmia, Syndromic 12 |
42 |
1759 |
c
|
MCR312 |
Microphthalmia, Syndromic 10 |
40 |
1760 |
|
NVS015 |
Nevus Comedonicus |
35 |
1761 |
P
|
SYN165 |
Syndromic Microphthalmia |
34 |
1762 |
c
|
MCR228 |
Microphthalmia, Syndromic 13 |
33 |
1763 |
c
|
INC033 |
Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2 |
30 |
1764 |
c
|
MCR392 |
Microphthalmia, Syndromic 16 |
30 |
1765 |
c
|
MCR217 |
Microphthalmia, Syndromic 11 |
23 |
1766 |
|
NRD170 |
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment |
20 |
1767 |
|
OPT078 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
17 |
1768 |
|
NRD175 |
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects |
16 |
1769 |
|
NRD173 |
Neurodevelopmental Disorder with Dysmorphic Facies and Skeletal and Brain Abnormalities |
16 |
1770 |
c
|
BSL007 |
Basal Cell Carcinoma |
67 |
1771 |
P
|
FTL069 |
Fetal Akinesia Deformation Sequence 1 |
62 |
1772 |
P
|
FTL002 |
Fatal Familial Insomnia |
56 |
1773 |
P
|
PLG001 |
Pelger-Huet Anomaly |
52 |
1774 |
|
CRB069 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome |
52 |
1775 |
|
WRN002 |
Wernicke-Korsakoff Syndrome |
51 |
1776 |
|
HGH044 |
High Grade Ependymoma |
49 |
1777 |
|
NGL007 |
Ngly1-Deficiency |
46 |
1778 |
|
INF129 |
Infantile Cerebellar-Retinal Degeneration |
45 |
1779 |
|
SPS204 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity |
43 |
1780 |
|
BRN134 |
Brain Malformations with or Without Urinary Tract Defects |
41 |
1781 |
|
AMD002 |
Amed Syndrome, Digenic |
40 |
1782 |
|
WST002 |
Western Equine Encephalitis |
39 |
1783 |
c
|
SPN364 |
Spinocerebellar Ataxia, X-Linked 3 |
39 |
1784 |
c
|
CRN277 |
Craniosynostosis 2 |
38 |
1785 |
P
|
STR001 |
Striatonigral Degeneration |
38 |
1786 |
c
|
FTL070 |
Fetal Akinesia Deformation Sequence 2 |
38 |
1787 |
|
CBL011 |
Cebalid Syndrome |
37 |
1788 |
c
|
FTL072 |
Fetal Akinesia Deformation Sequence 4 |
36 |
1789 |
c
|
STR085 |
Striatonigral Degeneration, Infantile |
35 |
1790 |
|
MGL012 |
Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency |
32 |
1791 |
|
STM015 |
Stomatin-Deficient Cryohydrocytosis with Neurologic Defects |
31 |
1792 |
c
|
FTL071 |
Fetal Akinesia Deformation Sequence 3 |
31 |
1793 |
|
WYB002 |
Wyburn-Mason Syndrome |
30 |
1794 |
|
MNT118 |
Mental Retardation, Anterior Maxillary Protrusion, and Strabismus |
28 |
1795 |
|
CHR713 |
Chromosome Xq21 Deletion Syndrome |
27 |
1796 |
|
NRD051 |
Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness |
27 |
1797 |
|
SCP013 |
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development |
27 |
1798 |
|
NRP046 |
Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers |
24 |
1799 |
|
8P2002 |
8p23.1 Duplication Syndrome |
24 |
1800 |
|
RDL026 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
23 |
1801 |
|
GGN006 |
Gigantiform Cementoma, Familial |
21 |
1802 |
|
SND006 |
Sonoda Syndrome |
21 |
1803 |
c
|
OST149 |
Osteolysis Syndrome, Recessive |
19 |
1804 |
|
MTP027 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
19 |
1805 |
|
CYS040 |
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation |
18 |
1806 |
|
ARL006 |
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation |
18 |
1807 |
|
HST012 |
Histidinuria Renal Tubular Defect |
17 |
1808 |
|
NRD172 |
Neurodevelopmental Disorder with Poor Growth, Spastic Tetraplegia, and Hearing Loss |
15 |
1809 |
c
|
BCL018 |
Bcl11a-Related Intellectual Disability |
15 |
1810 |
c
|
SPR166 |
Sporadic Fatal Insomnia |
15 |
1811 |
|
ECT104 |
Ectodermal Dysplasia with Mental Retardation and Syndactyly |
14 |
1812 |
|
GRW038 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy |
13 |
1813 |
|
EHL082 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
13 |
1814 |
|
RNL121 |
Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies |
13 |
1815 |
|
EPD032 |
Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation |
12 |
1816 |
|
NPH050 |
Nephropathy, Progressive, with Deafness |
12 |
1817 |
|
SPN396 |
Spinal Muscular Atrophy with Mental Retardation |
12 |
1818 |
|
RRR001 |
Rere-Related Disorders |
12 |
1819 |
c
|
PSD024 |
Pseudo Pelger-Huet Anomaly |
11 |
1820 |
|
PRN067 |
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness |
10 |
1821 |
|
ICH027 |
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin |
9 |
1822 |
P
|
PRM337 |
Primary Osteolysis |
9 |
1823 |
|
SPT025 |
Sptbn4 Disorder |
9 |
1824 |
|
RRG014 |
Rare Genetic Developmental Defect During Embryogenesis |
7 |
1825 |
|
EMP013 |
Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation |
5 |
1826 |
|
DSL004 |
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation |
5 |
1827 |
|
PRG135 |
Progressive Dementia with Neuroserpin Inclusion Bodies |
5 |
1828 |
|
KZN001 |
Kuzniecky Andermann Syndrome |
4 |
1829 |
|
RRD016 |
Rare Developmental Defect with Skin/mucosae Involvement |
4 |
1830 |
P
|
MJR001 |
Major Depressive Disorder |
75 |
1831 |
|
BRN028 |
Brain Cancer |
75 |
1832 |
P
|
JBR020 |
Joubert Syndrome 1 |
72 |
1833 |
c
|
MSC170 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
69 |
1834 |
|
PSY004 |
Psychotic Disorder |
69 |
1835 |
|
APN008 |
Apnea, Obstructive Sleep |
68 |
1836 |
|
OBS002 |
Obsessive-Compulsive Disorder |
67 |
1837 |
|
ALC007 |
Alcohol Dependence |
65 |
1838 |
c
|
ART144 |
Arthrogryposis, Distal, Type 1a |
65 |
1839 |
c
|
PRX045 |
Peroxisome Biogenesis Disorder 1b |
65 |
1840 |
P
|
TTH002 |
Tooth Agenesis |
63 |
1841 |
P
|
PRS038 |
Personality Disorder |
63 |
1842 |
c
|
PNS012 |
Paine Syndrome |
63 |
1843 |
P
|
EPL198 |
Epilepsy, Myoclonic Juvenile |
62 |
1844 |
P
|
DST002 |
Distal Arthrogryposis |
61 |
1845 |
c
|
ART061 |
Arthrogryposis, Distal, Type 2a |
60 |
1846 |
c
|
PRX059 |
Peroxisome Biogenesis Disorder 1a |
59 |
1847 |
|
PST028 |
Post-Traumatic Stress Disorder |
59 |
1848 |
P
|
CHR625 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1b |
59 |
1849 |
c
|
LSS005 |
Lissencephaly 1 |
59 |
1850 |
|
DYS161 |
Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency |
59 |
1851 |
c
|
LSS006 |
Lissencephaly 2 |
59 |
1852 |
c
|
MSC169 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
58 |
1853 |
|
BLM002 |
Bulimia Nervosa |
58 |
1854 |
c
|
CHR627 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a |
58 |
1855 |
P
|
LMB006 |
Limb-Girdle Muscular Dystrophy |
56 |
1856 |
c
|
ART120 |
Arthrogryposis, Distal, Type 3 |
55 |
1857 |
|
APH002 |
Aphasia |
55 |
1858 |
c
|
JBR041 |
Joubert Syndrome 3 |
55 |
1859 |
|
GNR004 |
Generalized Anxiety Disorder |
54 |
1860 |
|
DSS008 |
Disease of Mental Health |
53 |
1861 |
c
|
LKD019 |
Leukodystrophy, Hypomyelinating, 6 |
53 |
1862 |
P
|
LSS037 |
Lissencephaly, X-Linked, 2 |
53 |
1863 |
c
|
ART119 |
Arthrogryposis, Distal, Type 5 |
53 |
1864 |
P
|
PRV006 |
Pervasive Developmental Disorder |
53 |
1865 |
|
STT041 |
Stuttering |
53 |
1866 |
c
|
PNT057 |
Pontocerebellar Hypoplasia, Type 1e |
52 |
1867 |
|
APR001 |
Apraxia |
52 |
1868 |
P
|
BSL038 |
Basal Ganglia Calcification, Idiopathic, 1 |
52 |
1869 |
P
|
TCD001 |
Tic Disorder |
52 |
1870 |
|
MNT002 |
Mental Depression |
51 |
1871 |
c
|
LKD010 |
Leukodystrophy, Hypomyelinating, 2 |
51 |
1872 |
c
|
LKD009 |
Leukodystrophy, Hypomyelinating, 5 |
50 |
1873 |
|
SMT006 |
Somatoform Disorder |
50 |
1874 |
c
|
CHR656 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1f |
50 |
1875 |
c
|
ART155 |
Arthrogryposis, Distal, Type 2b1 |
50 |
1876 |
|
MLD018 |
Mild Cognitive Impairment |
50 |
1877 |
c
|
MSC176 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
50 |
1878 |
c
|
JBR004 |
Joubert Syndrome 2 |
50 |
1879 |
c
|
PNT049 |
Pontocerebellar Hypoplasia, Type 2d |
50 |
1880 |
c
|
PNT037 |
Pontocerebellar Hypoplasia, Type 3 |
49 |
1881 |
c
|
MSC175 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
49 |
1882 |
|
HYP016 |
Hypochondriasis |
49 |
1883 |
c
|
MCR239 |
Microcephaly 5, Primary, Autosomal Recessive |
49 |
1884 |
c
|
JBR012 |
Joubert Syndrome 5 |
48 |
1885 |
|
PRG033 |
Progressive Non-Fluent Aphasia |
48 |
1886 |
c
|
LSS036 |
Lissencephaly, X-Linked, 1 |
48 |
1887 |
c
|
MSC173 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
48 |
1888 |
|
ADJ001 |
Adjustment Disorder |
48 |
1889 |
c
|
JBR013 |
Joubert Syndrome 8 |
48 |
1890 |
c
|
CHR647 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1c |
48 |
1891 |
c
|
ART147 |
Arthrogryposis, Distal, Type 7 |
48 |
1892 |
P
|
CHR345 |
Chronic Pain |
48 |
1893 |
P
|
ASP001 |
Asperger Syndrome |
47 |
1894 |
|
FRG008 |
Fragile X-Associated Tremor/ataxia Syndrome |
47 |
1895 |
c
|
JBR025 |
Joubert Syndrome 17 |
47 |
1896 |
c
|
LKD020 |
Leukodystrophy, Hypomyelinating, 10 |
47 |
1897 |
|
ARB005 |
Arboleda-Tham Syndrome |
47 |
1898 |
c
|
JBR024 |
Joubert Syndrome 14 |
47 |
1899 |
c
|
MSC178 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
47 |
1900 |
P
|
PNT019 |
Pontocerebellar Hypoplasia |
46 |
1901 |
c
|
ATS298 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b |
46 |
1902 |
c
|
JBR035 |
Joubert Syndrome 24 |
46 |
1903 |
c
|
JBR043 |
Joubert Syndrome 32 |
46 |
1904 |
c
|
MSC172 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
46 |
1905 |
c
|
JBR031 |
Joubert Syndrome 21 |
46 |
1906 |
c
|
CHR670 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f |
46 |
1907 |
c
|
ATS279 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a |
46 |
1908 |
c
|
INT520 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
46 |
1909 |
c
|
PNT043 |
Pontocerebellar Hypoplasia, Type 4 |
46 |
1910 |
c
|
LSS010 |
Lissencephaly 4 |
46 |
1911 |
c
|
JBR022 |
Joubert Syndrome 20 |
45 |
1912 |
c
|
JBR011 |
Joubert Syndrome 7 |
45 |
1913 |
c
|
PNT045 |
Pontocerebellar Hypoplasia, Type 1a |
45 |
1914 |
c
|
ATS207 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j |
45 |
1915 |
c
|
FML363 |
Familial Adult Myoclonic Epilepsy |
44 |
1916 |
c
|
MSC174 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
44 |
1917 |
c
|
JBR026 |
Joubert Syndrome 15 |
44 |
1918 |
c
|
PNT044 |
Pontocerebellar Hypoplasia, Type 2a |
44 |
1919 |
c
|
JBR042 |
Joubert Syndrome 23 |
44 |
1920 |
c
|
MSC177 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
43 |
1921 |
c
|
JBR018 |
Joubert Syndrome 4 |
43 |
1922 |
c
|
JBR016 |
Joubert Syndrome 10 |
43 |
1923 |
c
|
ATS246 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c |
43 |
1924 |
c
|
ART104 |
Arthrogryposis, Distal, Type 5d |
43 |
1925 |
c
|
MSC171 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
43 |
1926 |
c
|
LSS009 |
Lissencephaly 3 |
43 |
1927 |
c
|
PNT051 |
Pontocerebellar Hypoplasia, Type 1d |
43 |
1928 |
|
XLN195 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
43 |
1929 |
P
|
NNS032 |
Non-Syndromic X-Linked Intellectual Disability |
43 |
1930 |
c
|
ATS277 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d |
43 |
1931 |
c
|
MYC083 |
Myoclonic Epilepsy, Familial Infantile |
43 |
1932 |
c
|
ATS331 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy |
42 |
1933 |
P
|
INT399 |
Intellectual Developmental Disorder, X-Linked 109 |
42 |
1934 |
|
CYC008 |
Cyclic Vomiting Syndrome |
42 |
1935 |
c
|
ATS217 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l |
42 |
1936 |
|
INT504 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
41 |
1937 |
c
|
PNT035 |
Pontocerebellar Hypoplasia, Type 1c |
41 |
1938 |
c
|
CHR653 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1d |
41 |
1939 |
c
|
MSC179 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
41 |
1940 |
|
CHR501 |
Chromosome 17q12 Deletion Syndrome |
41 |
1941 |
c
|
ART157 |
Arthrogryposis, Distal, Type 2b3 |
41 |
1942 |
c
|
LKD016 |
Leukodystrophy, Hypomyelinating, 9 |
41 |
1943 |
c
|
MSC180 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
41 |
1944 |
c
|
PNT039 |
Pontocerebellar Hypoplasia, Type 7 |
41 |
1945 |
c
|
JBR015 |
Joubert Syndrome 6 |
40 |
1946 |
c
|
ATS297 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f |
40 |
1947 |
c
|
JBR030 |
Joubert Syndrome 22 |
40 |
1948 |
P
|
KNB001 |
Knobloch Syndrome |
40 |
1949 |
P
|
CNG629 |
Congenital Disorder of Deglycosylation 1 |
39 |
1950 |
c
|
LSS025 |
Lissencephaly 5 |
39 |
1951 |
c
|
INT536 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
39 |
1952 |
c
|
JBR028 |
Joubert Syndrome 13 |
39 |
1953 |
c
|
PRX054 |
Peroxisome Biogenesis Disorder 12a |
39 |
1954 |
c
|
JBR037 |
Joubert Syndrome 26 |
39 |
1955 |
c
|
LSS042 |
Lissencephaly 10 |
39 |
1956 |
c
|
JBR027 |
Joubert Syndrome 16 |
39 |
1957 |
c
|
LKD008 |
Leukodystrophy, Hypomyelinating, 4 |
39 |
1958 |
c
|
PRX055 |
Peroxisome Biogenesis Disorder 11a |
39 |
1959 |
c
|
MSC183 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
39 |
1960 |
c
|
MSC181 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
38 |
1961 |
|
ASP024 |
Asparagine Synthetase Deficiency |
38 |
1962 |
c
|
SCH056 |
Schizophrenia 15 |
38 |
1963 |
c
|
PNT050 |
Pontocerebellar Hypoplasia, Type 11 |
38 |
1964 |
c
|
ATS525 |
Autosomal Dominant Intellectual Developmental Disorder 8 |
38 |
1965 |
c
|
INT542 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
37 |
1966 |
c
|
LKD021 |
Leukodystrophy, Hypomyelinating, 11 |
37 |
1967 |
c
|
JBR036 |
Joubert Syndrome 25 |
37 |
1968 |
c
|
KNB006 |
Knobloch Syndrome 1 |
37 |
1969 |
c
|
ART156 |
Arthrogryposis, Distal, Type 2b2 |
37 |
1970 |
c
|
PRX063 |
Peroxisome Biogenesis Disorder 2a |
37 |
1971 |
c
|
JBR021 |
Joubert Syndrome 18 |
37 |
1972 |
c
|
MSC184 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
37 |
1973 |
c
|
ART112 |
Arthrogryposis, Distal, Type 10 |
37 |
1974 |
c
|
EPL203 |
Epilepsy, Familial Adult Myoclonic, 2 |
36 |
1975 |
c
|
ATS299 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g |
36 |
1976 |
c
|
JBR040 |
Joubert Syndrome 30 |
36 |
1977 |
P
|
ENC056 |
Encephalopathy, Acute, Infection-Induced 4 |
36 |
1978 |
c
|
ATS211 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q |
36 |
1979 |
c
|
PRX060 |
Peroxisome Biogenesis Disorder 5a |
36 |
1980 |
P
|
HYP700 |
Hypomyelinating Leukodystrophy |
36 |
1981 |
c
|
INT455 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
35 |
1982 |
c
|
LSS035 |
Lissencephaly 8 |
35 |
1983 |
|
DVL001 |
Developmental Coordination Disorder |
35 |
1984 |
c
|
PRX050 |
Peroxisome Biogenesis Disorder 9b |
35 |
1985 |
c
|
ART168 |
Arthrogryposis, Distal, Type 1c |
35 |
1986 |
c
|
JBR045 |
Joubert Syndrome 33 |
35 |
1987 |
c
|
EPL155 |
Epilepsy, Progressive Myoclonic, 8 |
35 |
1988 |
c
|
EPL207 |
Epilepsy, Progressive Myoclonic, 1b |
34 |
1989 |
|
FTL007 |
Fetal Hydantoin Syndrome |
34 |
1990 |
c
|
PNT052 |
Pontocerebellar Hypoplasia, Type 12 |
34 |
1991 |
|
PRC054 |
Perching Syndrome |
34 |
1992 |
|
MLD017 |
Mal De Debarquement Syndrome |
34 |
1993 |
c
|
MSC189 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
34 |
1994 |
c
|
EPL134 |
Epilepsy, Progressive Myoclonic 7 |
34 |
1995 |
c
|
JBR014 |
Joubert Syndrome 9 |
34 |
1996 |
c
|
PRX057 |
Peroxisome Biogenesis Disorder 4a |
34 |
1997 |
c
|
PNT030 |
Pontocerebellar Hypoplasia, Type 8 |
34 |
1998 |
c
|
PNT042 |
Pontocerebellar Hypoplasia, Type 2f |
34 |
1999 |
c
|
PRX065 |
Peroxisome Biogenesis Disorder 3a |
34 |
2000 |
c
|
LMB073 |
Limb-Girdle Muscular Dystrophy Type 1a |
34 |
2001 |
c
|
INT550 |
Intellectual Developmental Disorder, Autosomal Dominant 41 |
34 |
2002 |
|
MCR321 |
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation |
34 |
2003 |
|
VNT030 |
Ventriculomegaly with Cystic Kidney Disease |
33 |
2004 |
c
|
PRX051 |
Peroxisome Biogenesis Disorder 6a |
33 |
2005 |
c
|
CRT081 |
Cortical Dysplasia, Complex, with Other Brain Malformations 7 |
33 |
2006 |
|
CHR379 |
Chromosome 15q26-Qter Deletion Syndrome |
33 |
2007 |
c
|
INT514 |
Intellectual Developmental Disorder, Autosomal Dominant 3 |
32 |
2008 |
c
|
PRX046 |
Peroxisome Biogenesis Disorder 7a |
32 |
2009 |
|
MGC007 |
Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations |
32 |
2010 |
c
|
EPL053 |
Epilepsy, Familial Adult Myoclonic, 3 |
32 |
2011 |
c
|
HYP698 |
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 |
32 |
2012 |
|
MRC001 |
Marchiafava Bignami Disease |
32 |
2013 |
c
|
INT430 |
Intellectual Developmental Disorder, X-Linked 98 |
32 |
2014 |
c
|
INT551 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
32 |
2015 |
c
|
HYP723 |
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 |
32 |
2016 |
|
SDN002 |
Sudanophilic Cerebral Sclerosis |
32 |
2017 |
c
|
INT557 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
32 |
2018 |
|
SYN091 |
Syndromic X-Linked Intellectual Disability Nascimento Type |
32 |
2019 |
|
SML010 |
Simultanagnosia |
31 |
2020 |
|
RMN001 |
Rumination Disorder |
31 |
2021 |
|
BSL045 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
31 |
2022 |
c
|
ATS280 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h |
31 |
2023 |
c
|
PRX048 |
Peroxisome Biogenesis Disorder 10a |
31 |
2024 |
|
DSS002 |
Dissociative Amnesia |
31 |
2025 |
c
|
EPL201 |
Epilepsy, Familial Adult Myoclonic, 1 |
31 |
2026 |
|
WSS006 |
Weiss-Kruszka Syndrome |
31 |
2027 |
c
|
ATS330 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy |
31 |
2028 |
c
|
INT507 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
31 |
2029 |
c
|
EPL188 |
Epilepsy, Progressive Myoclonic, 10 |
31 |
2030 |
c
|
RNG017 |
Ring Chromosome 21 |
31 |
2031 |
P
|
ATS522 |
Autosomal Dominant Intellectual Developmental Disorder |
31 |
2032 |
|
RGN005 |
Regional Odontodysplasia |
31 |
2033 |
|
ENC059 |
Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity |
30 |
2034 |
P
|
PRX064 |
Peroxisome Biogenesis Disorder 2b |
30 |
2035 |
|
CHR265 |
Chromosome 8p Duplication |
30 |
2036 |
c
|
ART060 |
Arthrogryposis, Distal, Type 1b |
30 |
2037 |
c
|
MSC058 |
Muscular Dystrophy, Limb-Girdle, Type 1h |
30 |
2038 |
c
|
RNG004 |
Ring Chromosome 1 |
30 |
2039 |
c
|
JBR039 |
Joubert Syndrome 28 |
30 |
2040 |
c
|
PRX058 |
Peroxisome Biogenesis Disorder 4b |
30 |
2041 |
c
|
PRX052 |
Peroxisome Biogenesis Disorder 13a |
30 |
2042 |
c
|
EPL103 |
Epilepsy, Familial Adult Myoclonic, 5 |
30 |
2043 |
c
|
INT549 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
30 |
2044 |
c
|
SPS244 |
Spastic Paraplegia 86, Autosomal Recessive |
30 |
2045 |
c
|
PNT046 |
Pontocerebellar Hypoplasia, Type 5 |
30 |
2046 |
c
|
SCH087 |
Schizophrenia 18 |
29 |
2047 |
c
|
PNT056 |
Pontocerebellar Hypoplasia, Type 15 |
29 |
2048 |
|
CHR209 |
Chromosome 17p Duplication |
29 |
2049 |
c
|
CFF017 |
Coffin-Siris Syndrome 12 |
29 |
2050 |
c
|
PRX066 |
Peroxisome Biogenesis Disorder 3b |
29 |
2051 |
c
|
MSC191 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
29 |
2052 |
c
|
EPL154 |
Epilepsy, Progressive Myoclonic, 9 |
28 |
2053 |
c
|
PRX091 |
Peroxisome Biogenesis Disorder 8a |
28 |
2054 |
c
|
PRX043 |
Peroxisome Biogenesis Disorder 6b |
28 |
2055 |
|
MSC016 |
Mosaic Trisomy 14 |
28 |
2056 |
c
|
PRX047 |
Peroxisome Biogenesis Disorder 5b |
28 |
2057 |
c
|
RNG024 |
Ring Chromosome 8 |
28 |
2058 |
c
|
PRX053 |
Peroxisome Biogenesis Disorder 14b |
28 |
2059 |
|
PST044 |
Postorgasmic Illness Syndrome |
28 |
2060 |
c
|
MYC086 |
Myoclonic Epilepsy, Juvenile 4 |
28 |
2061 |
c
|
PNT047 |
Pontocerebellar Hypoplasia, Type 2b |
28 |
2062 |
c
|
LKD028 |
Leukodystrophy, Hypomyelinating, 15 |
28 |
2063 |
c
|
CRN217 |
Craniosynostosis 3 |
28 |
2064 |
c
|
LKD030 |
Leukodystrophy, Hypomyelinating, 17 |
28 |
2065 |
|
16Q001 |
16q24.3 Microdeletion Syndrome |
28 |
2066 |
c
|
ATS527 |
Autosomal Dominant Intellectual Developmental Disorder 31 |
28 |
2067 |
c
|
SCH085 |
Schizophrenia 2 |
27 |
2068 |
c
|
PRX068 |
Peroxisome Biogenesis Disorder 7b |
27 |
2069 |
c
|
MYC068 |
Myoclonic Epilepsy of Infancy |
27 |
2070 |
|
THV001 |
Thauvin-Robinet-Faivre Syndrome |
27 |
2071 |
c
|
EPL107 |
Epilepsy, Familial Adult Myoclonic, 4 |
27 |
2072 |
c
|
ART128 |
Arthrogryposis, Distal, Type 6 |
27 |
2073 |
c
|
ART131 |
Arthrogryposis, Distal, Type 4 |
27 |
2074 |
c
|
INT562 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
27 |
2075 |
c
|
INT563 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
27 |
2076 |
|
SYN079 |
Syndromic X-Linked Intellectual Disability Siderius Type |
27 |
2077 |
|
INT369 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type |
27 |
2078 |
c
|
MSC187 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
27 |
2079 |
c
|
JBR044 |
Joubert Syndrome 31 |
27 |
2080 |
c
|
EPL228 |
Epilepsy, Familial Adult Myoclonic, 7 |
27 |
2081 |
P
|
HRD084 |
Hereditary Cerebral Amyloid Angiopathy |
27 |
2082 |
c
|
ENC060 |
Encephalopathy, Acute, Infection-Induced 1 |
27 |
2083 |
c
|
INT517 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
27 |
2084 |
c
|
ATS333 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x |
27 |
2085 |
|
NVD003 |
Nevoid Hypermelanosis, Linear and Whorled |
27 |
2086 |
c
|
BSL032 |
Basal Ganglia Calcification, Idiopathic, 4 |
26 |
2087 |
c
|
PNT055 |
Pontocerebellar Hypoplasia, Type 14 |
26 |
2088 |
c
|
LKD027 |
Leukodystrophy, Hypomyelinating, 14 |
26 |
2089 |
c
|
BSL046 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
26 |
2090 |
c
|
PRX062 |
Peroxisome Biogenesis Disorder 8b |
26 |
2091 |
c
|
LKD031 |
Leukodystrophy, Hypomyelinating, 18 |
26 |
2092 |
c
|
EPL227 |
Epilepsy, Familial Adult Myoclonic, 6 |
26 |
2093 |
|
WCK004 |
Wieacker-Wolff Syndrome, Female-Restricted |
26 |
2094 |
c
|
INT561 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
26 |
2095 |
c
|
JBR049 |
Joubert Syndrome 37 |
26 |
2096 |
|
DRG004 |
Drug-Induced Mental Disorder |
26 |
2097 |
|
RDT018 |
Radio-Tartaglia Syndrome |
25 |
2098 |
|
INT458 |
Intellectual Developmental Disorder, Autosomal Recessive 18, with or Without Epilepsy |
25 |
2099 |
|
LSS039 |
Lissencephaly 6 with Microcephaly |
25 |
2100 |
c
|
RTS005 |
Ritscher-Schinzel Syndrome 4 |
25 |
2101 |
c
|
LKD029 |
Leukodystrophy, Hypomyelinating, 16 |
25 |
2102 |
c
|
LMB074 |
Limb-Girdle Muscular Dystrophy Type 1b |
25 |
2103 |
c
|
DYS185 |
Dystonia 13, Torsion, Autosomal Dominant |
25 |
2104 |
c
|
CNG630 |
Congenital Disorder of Deglycosylation 2 |
25 |
2105 |
c
|
ATS358 |
Autism X-Linked 6 |
25 |
2106 |
c
|
SCH073 |
Schizophrenia 9 |
25 |
2107 |
c
|
BSL049 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
25 |
2108 |
c
|
KNB005 |
Knobloch Syndrome 2 |
25 |
2109 |
c
|
INT506 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
24 |
2110 |
|
NRD068 |
Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia |
24 |
2111 |
c
|
PRX056 |
Peroxisome Biogenesis Disorder 11b |
24 |
2112 |
c
|
INT523 |
Intellectual Developmental Disorder, Autosomal Dominant 10 |
24 |
2113 |
c
|
BSL035 |
Basal Ganglia Calcification, Idiopathic, 5 |
24 |
2114 |
c
|
ATS524 |
Autosomal Dominant Intellectual Developmental Disorder 6 |
24 |
2115 |
c
|
INT471 |
Intellectual Developmental Disorder, Autosomal Recessive 27 |
24 |
2116 |
|
HLP032 |
Holoprosencephaly 13, X-Linked |
24 |
2117 |
c
|
ATS332 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w |
24 |
2118 |
c
|
INT344 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
24 |
2119 |
c
|
INT336 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
24 |
2120 |
c
|
ATS268 |
Autism X-Linked 4 |
24 |
2121 |
c
|
CHR724 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1i |
24 |
2122 |
c
|
JBR047 |
Joubert Syndrome 35 |
24 |
2123 |
c
|
BSL039 |
Basal Ganglia Calcification, Idiopathic, 6 |
24 |
2124 |
|
16P004 |
16p13.11 Microduplication Syndrome |
24 |
2125 |
c
|
JBR038 |
Joubert Syndrome 27 |
24 |
2126 |
c
|
ADV006 |
Advanced Sleep Phase Syndrome, Familial, 3 |
24 |
2127 |
c
|
INT559 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
24 |
2128 |
|
MYC075 |
Myoclonus, Intractable, Neonatal |
24 |
2129 |
|
SPN425 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
24 |
2130 |
c
|
INT477 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
24 |
2131 |
c
|
INT397 |
Intellectual Developmental Disorder, X-Linked 50 |
24 |
2132 |
c
|
JBR050 |
Joubert Syndrome 38 |
24 |
2133 |
|
ADT001 |
Auditory Agnosia |
24 |
2134 |
c
|
NNS112 |
Non-Syndromic X-Linked Intellectual Disability 21 |
24 |
2135 |
c
|
ENC064 |
Encephalopathy, Acute, Infection-Induced 8 |
24 |
2136 |
c
|
LKD032 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
23 |
2137 |
c
|
ASP032 |
Asperger Syndrome 1 |
23 |
2138 |
c
|
INT462 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
23 |
2139 |
c
|
INT345 |
Intellectual Developmental Disorder, Autosomal Recessive 70 |
23 |
2140 |
c
|
ENC037 |
Encephalopathy, Acute, Infection-Induced 6 |
23 |
2141 |
c
|
MSC186 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
23 |
2142 |
c
|
CFF016 |
Coffin-Siris Syndrome 11 |
23 |
2143 |
c
|
INT540 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
23 |
2144 |
c
|
CHR725 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1h |
23 |
2145 |
c
|
JBR048 |
Joubert Syndrome 36 |
23 |
2146 |
c
|
CHR681 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1g |
23 |
2147 |
|
ONY008 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, and Seizures Syndrome |
23 |
2148 |
c
|
INT364 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
23 |
2149 |
c
|
INT468 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
23 |
2150 |
|
INT456 |
Intellectual Developmental Disorder with Hypotonia, Impaired Speech, and Dysmorphic Facies |
23 |
2151 |
|
CHR639 |
Chromosome Xp11.22 Duplication Syndrome |
23 |
2152 |
c
|
CRN216 |
Craniosynostosis 5 |
23 |
2153 |
|
MCR253 |
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma |
23 |
2154 |
|
CRP036 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
23 |
2155 |
c
|
MYC085 |
Myoclonic Epilepsy, Juvenile 3 |
23 |
2156 |
c
|
JBR051 |
Joubert Syndrome 39 |
23 |
2157 |
c
|
CNT068 |
Central Pain Syndrome |
22 |
2158 |
|
ATX050 |
Ataxia, Intention Tremor, and Hypotonia Syndrome, Childhood-Onset |
22 |
2159 |
c
|
ATS529 |
Autosomal Dominant Intellectual Developmental Disorder 40 |
22 |
2160 |
c
|
MSC202 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
22 |
2161 |
c
|
NPH107 |
Nephrotic Syndrome, Type 19 |
22 |
2162 |
c
|
PNT048 |
Pontocerebellar Hypoplasia, Type 2c |
22 |
2163 |
c
|
INT398 |
Intellectual Developmental Disorder, Autosomal Recessive 12 |
22 |
2164 |
c
|
JBR052 |
Joubert Syndrome 40 |
22 |
2165 |
c
|
EPL210 |
Epilepsy, Progressive Myoclonic, 6 |
22 |
2166 |
c
|
ENC070 |
Encephalopathy, Acute, Infection-Induced 9 |
22 |
2167 |
|
LNG104 |
Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia |
22 |
2168 |
c
|
INT519 |
Intellectual Developmental Disorder, Autosomal Recessive 14 |
22 |
2169 |
c
|
GLY104 |
Glycosylphosphatidylinositol Biosynthesis Defect 16 |
22 |
2170 |
c
|
NNS088 |
Non-Syndromic X-Linked Intellectual Disability 63 |
22 |
2171 |
c
|
INT474 |
Intellectual Developmental Disorder, Autosomal Recessive 43 |
22 |
2172 |
|
SPN409 |
Spongiform Encephalopathy with Neuropsychiatric Features |
22 |
2173 |
|
CHR507 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
22 |
2174 |
c
|
ENC063 |
Encephalopathy, Acute, Infection-Induced 7 |
22 |
2175 |
c
|
LKD033 |
Leukodystrophy, Hypomyelinating, 20 |
21 |
2176 |
c
|
EPL217 |
Epilepsy, Juvenile Myoclonic 10 |
21 |
2177 |
c
|
INT553 |
Intellectual Developmental Disorder, Autosomal Recessive 60 |
21 |
2178 |
c
|
INT480 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
21 |
2179 |
c
|
PRX089 |
Peroxisome Biogenesis Disorder 10b |
21 |
2180 |
c
|
LKD034 |
Leukodystrophy, Hypomyelinating, 21 |
21 |
2181 |
c
|
INT565 |
Intellectual Developmental Disorder, Autosomal Recessive 64 |
21 |
2182 |
|
CRB164 |
Cerebrooculonasal Syndrome |
21 |
2183 |
|
MLT148 |
Multiple Pterygium Syndrome, X-Linked |
21 |
2184 |
|
CMB101 |
Combined Oxidative Phosphorylation Deficiency 45 |
21 |
2185 |
c
|
PNT060 |
Pontocerebellar Hypoplasia, Type 17 |
21 |
2186 |
c
|
ENC062 |
Encephalopathy, Acute, Infection-Induced 5 |
21 |
2187 |
c
|
INT464 |
Intellectual Developmental Disorder, Autosomal Recessive 51 |
21 |
2188 |
P
|
USM001 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
21 |
2189 |
|
BDY022 |
Body Integrity Dysphoria |
21 |
2190 |
|
19P001 |
19p13.12 Microdeletion Syndrome |
20 |
2191 |
c
|
EPL257 |
Epilepsy, Progressive Myoclonic, 12 |
20 |
2192 |
c
|
MSC199 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
20 |
2193 |
c
|
ENC072 |
Encephalopathy, Acute, Infection-Induced 10 |
20 |
2194 |
c
|
INT534 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
20 |
2195 |
c
|
ATS354 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z |
20 |
2196 |
c
|
INT564 |
Intellectual Developmental Disorder, Autosomal Recessive 63 |
20 |
2197 |
|
INF174 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development |
19 |
2198 |
|
MTC222 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
19 |
2199 |
c
|
ART175 |
Arthrogryposis, Distal, Type 11 |
19 |
2200 |
|
SYN083 |
Syndromic X-Linked Intellectual Disability Shashi Type |
19 |
2201 |
|
DSS025 |
Dissociative Seizures |
19 |
2202 |
c
|
INT467 |
Intellectual Developmental Disorder, Autosomal Recessive 56 |
19 |
2203 |
c
|
ART054 |
Arthrogryposis, Distal, Type 2e |
18 |
2204 |
|
MTC226 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
18 |
2205 |
c
|
LSS044 |
Lissencephaly 6 |
18 |
2206 |
c
|
INT576 |
Intellectual Developmental Disorder, Autosomal Recessive 76 |
18 |
2207 |
c
|
INT541 |
Intellectual Developmental Disorder, Autosomal Recessive 45 |
18 |
2208 |
c
|
ASP031 |
Asperger Syndrome 2 |
18 |
2209 |
c
|
INT463 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
18 |
2210 |
c
|
NNS119 |
Non-Syndromic X-Linked Intellectual Disability 96 |
18 |
2211 |
|
DFN391 |
Deafness, Cataract, Impaired Intellectual Development, and Polyneuropathy |
17 |
2212 |
c
|
INT465 |
Intellectual Developmental Disorder, Autosomal Recessive 52 |
17 |
2213 |
c
|
USM002 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
17 |
2214 |
c
|
INT531 |
Intellectual Developmental Disorder, Autosomal Recessive 25 |
17 |
2215 |
c
|
INT510 |
Intellectual Developmental Disorder, Autosomal Recessive 10 |
17 |
2216 |
c
|
NNS124 |
Non-Syndromic X-Linked Intellectual Disability 101 |
17 |
2217 |
c
|
NGL006 |
Ngly1-Related Congenital Disorder of Deglycosylation |
17 |
2218 |
c
|
CHR732 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1j |
17 |
2219 |
c
|
MJR013 |
Major Depressive Disorder 1 |
16 |
2220 |
c
|
INT526 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
16 |
2221 |
c
|
INT530 |
Intellectual Developmental Disorder, Autosomal Recessive 24 |
16 |
2222 |
c
|
MJR014 |
Major Depressive Disorder 2 |
16 |
2223 |
c
|
SYN077 |
Syndromic X-Linked Intellectual Disability 12 |
16 |
2224 |
c
|
NNS118 |
Non-Syndromic X-Linked Intellectual Disability 99 |
16 |
2225 |
c
|
INT525 |
Intellectual Developmental Disorder, Autosomal Recessive 29 |
16 |
2226 |
c
|
INT522 |
Intellectual Developmental Disorder, Autosomal Recessive 16 |
15 |
2227 |
c
|
INT532 |
Intellectual Developmental Disorder, Autosomal Recessive 28 |
15 |
2228 |
c
|
EPL186 |
Epilepsy, Juvenile Myoclonic 9 |
15 |
2229 |
c
|
PMG002 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
14 |
2230 |
c
|
NNS123 |
Non-Syndromic X-Linked Intellectual Disability 97 |
14 |
2231 |
c
|
INT524 |
Intellectual Developmental Disorder, Autosomal Recessive 31 |
14 |
2232 |
c
|
NNS114 |
Non-Syndromic X-Linked Intellectual Disability 106 |
14 |
2233 |
|
DYS044 |
Dysmorphism Cleft Palate Loose Skin |
14 |
2234 |
|
ALC013 |
Alcohol-Induced Mental Disorder |
13 |
2235 |
c
|
ASP033 |
Asperger Syndrome 3 |
13 |
2236 |
c
|
NNS122 |
Non-Syndromic X-Linked Intellectual Disability 98 |
12 |
2237 |
c
|
ASP034 |
Asperger Syndrome 4 |
12 |
2238 |
c
|
NNS125 |
Non-Syndromic X-Linked Intellectual Disability 107 |
10 |
2239 |
c
|
NNS130 |
Non-Syndromic X-Linked Intellectual Disability 23 |
10 |
2240 |
c
|
NNS127 |
Nonsyndromic Tooth Agenesis |
9 |
2241 |
c
|
NNS128 |
Non-Syndromic X-Linked Intellectual Disability 73 |
9 |
2242 |
|
SYN180 |
Syndromic X-Linked Intellectual Disability Shrimpton Type |
9 |
2243 |
c
|
NNS120 |
Non-Syndromic X-Linked Intellectual Disability 105 |
6 |
2244 |
c
|
NNS121 |
Non-Syndromic X-Linked Intellectual Disability 100 |
6 |
2245 |
|
SYN181 |
Syndromic X-Linked Intellectual Disability Chudley-Schwartz Type |
6 |
2246 |
|
SYN094 |
Syndromic X-Linked Mental Retardation Hough Type |
4 |
2247 |
|
NRB018 |
Neurobehavioral Disorder with Prenatal Alcohol Exposure |
3 |
2248 |
c
|
MNN047 |
Mannosidosis, Alpha B, Lysosomal |
70 |
2249 |
|
FRS002 |
Frasier Syndrome |
57 |
2250 |
P
|
MNN019 |
Mannosidosis, Beta a, Lysosomal |
50 |
2251 |
|
GRD009 |
Gordon Holmes Syndrome |
49 |
2252 |
|
CNZ008 |
Coenzyme Q10 Deficiency, Primary, 6 |
41 |
2253 |
|
MCR070 |
Microcornea, Glaucoma, and Absent Frontal Sinuses |
19 |
2254 |
P
|
SCH015 |
Schizophrenia |
76 |
2255 |
P
|
FRN006 |
Frontotemporal Dementia |
72 |
2256 |
|
PCK003 |
Pick Disease of Brain |
71 |
2257 |
|
ANX010 |
Anxiety |
69 |
2258 |
P
|
CNG001 |
Congenital Myasthenic Syndrome |
65 |
2259 |
|
ART002 |
Arts Syndrome |
64 |
2260 |
c
|
ART138 |
Aortic Aneurysm, Familial Abdominal, 1 |
63 |
2261 |
P
|
NPH012 |
Nephrotic Syndrome |
61 |
2262 |
|
PBL005 |
Piebald Trait |
59 |
2263 |
P
|
GNR002 |
Generalized Epilepsy with Febrile Seizures Plus |
56 |
2264 |
c
|
MYS051 |
Myasthenic Syndrome, Congenital, 5 |
56 |
2265 |
|
HLS003 |
Helsmoortel-Van Der Aa Syndrome |
54 |
2266 |
P
|
NRC002 |
Narcolepsy |
54 |
2267 |
c
|
NRC009 |
Narcolepsy 1 |
54 |
2268 |
c
|
NPH049 |
Nephrotic Syndrome, Type 2 |
53 |
2269 |
P
|
MSC022 |
Mosaic Variegated Aneuploidy Syndrome |
52 |
2270 |
P
|
TRC102 |
Trichothiodystrophy 1, Photosensitive |
52 |
2271 |
P
|
PNC025 |
Panic Disorder |
52 |
2272 |
|
HMC041 |
Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity |
51 |
2273 |
c
|
INT483 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
50 |
2274 |
|
DSN001 |
De Sanctis-Cacchione Syndrome |
50 |
2275 |
c
|
NPH102 |
Nephrotic Syndrome, Type 14 |
50 |
2276 |
P
|
PRS062 |
Persistent Hyperplastic Primary Vitreous |
50 |
2277 |
c
|
MSC109 |
Mosaic Variegated Aneuploidy Syndrome 1 |
49 |
2278 |
c
|
HYP597 |
Hyperprolinemia, Type Ii |
48 |
2279 |
P
|
NRM002 |
Normal Pressure Hydrocephalus |
48 |
2280 |
c
|
FML015 |
Familial Nephrotic Syndrome |
47 |
2281 |
|
WHT019 |
White-Sutton Syndrome |
46 |
2282 |
|
CRB169 |
Cerebellar Atrophy, Developmental Delay, and Seizures |
46 |
2283 |
|
NSC005 |
Nescav Syndrome |
45 |
2284 |
c
|
SPR041 |
Spermatogenic Failure 6 |
45 |
2285 |
|
CNV002 |
Conversion Disorder |
45 |
2286 |
c
|
NPH072 |
Nephrotic Syndrome, Type 7 |
44 |
2287 |
c
|
MYS052 |
Myasthenic Syndrome, Congenital, 10 |
43 |
2288 |
c
|
CFF009 |
Coffin-Siris Syndrome 4 |
43 |
2289 |
c
|
SPR043 |
Spermatogenic Failure 9 |
42 |
2290 |
c
|
NPH054 |
Nephrotic Syndrome, Type 3 |
42 |
2291 |
c
|
NPH076 |
Nephrotic Syndrome, Type 10 |
42 |
2292 |
c
|
NRC010 |
Narcolepsy 2 |
41 |
2293 |
c
|
MYS075 |
Myasthenic Syndrome, Congenital, 13 |
41 |
2294 |
c
|
MYS074 |
Myasthenic Syndrome, Congenital, 12 |
41 |
2295 |
c
|
MYS076 |
Myasthenic Syndrome, Congenital, 8 |
41 |
2296 |
|
INT417 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
41 |
2297 |
|
BSL048 |
Basilicata-Akhtar Syndrome |
41 |
2298 |
|
FML366 |
Female-Restricted Syndromic X-Linked Intellectual Disability 99 |
40 |
2299 |
P
|
HYP111 |
Hyperprolinemia |
40 |
2300 |
c
|
MYS078 |
Myasthenic Syndrome, Congenital, 14 |
40 |
2301 |
c
|
MSC106 |
Mosaic Variegated Aneuploidy Syndrome 2 |
40 |
2302 |
|
VLT001 |
Vulto-Van Silfhout-De Vries Syndrome |
40 |
2303 |
P
|
SYN080 |
Syndromic X-Linked Intellectual Disability 34 |
40 |
2304 |
|
ENC038 |
Encephalopathy, Progressive, with or Without Lipodystrophy |
39 |
2305 |
c
|
NPH047 |
Nephrotic Syndrome, Type 4 |
39 |
2306 |
c
|
SPR061 |
Spermatogenic Failure 5 |
39 |
2307 |
c
|
INT533 |
Intellectual Developmental Disorder, Autosomal Dominant 13 |
39 |
2308 |
P
|
ADV001 |
Advanced Sleep Phase Syndrome |
39 |
2309 |
c
|
BRN140 |
Brain Small Vessel Disease 2 |
39 |
2310 |
c
|
SPR089 |
Spermatogenic Failure 4 |
38 |
2311 |
|
TRN012 |
Transient Global Amnesia |
38 |
2312 |
|
KLN009 |
Kleine-Levin Hibernation Syndrome |
38 |
2313 |
|
CMB091 |
Combined Oxidative Phosphorylation Deficiency 39 |
38 |
2314 |
c
|
MYS067 |
Myasthenic Syndrome, Congenital, 22 |
38 |
2315 |
P
|
INT454 |
Intellectual Developmental Disorder, Autosomal Dominant 55, with Seizures |
38 |
2316 |
c
|
CFF007 |
Coffin-Siris Syndrome 2 |
38 |
2317 |
c
|
CFF010 |
Coffin-Siris Syndrome 3 |
38 |
2318 |
c
|
NPH108 |
Nephrotic Syndrome, Type 20 |
37 |
2319 |
P
|
SPR062 |
Spermatogenic Failure |
37 |
2320 |
c
|
SPR118 |
Spermatogenic Failure 1 |
36 |
2321 |
c
|
MYS070 |
Myasthenic Syndrome, Congenital, 19 |
36 |
2322 |
c
|
NPH074 |
Nephrotic Syndrome, Type 9 |
36 |
2323 |
|
CMB048 |
Combined Oxidative Phosphorylation Deficiency 15 |
35 |
2324 |
|
KLV001 |
Kluver-Bucy Syndrome |
35 |
2325 |
|
SYN177 |
Syndromic X-Linked Intellectual Disability Najm Type |
35 |
2326 |
|
GND017 |
Gand Syndrome |
35 |
2327 |
c
|
SPR111 |
Spermatogenic Failure 16 |
35 |
2328 |
|
MLS013 |
Miles-Carpenter Syndrome |
34 |
2329 |
c
|
MYS064 |
Myasthenic Syndrome, Congenital, 16 |
34 |
2330 |
c
|
BRN141 |
Brain Small Vessel Disease 3 |
34 |
2331 |
|
SYN175 |
Syndromic X-Linked Intellectual Disability Lubs Type |
34 |
2332 |
c
|
TRC099 |
Trichothiodystrophy 2, Photosensitive |
34 |
2333 |
c
|
SPR082 |
Spermatogenic Failure 10 |
34 |
2334 |
c
|
SPR088 |
Spermatogenic Failure 7 |
33 |
2335 |
c
|
SPR042 |
Spermatogenic Failure 8 |
33 |
2336 |
c
|
MYS077 |
Myasthenic Syndrome, Congenital, 15 |
33 |
2337 |
c
|
SPR113 |
Spermatogenic Failure 18 |
33 |
2338 |
c
|
MCR254 |
Microcephaly 4, Primary, Autosomal Recessive |
33 |
2339 |
c
|
CFF014 |
Coffin-Siris Syndrome 9 |
33 |
2340 |
c
|
INT342 |
Intellectual Developmental Disorder, X-Linked 108 |
32 |
2341 |
|
SYN092 |
Syndromic X-Linked Intellectual Disability Cabezas Type |
32 |
2342 |
|
SYN178 |
Syndromic X-Linked Intellectual Disability Claes-Jensen Type |
32 |
2343 |
c
|
NPH111 |
Nephrotic Syndrome, Type 21 |
31 |
2344 |
c
|
BRN149 |
Brain Small Vessel Disease 1 |
31 |
2345 |
|
MSC021 |
Mosaic Trisomy 9 |
31 |
2346 |
|
PRT110 |
Prieto Syndrome |
31 |
2347 |
c
|
INT555 |
Intellectual Developmental Disorder, Autosomal Dominant 46 |
30 |
2348 |
c
|
MYS065 |
Myasthenic Syndrome, Congenital, 18 |
30 |
2349 |
|
LNG113 |
Liang-Wang Syndrome |
30 |
2350 |
|
SYN090 |
Syndromic X-Linked Intellectual Disability Turner Type |
30 |
2351 |
c
|
SPR084 |
Spermatogenic Failure 2 |
30 |
2352 |
c
|
INT472 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
29 |
2353 |
c
|
INT546 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
29 |
2354 |
|
ARM005 |
Armfield Syndrome |
29 |
2355 |
c
|
ATS526 |
Autosomal Dominant Intellectual Developmental Disorder 19 |
29 |
2356 |
c
|
INT521 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
29 |
2357 |
c
|
INT505 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
29 |
2358 |
c
|
CFF013 |
Coffin-Siris Syndrome 8 |
29 |
2359 |
P
|
BRN150 |
Brain Small Vessel Disease |
28 |
2360 |
|
CHR712 |
Chromosome 20q11-Q12 Deletion Syndrome |
28 |
2361 |
c
|
PLY181 |
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 |
28 |
2362 |
c
|
RNG005 |
Ring Chromosome 10 |
28 |
2363 |
|
CRB204 |
Cerebellar, Ocular, Craniofacial, and Genital Syndrome |
28 |
2364 |
c
|
INT560 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
28 |
2365 |
c
|
INT554 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
28 |
2366 |
c
|
SPR086 |
Spermatogenic Failure 3 |
27 |
2367 |
c
|
NPH103 |
Nephrotic Syndrome, Type 15 |
27 |
2368 |
c
|
SPR095 |
Spermatogenic Failure 14 |
27 |
2369 |
c
|
MYS056 |
Myasthenic Syndrome, Congenital, 17 |
27 |
2370 |
c
|
INT475 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
27 |
2371 |
c
|
NPH114 |
Nephrotic Syndrome, Type 22 |
27 |
2372 |
|
SNJ003 |
Snijders Blok-Fisher Syndrome |
27 |
2373 |
|
CRN042 |
Carnosinemia |
27 |
2374 |
c
|
INT535 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
27 |
2375 |
|
JBR046 |
Jaberi-Elahi Syndrome |
27 |
2376 |
|
STN014 |
Stankiewicz-Isidor Syndrome |
26 |
2377 |
c
|
ATS523 |
Autosomal Recessive Intellectual Developmental Disorder |
26 |
2378 |
c
|
NPH073 |
Nephrotic Syndrome, Type 8 |
26 |
2379 |
c
|
INT558 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
26 |
2380 |
c
|
INT515 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
26 |
2381 |
c
|
NPH095 |
Nephrotic Syndrome, Type 11 |
26 |
2382 |
c
|
NNS087 |
Non-Syndromic X-Linked Intellectual Disability 93 |
25 |
2383 |
c
|
SPR116 |
Spermatogenic Failure 15 |
25 |
2384 |
c
|
INT544 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
25 |
2385 |
c
|
SPR131 |
Spermatogenic Failure 28 |
25 |
2386 |
c
|
INT567 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
25 |
2387 |
c
|
INT508 |
Intellectual Developmental Disorder, Autosomal Recessive 7 |
25 |
2388 |
|
INT402 |
Intellectual Developmental Disorder, Autosomal Dominant 50, with Behavioral Abnormalities |
25 |
2389 |
c
|
INT348 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
24 |
2390 |
c
|
NPH070 |
Nephrotic Syndrome, Type 6 |
24 |
2391 |
c
|
SPR128 |
Spermatogenic Failure 25 |
24 |
2392 |
|
SYN176 |
Syndromic X-Linked Intellectual Disability Hedera Type |
24 |
2393 |
c
|
INT479 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
24 |
2394 |
|
KLQ001 |
Kilquist Syndrome |
24 |
2395 |
c
|
NPH106 |
Nephrotic Syndrome, Type 18 |
24 |
2396 |
|
MNT196 |
Mental Retardation, X-Linked 92 |
24 |
2397 |
c
|
SPR127 |
Spermatogenic Failure 24 |
24 |
2398 |
c
|
RNG015 |
Ring Chromosome 2 |
23 |
2399 |
c
|
INT335 |
Intellectual Developmental Disorder, Autosomal Recessive 67 |
23 |
2400 |
c
|
SPR110 |
Spermatogenic Failure 17 |
23 |
2401 |
c
|
RNG019 |
Ring Chromosome 3 |
23 |
2402 |
c
|
INT484 |
Intellectual Developmental Disorder, Autosomal Recessive 1 |
23 |
2403 |
c
|
SPR112 |
Spermatogenic Failure 21 |
23 |
2404 |
c
|
SPR149 |
Spermatogenic Failure 39 |
23 |
2405 |
|
LSS043 |
Lessel-Kreienkamp Syndrome |
23 |
2406 |
|
DVL019 |
Developmental Delay and Seizures with or Without Movement Abnormalities |
23 |
2407 |
c
|
SPR081 |
Spermatogenic Failure 11 |
22 |
2408 |
c
|
SPR125 |
Spermatogenic Failure 23 |
22 |
2409 |
|
ANT065 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis |
22 |
2410 |
c
|
SPR158 |
Spermatogenic Failure 46 |
22 |
2411 |
|
NRD025 |
Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations |
22 |
2412 |
|
PGN002 |
Paganini-Miozzo Syndrome |
22 |
2413 |
c
|
SPR115 |
Spermatogenic Failure 19 |
22 |
2414 |
c
|
NRC017 |
Narcolepsy 7 |
22 |
2415 |
c
|
SPR141 |
Spermatogenic Failure 36 |
22 |
2416 |
|
MTB009 |
Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression |
22 |
2417 |
c
|
SPR150 |
Spermatogenic Failure 40 |
22 |
2418 |
|
SZR029 |
Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications |
22 |
2419 |
c
|
NNS083 |
Non-Syndromic X-Linked Intellectual Disability 1 |
22 |
2420 |
c
|
SPR153 |
Spermatogenic Failure 43 |
22 |
2421 |
c
|
SPR114 |
Spermatogenic Failure 20 |
21 |
2422 |
|
LCM001 |
Li-Campeau Syndrome |
21 |
2423 |
c
|
NNS089 |
Non-Syndromic X-Linked Intellectual Disability 30 |
21 |
2424 |
c
|
SPR143 |
Spermatogenic Failure 38 |
21 |
2425 |
c
|
SPR173 |
Spermatogenic Failure 57 |
21 |
2426 |
c
|
SPR191 |
Spermatogenic Failure 74 |
21 |
2427 |
c
|
SPR176 |
Spermatogenic Failure 61 |
21 |
2428 |
c
|
SPR140 |
Spermatogenic Failure 35 |
21 |
2429 |
c
|
SPR152 |
Spermatogenic Failure 42 |
21 |
2430 |
c
|
NPH104 |
Nephrotic Syndrome, Type 16 |
21 |
2431 |
c
|
INT579 |
Intellectual Developmental Disorder, Autosomal Recessive 77 |
21 |
2432 |
|
CHR159 |
Charlie M Syndrome |
20 |
2433 |
|
MTC223 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
20 |
2434 |
|
VLN001 |
Valinemia |
20 |
2435 |
c
|
SPR137 |
Spermatogenic Failure 34 |
20 |
2436 |
|
PCH004 |
Pachygyria, Frontotemporal |
20 |
2437 |
c
|
SYN170 |
Syndromic X-Linked Intellectual Disability 94 |
20 |
2438 |
c
|
SPR172 |
Spermatogenic Failure 56 |
20 |
2439 |
c
|
SPR134 |
Spermatogenic Failure 31 |
20 |
2440 |
c
|
SPR160 |
Spermatogenic Failure 48 |
20 |
2441 |
c
|
SPR136 |
Spermatogenic Failure 33 |
20 |
2442 |
c
|
SPR157 |
Spermatogenic Failure 45 |
20 |
2443 |
c
|
SPR181 |
Spermatogenic Failure 65 |
20 |
2444 |
|
CNG108 |
Congenital Mitral Stenosis |
20 |
2445 |
c
|
SPR087 |
Spermatogenic Failure 12 |
20 |
2446 |
c
|
TRC128 |
Trichothiodystrophy 9, Nonphotosensitive |
19 |
2447 |
c
|
SPR142 |
Spermatogenic Failure 37 |
19 |
2448 |
c
|
SPR161 |
Spermatogenic Failure 49 |
19 |
2449 |
c
|
SPR180 |
Spermatogenic Failure 64 |
19 |
2450 |
c
|
NNS093 |
Non-Syndromic X-Linked Intellectual Disability 41 |
19 |
2451 |
c
|
NPH119 |
Nephrotic Syndrome, Type 26 |
19 |
2452 |
c
|
SPR130 |
Spermatogenic Failure 27 |
19 |
2453 |
c
|
SPR133 |
Spermatogenic Failure 30 |
19 |
2454 |
c
|
SPR163 |
Spermatogenic Failure 51 |
18 |
2455 |
c
|
INT461 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
18 |
2456 |
c
|
SPR135 |
Spermatogenic Failure 32 |
18 |
2457 |
c
|
SPR159 |
Spermatogenic Failure 47 |
18 |
2458 |
c
|
SPR178 |
Spermatogenic Failure 60 |
18 |
2459 |
c
|
SPR167 |
Spermatogenic Failure 53 |
18 |
2460 |
c
|
SPR156 |
Spermatogenic Failure 44 |
18 |
2461 |
c
|
SPR188 |
Spermatogenic Failure 71 |
18 |
2462 |
|
HYD049 |
Hydrocephalus with Cerebellar Agenesis |
18 |
2463 |
c
|
INT509 |
Intellectual Developmental Disorder, Autosomal Recessive 9 |
18 |
2464 |
c
|
SPR132 |
Spermatogenic Failure 29 |
18 |
2465 |
c
|
SPR164 |
Spermatogenic Failure 52 |
18 |
2466 |
c
|
NRC011 |
Narcolepsy 3 |
18 |
2467 |
c
|
SPR096 |
Spermatogenic Failure 13 |
18 |
2468 |
c
|
SPR162 |
Spermatogenic Failure 50 |
18 |
2469 |
c
|
SPR151 |
Spermatogenic Failure 41 |
18 |
2470 |
c
|
SPR169 |
Spermatogenic Failure 54 |
18 |
2471 |
c
|
INT466 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
18 |
2472 |
c
|
HYD071 |
Hydrocephalus, Normal-Pressure, 1 |
18 |
2473 |
c
|
SPR189 |
Spermatogenic Failure 72 |
17 |
2474 |
c
|
SPR192 |
Spermatogenic Failure 75 |
17 |
2475 |
c
|
SPR190 |
Spermatogenic Failure 73 |
17 |
2476 |
|
11Q001 |
11q22.2q22.3 Microdeletion Syndrome |
17 |
2477 |
c
|
SPR175 |
Spermatogenic Failure 59 |
17 |
2478 |
c
|
SPR177 |
Spermatogenic Failure 62 |
17 |
2479 |
c
|
SPR129 |
Spermatogenic Failure 26 |
17 |
2480 |
c
|
CNG621 |
Congenital Myasthenic Syndrome 7 |
17 |
2481 |
c
|
SPR174 |
Spermatogenic Failure 58 |
17 |
2482 |
c
|
INT552 |
Intellectual Developmental Disorder, Autosomal Recessive 59 |
17 |
2483 |
c
|
SPR179 |
Spermatogenic Failure 63 |
17 |
2484 |
c
|
SPR124 |
Spermatogenic Failure 22 |
17 |
2485 |
c
|
INT527 |
Intellectual Developmental Disorder, Autosomal Recessive 30 |
16 |
2486 |
c
|
SPR186 |
Spermatogenic Failure 69 |
16 |
2487 |
c
|
SPR187 |
Spermatogenic Failure 70 |
16 |
2488 |
c
|
NNS116 |
Non-Syndromic X-Linked Intellectual Disability 103 |
16 |
2489 |
c
|
SPR185 |
Spermatogenic Failure 68 |
16 |
2490 |
c
|
SPR196 |
Spermatogenic Failure 77 |
16 |
2491 |
c
|
SPR183 |
Spermatogenic Failure 66 |
16 |
2492 |
c
|
SPR184 |
Spermatogenic Failure 67 |
15 |
2493 |
c
|
SPR170 |
Spermatogenic Failure 55 |
15 |
2494 |
c
|
NNS082 |
Non-Syndromic X-Linked Intellectual Disability 9 |
15 |
2495 |
c
|
ART152 |
Aortic Aneurysm, Familial Abdominal, 3 |
15 |
2496 |
c
|
INT529 |
Intellectual Developmental Disorder, Autosomal Recessive 23 |
15 |
2497 |
|
PCH017 |
Pachygyria-Intellectual Disability-Epilepsy Syndrome |
14 |
2498 |
c
|
SPR193 |
Spermatogenic Failure 76 |
14 |
2499 |
|
MCR046 |
Microcephaly Brain Defect Spasticity Hypernatremia |
14 |
2500 |
c
|
NRC012 |
Narcolepsy 4 |
14 |
2501 |
c
|
ART151 |
Aortic Aneurysm, Familial Abdominal, 2 |
13 |
2502 |
c
|
PNC070 |
Panic Disorder 2 |
13 |
2503 |
c
|
ART108 |
Aortic Aneurysm, Familial Abdominal, 4 |
13 |
2504 |
c
|
NRC018 |
Narcolepsy 6 |
13 |
2505 |
c
|
PNC068 |
Panic Disorder 3 |
13 |
2506 |
c
|
NRC013 |
|