Including: anxiety, mood, dementia, psychotic, mental, dissociative, personality, bipolar, paranoid
See other categories (disease lists)
# |
Family |
MCID |
Name |
MIFTS |
1 |
P
|
FRN044 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 |
62 |
2 |
|
AMY027 |
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 |
54 |
3 |
c
|
CRB176 |
Cerebral Amyloid Angiopathy, Itm2b-Related, 1 |
44 |
4 |
c
|
CRB172 |
Cerebral Amyloid Angiopathy, Cst3-Related |
61 |
5 |
c
|
CRB174 |
Cerebral Amyloid Angiopathy, Itm2b-Related, 2 |
39 |
6 |
P
|
HRD084 |
Hereditary Cerebral Amyloid Angiopathy |
32 |
7 |
|
MNT056 |
Mental Retardation, X-Linked, Syndromic, Nascimento Type |
29 |
8 |
|
KHL003 |
Kohlschutter-Tonz Syndrome |
65 |
9 |
|
MNT310 |
Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type |
38 |
10 |
|
GRS011 |
Gerstmann-Straussler Disease |
56 |
11 |
c
|
AMY107 |
Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia |
26 |
12 |
|
STC002 |
Stocco Dos Santos X-Linked Mental Retardation Syndrome |
25 |
13 |
|
KFR001 |
Kufor-Rakeb Syndrome |
60 |
14 |
|
CLB021 |
Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation |
36 |
15 |
|
XLN134 |
X-Linked Intellectual Disability, Siderius Type |
26 |
16 |
|
MNT300 |
Mental Retardation, X-Linked, with Panhypopituitarism |
22 |
17 |
|
DNT005 |
Dentatorubral-Pallidoluysian Atrophy |
54 |
18 |
c
|
FRN043 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 |
38 |
19 |
c
|
FRN045 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 |
37 |
20 |
c
|
FRN040 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 |
33 |
21 |
P
|
SPN202 |
Spinocerebellar Ataxia, X-Linked 1 |
32 |
22 |
c
|
SPN364 |
Spinocerebellar Ataxia, X-Linked 3 |
22 |
23 |
c
|
SPN203 |
Spinocerebellar Ataxia, X-Linked 5 |
20 |
24 |
c
|
SPN363 |
Spinocerebellar Ataxia, X-Linked 4 |
18 |
25 |
c
|
SPN403 |
Spinocerebellar Ataxia, X-Linked 2 |
16 |
26 |
c
|
INC031 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 |
32 |
27 |
c
|
AMY104 |
Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia |
26 |
28 |
c
|
MNT150 |
Mental Retardation, Autosomal Recessive 15 |
26 |
29 |
c
|
MNT321 |
Mental Retardation, Autosomal Recessive 37 |
25 |
30 |
|
INT369 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type |
24 |
31 |
|
FRN030 |
Frontotemporal Dementia with Parkinsonism-17 |
24 |
32 |
|
AMY102 |
Amyotrophic Lateral Sclerosis, Juvenile, with Dementia |
24 |
33 |
c
|
MNT151 |
Mental Retardation, Autosomal Recessive 18 |
20 |
34 |
c
|
MNT154 |
Mental Retardation, Autosomal Recessive 14 |
19 |
35 |
|
RTN207 |
Retinopathy, Pigmentary, and Mental Retardation |
19 |
36 |
c
|
CHM002 |
Chmp2b-Related Frontotemporal Dementia |
16 |
37 |
|
SMN008 |
Semantic Dementia |
47 |
38 |
P
|
AMY106 |
Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia |
43 |
39 |
|
BNS003 |
Binswanger's Disease |
42 |
40 |
c
|
MJR003 |
Major Affective Disorder 6 |
33 |
41 |
c
|
MJR006 |
Major Affective Disorder 5 |
33 |
42 |
|
HYP241 |
Hypermethioninemia Due to Adenosine Kinase Deficiency |
32 |
43 |
|
AMM001 |
Amme Complex |
31 |
44 |
c
|
MJR004 |
Major Affective Disorder 4 |
29 |
45 |
|
ALP089 |
Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality |
27 |
46 |
|
DMN012 |
Dementia - Subcortical |
21 |
47 |
|
MNT257 |
Mental Retardation, X-Linked, with Craniofacial Dysmorphism |
18 |
48 |
|
SCT004 |
Scott Bryant Graham Syndrome |
16 |
49 |
|
DPR016 |
Depression |
63 |
50 |
|
BRK002 |
Birk-Barel Syndrome |
41 |
51 |
|
DMN026 |
Dementia Pugilistica |
27 |
52 |
c
|
HYP442 |
Hyperphosphatasia with Mental Retardation Syndrome 2 |
26 |
53 |
|
SBN004 |
Sabinas Brittle Hair Syndrome |
18 |
54 |
P
|
INC029 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 |
47 |
55 |
c
|
INC015 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 |
37 |
56 |
c
|
MJR023 |
Major Affective Disorder 7 |
33 |
57 |
c
|
AMY105 |
Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia |
29 |
58 |
c
|
MNT145 |
Mental Retardation, Autosomal Recessive 5 |
29 |
59 |
|
OHD003 |
Ohdo Syndrome, X-Linked |
28 |
60 |
c
|
MNT213 |
Mental Retardation, Autosomal Recessive 40 |
27 |
61 |
c
|
MNT244 |
Mental Retardation, Autosomal Recessive 49 |
23 |
62 |
c
|
MNT227 |
Mental Retardation, Autosomal Recessive 46 |
22 |
63 |
c
|
MNT221 |
Mental Retardation, Autosomal Recessive 44 |
21 |
64 |
c
|
HYP830 |
Hypomagnesemia, Seizures, and Mental Retardation 1 |
20 |
65 |
|
GRN060 |
Grn-Related Frontotemporal Lobar Degeneration |
20 |
66 |
c
|
AMY099 |
Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia |
20 |
67 |
c
|
MNT225 |
Mental Retardation, Autosomal Recessive 47 |
19 |
68 |
c
|
MNT220 |
Mental Retardation, Autosomal Recessive 45 |
18 |
69 |
c
|
MNT243 |
Mental Retardation, Autosomal Recessive 50 |
18 |
70 |
c
|
MNT264 |
Mental Retardation, Autosomal Recessive 52 |
17 |
71 |
c
|
CRB193 |
Cerebral Amyloid Angiopathy, App-Related |
55 |
72 |
|
HYP134 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
52 |
73 |
c
|
MJR024 |
Major Affective Disorder 9 |
41 |
74 |
c
|
MJR022 |
Major Affective Disorder 8 |
38 |
75 |
c
|
ALP076 |
Alopecia-Mental Retardation Syndrome 1 |
21 |
76 |
c
|
AMY074 |
Amyotrophic Lateral Sclerosis Type 14 |
21 |
77 |
|
HLL013 |
Hall-Riggs Mental Retardation Syndrome |
18 |
78 |
|
MNT030 |
Mental Retardation Syndrome, Belgian Type |
18 |
79 |
|
LMB066 |
Limb Defects, Distal Transverse, with Mental Retardation and Spasticity |
18 |
80 |
|
MNT311 |
Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration |
16 |
81 |
|
PTR031 |
Pterygium Colli and Mental Retardation with Facial and Digital Anomalies |
16 |
82 |
P
|
MNT312 |
Mental Health Wellness 1 |
15 |
83 |
|
SPN347 |
Spondyloepiphyseal Dysplasia Tarda with Mental Retardation |
15 |
84 |
|
CTR173 |
Cataract, Ataxia, Short Stature, and Mental Retardation |
14 |
85 |
c
|
MJR021 |
Major Affective Disorder 3 |
14 |
86 |
c
|
MNT313 |
Mental Health Wellness 2 |
10 |
87 |
c
|
RBN021 |
Rubinstein-Taybi Syndrome 1 |
57 |
88 |
|
ADS004 |
Aids Dementia Complex |
40 |
89 |
|
PSD088 |
Pseudobulbar Affect |
36 |
90 |
|
FGS004 |
Fg Syndrome 4 |
26 |
91 |
|
SBC025 |
Subcortical Arteriosclerotic Encephalopathy |
20 |
92 |
|
MNT306 |
Mental Retardation, X-Linked, Syndromic, Houge Type |
18 |
93 |
P
|
ALP110 |
Alopecia-Mental Retardation Syndrome |
17 |
94 |
P
|
RBN007 |
Rubinstein Taybi Like Syndrome |
7 |
95 |
P
|
PRK057 |
Parkinson Disease, Late-Onset |
78 |
96 |
|
CLF027 |
Cleft Palate, Isolated |
64 |
97 |
c
|
PRK089 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
59 |
98 |
c
|
PRK086 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
51 |
99 |
c
|
PRK092 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
48 |
100 |
c
|
PRK071 |
Parkinson Disease 14, Autosomal Recessive |
48 |
101 |
c
|
PRK065 |
Parkinson Disease 20, Early-Onset |
44 |
102 |
c
|
PRK093 |
Parkinson Disease 8, Autosomal Dominant |
44 |
103 |
c
|
HRD173 |
Hereditary Late-Onset Parkinson Disease |
44 |
104 |
c
|
PRK052 |
Parkinson Disease 17 |
43 |
105 |
c
|
PRK090 |
Parkinson Disease 3, Autosomal Dominant |
40 |
106 |
c
|
PRK021 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
40 |
107 |
|
JWD001 |
Jawad Syndrome |
40 |
108 |
c
|
ERL056 |
Early-Onset Parkinson's Disease |
39 |
109 |
c
|
PRK091 |
Parkinson Disease 4, Autosomal Dominant |
39 |
110 |
c
|
PRK070 |
Parkinson Disease 21 |
37 |
111 |
c
|
PRK025 |
Parkinson Disease 10 |
33 |
112 |
P
|
INC033 |
Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2 |
30 |
113 |
c
|
PRK083 |
Parkinson Disease 22, Autosomal Dominant |
28 |
114 |
c
|
PRK098 |
Parkinson Disease 5, Autosomal Dominant |
28 |
115 |
c
|
INC035 |
Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 3 |
27 |
116 |
|
MNT118 |
Mental Retardation, Anterior Maxillary Protrusion, and Strabismus |
26 |
117 |
c
|
PRK100 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
26 |
118 |
c
|
MNT282 |
Mental Retardation, Autosomal Recessive 55 |
26 |
119 |
c
|
JVN058 |
Juvenile-Onset Parkinson's Disease |
25 |
120 |
c
|
PRK096 |
Parkinson Disease 13, Autosomal Dominant |
25 |
121 |
c
|
PRK094 |
Parkinson Disease 11, Autosomal Dominant |
25 |
122 |
c
|
PRK099 |
Parkinson Disease 18, Autosomal Dominant |
24 |
123 |
|
MCR378 |
Microangiopathy and Leukoencephalopathy, Pontine, Autosomal Dominant |
23 |
124 |
c
|
MNT285 |
Mental Retardation, Autosomal Recessive 58 |
21 |
125 |
|
DRM023 |
Dermoodontodysplasia |
21 |
126 |
P
|
INT336 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
20 |
127 |
c
|
PRK022 |
Parkinson Disease 12 |
20 |
128 |
c
|
MNT277 |
Mental Retardation, Autosomal Recessive 54 |
17 |
129 |
|
MNT331 |
Mental Retardation, Autosomal Dominant 55, with Seizures |
17 |
130 |
c
|
PRK058 |
Parkinson Disease 16 |
17 |
131 |
c
|
ALP109 |
Alopecia-Mental Retardation Syndrome 4 |
17 |
132 |
c
|
MNT281 |
Mental Retardation, Autosomal Recessive 59 |
17 |
133 |
c
|
MNT335 |
Mental Retardation, Autosomal Recessive 63 |
16 |
134 |
|
XLN132 |
X-Linked Intellectual Disability, Schimke Type |
13 |
135 |
c
|
VPS003 |
Vps35-Related Parkinson Disease |
10 |
136 |
|
MLP003 |
Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type |
10 |
137 |
|
PLT011 |
Pilotto Syndrome |
8 |
138 |
c
|
CRB175 |
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 |
70 |
139 |
P
|
DMN002 |
Dementia |
66 |
140 |
P
|
MRN003 |
Marinesco-Sjogren Syndrome |
54 |
141 |
|
SCH071 |
Schaaf-Yang Syndrome |
54 |
142 |
P
|
OLV001 |
Olivopontocerebellar Atrophy |
51 |
143 |
c
|
KLF004 |
Kleefstra Syndrome 1 |
50 |
144 |
c
|
AMY045 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
48 |
145 |
c
|
BRD015 |
Bardet-Biedl Syndrome 3 |
48 |
146 |
c
|
TYR013 |
Tyrosinemia, Type Ii |
47 |
147 |
P
|
KLF001 |
Kleefstra Syndrome |
47 |
148 |
P
|
PLL002 |
Pellagra |
46 |
149 |
|
WDM004 |
Wiedemann-Steiner Syndrome |
45 |
150 |
c
|
AMY090 |
Amyotrophic Lateral Sclerosis 8 |
43 |
151 |
c
|
AMY058 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
42 |
152 |
|
OLV002 |
Oliver Syndrome |
42 |
153 |
c
|
AMY083 |
Amyotrophic Lateral Sclerosis 11 |
40 |
154 |
c
|
AMY057 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
38 |
155 |
P
|
CRB188 |
Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy |
38 |
156 |
c
|
AMY062 |
Amyotrophic Lateral Sclerosis 12 |
37 |
157 |
c
|
AMY055 |
Amyotrophic Lateral Sclerosis 17 |
36 |
158 |
P
|
JVN050 |
Juvenile Amyotrophic Lateral Sclerosis |
36 |
159 |
c
|
AMY088 |
Amyotrophic Lateral Sclerosis 3 |
36 |
160 |
c
|
AMY085 |
Amyotrophic Lateral Sclerosis 9 |
35 |
161 |
c
|
AMY059 |
Amyotrophic Lateral Sclerosis 19 |
34 |
162 |
c
|
CRB170 |
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 |
34 |
163 |
c
|
AMY067 |
Amyotrophic Lateral Sclerosis 18 |
33 |
164 |
c
|
KLF005 |
Kleefstra Syndrome 2 |
33 |
165 |
c
|
AMY063 |
Amyotrophic Lateral Sclerosis 20 |
32 |
166 |
c
|
AMY022 |
Amyotrophic Lateral Sclerosis Type 5 |
30 |
167 |
c
|
AMY023 |
Amyotrophic Lateral Sclerosis Type 6 |
29 |
168 |
c
|
AMY094 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
29 |
169 |
|
SPN368 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
27 |
170 |
c
|
AMY089 |
Amyotrophic Lateral Sclerosis 7 |
27 |
171 |
|
RMN002 |
Ramon Syndrome |
26 |
172 |
|
CHR669 |
Chromosome 2p16.3 Deletion Syndrome |
26 |
173 |
c
|
AMY110 |
Amyotrophic Lateral Sclerosis 24 |
24 |
174 |
c
|
AMY079 |
Amyotrophic Lateral Sclerosis Type 15 |
24 |
175 |
|
MCD002 |
Mcdonough Syndrome |
23 |
176 |
P
|
ALP068 |
Alopecia-Intellectual Disability Syndrome |
22 |
177 |
c
|
AMY112 |
Amyotrophic Lateral Sclerosis 25 |
21 |
178 |
c
|
AMY108 |
Amyotrophic Lateral Sclerosis 23 |
21 |
179 |
|
MNT253 |
Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis |
21 |
180 |
P
|
BMN004 |
Biemond Syndrome Ii |
21 |
181 |
|
CHR397 |
Chromosome Xp11.3 Deletion Syndrome |
20 |
182 |
|
INT371 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
20 |
183 |
|
MLT146 |
Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism |
20 |
184 |
|
OCL043 |
Oculorenocerebellar Syndrome |
20 |
186 |
|
FLL034 |
Fallot Complex with Severe Mental and Growth Retardation |
19 |
187 |
|
BRC121 |
Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation |
18 |
188 |
c
|
PLL014 |
Pellagra-Like Syndrome |
18 |
189 |
c
|
AMY109 |
Amyotrophic Lateral Sclerosis Type 22 |
18 |
190 |
c
|
MNT247 |
Mental Retardation, X-Linked 73 |
17 |
191 |
c
|
MNT204 |
Mental Retardation, X-Linked 23 |
17 |
192 |
|
EPL162 |
Epilepsy-Telangiectasia |
17 |
193 |
|
MNT255 |
Mental Retardation and Psoriasis |
17 |
194 |
|
OHD002 |
Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant |
16 |
195 |
c
|
MNT194 |
Mental Retardation, X-Linked 50 |
16 |
196 |
|
MNT315 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism |
16 |
197 |
|
DND020 |
Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy |
16 |
198 |
|
SHR089 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
16 |
199 |
c
|
MNT180 |
Mental Retardation, Autosomal Recessive 33 |
16 |
200 |
|
ALP067 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
16 |
201 |
c
|
MNT202 |
Mental Retardation, X-Linked 53 |
15 |
202 |
c
|
OLV005 |
Olivopontocerebellar Atrophy V |
15 |
203 |
|
INT361 |
Intellectual Developmental Disorder 60 with Seizures |
15 |
204 |
c
|
MNT167 |
Mental Retardation, Autosomal Recessive 16 |
15 |
205 |
c
|
MNT165 |
Mental Retardation, Autosomal Recessive 28 |
15 |
206 |
c
|
C9R002 |
C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia |
15 |
207 |
c
|
MNT182 |
Mental Retardation, Autosomal Recessive 19 |
15 |
208 |
|
GRN059 |
Grn Frontotemporal Dementia |
14 |
209 |
c
|
KLF002 |
Kleefstra Syndrome Due to a Point Mutation |
14 |
210 |
|
CRN103 |
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig |
14 |
211 |
|
ECT104 |
Ectodermal Dysplasia with Mental Retardation and Syndactyly |
14 |
212 |
c
|
MNT160 |
Mental Retardation, Autosomal Recessive 31 |
13 |
213 |
|
GRW038 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy |
13 |
214 |
c
|
MNT205 |
Mental Retardation, X-Linked 42 |
13 |
215 |
|
MTR081 |
Motor Neuron Disease with Dementia and Ophthalmoplegia |
13 |
216 |
|
MNT039 |
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block |
13 |
217 |
c
|
TRD001 |
Tardbp-Related Amyotrophic Lateral Sclerosis |
12 |
218 |
|
STR104 |
Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Facial Features |
12 |
219 |
|
DWR021 |
Dwarfism, Mental Retardation, and Eye Abnormality |
12 |
220 |
c
|
OLV006 |
Olivopontocerebellar Atrophy Ii, Autosomal Recessive |
12 |
221 |
|
HYP816 |
Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes |
12 |
222 |
|
PRS056 |
Presenile Dementia, Kraepelin Type |
11 |
223 |
|
ART149 |
Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies |
11 |
224 |
|
OHD001 |
Ohdo Syndrome, Maat-Kievit-Brunner Type |
11 |
225 |
|
CTR179 |
Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy |
11 |
226 |
|
FCL076 |
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation |
11 |
227 |
|
HRD179 |
Hair Defect-Photosensitivity-Intellectual Disability Syndrome |
10 |
228 |
c
|
RRD051 |
Rare Dementia |
10 |
229 |
|
MNT299 |
Mental and Growth Retardation with Amblyopia |
10 |
230 |
c
|
ALP081 |
Alopecia Intellectual Disability Syndrome 2 |
9 |
231 |
|
CTS047 |
Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation |
9 |
232 |
|
ATX043 |
Ataxia with Myoclonic Epilepsy and Presenile Dementia |
9 |
233 |
|
SPN397 |
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality |
9 |
234 |
|
DMN041 |
Dementia/parkinsonism with Non-Alzheimer Amyloid Plaques |
9 |
235 |
|
EPL197 |
Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation |
8 |
236 |
c
|
MRN006 |
Marinesco-Sjogren-Like Syndrome |
8 |
237 |
|
PSD115 |
Pseudouridinuria and Mental Defect |
8 |
238 |
|
KNR001 |
Koone Rizzo Elias Syndrome |
8 |
239 |
|
KRN006 |
Karandikar Maria Kamble Syndrome |
7 |
240 |
|
WLK002 |
Walker Dyson Syndrome |
7 |
241 |
P
|
ATX048 |
Ataxia with Dementia |
7 |
242 |
|
ZRR001 |
Zerres Rietschel Majewski Syndrome |
7 |
243 |
|
CTS013 |
Cutis Verticis Gyrata Mental Deficiency |
6 |
244 |
|
DKR001 |
Duker Weiss Siber Syndrome |
6 |
245 |
|
SPS183 |
Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome |
6 |
246 |
|
FBR095 |
Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation |
6 |
247 |
|
SHR110 |
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting |
6 |
248 |
|
CNT053 |
Cantu Sanchez-Corona Fragoso Syndrome |
5 |
249 |
|
CRT027 |
Cartwright Nelson Fryns Syndrome |
5 |
250 |
|
FNG007 |
Feingold Trainer Syndrome |
5 |
251 |
|
HRD065 |
Hordnes Engebretsen Knudtson Syndrome |
5 |
252 |
|
SMM001 |
Sammartino Decreccio Syndrome |
5 |
253 |
|
MCR344 |
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation |
5 |
254 |
|
INT089 |
Intellectual Deficit - Short Stature - Hypertelorism |
5 |
255 |
|
PTR009 |
Pterygium Colli Mental Retardation Digital Anomalies |
5 |
256 |
|
FRN054 |
Frontotemporal Degeneration with Dementia |
5 |
257 |
|
KZN001 |
Kuzniecky Andermann Syndrome |
4 |
258 |
|
GNT105 |
Genetic Dementia |
4 |
259 |
|
KTS001 |
Katsantoni Papadakou Lagoyanni Syndrome |
4 |
260 |
c
|
INF189 |
Infectious Disease with Dementia |
3 |
261 |
c
|
BMN003 |
Biemond Syndrome Type 1 |
3 |
262 |
|
CNG099 |
Congenital Heart Disease Radio Ulnar Synostosis Mental Retardation |
3 |
263 |
|
PRT057 |
Proteus Like Syndrome Mental Retardation Eye Defect |
3 |
264 |
c
|
LTN027 |
Late-Onset Ataxia with Dementia |
3 |
265 |
c
|
ERL061 |
Early-Onset Ataxia with Dementia |
3 |
266 |
|
CRB214 |
Cerebral Lipidosis with Dementia |
3 |
267 |
|
GNT109 |
Genetic Frontotemporal Degeneration with Dementia |
2 |
268 |
|
EPL007 |
Epilepsy Mental Deterioration Finnish Type |
2 |
269 |
P
|
ATS364 |
Autism |
70 |
270 |
|
TBC004 |
Tobacco Addiction |
64 |
271 |
P
|
PTT014 |
Pitt-Hopkins Syndrome |
63 |
272 |
c
|
PNS012 |
Paine Syndrome |
61 |
273 |
|
ETN001 |
Eating Disorder |
60 |
274 |
P
|
ALC033 |
Alcohol Use Disorder |
58 |
275 |
P
|
PRV006 |
Pervasive Developmental Disorder |
57 |
276 |
|
VSC002 |
Vascular Dementia |
57 |
277 |
|
GNR004 |
Generalized Anxiety Disorder |
56 |
278 |
|
SCH003 |
Schizophreniform Disorder |
56 |
279 |
P
|
SBS003 |
Substance Abuse |
55 |
280 |
|
END040 |
Endogenous Depression |
55 |
281 |
|
AMN003 |
Amnestic Disorder |
54 |
282 |
P
|
TCD001 |
Tic Disorder |
53 |
283 |
|
BRD004 |
Borderline Personality Disorder |
53 |
284 |
|
IMP005 |
Impotence |
52 |
285 |
|
PNG002 |
Pain Agnosia |
51 |
286 |
|
AVD001 |
Avoidant Personality Disorder |
51 |
287 |
|
CND002 |
Conduct Disorder |
51 |
288 |
|
PST021 |
Postpartum Depression |
50 |
289 |
|
OPT003 |
Opiate Dependence |
50 |
290 |
|
OPP004 |
Oppositional Defiant Disorder |
49 |
291 |
|
CCN002 |
Cocaine Abuse |
49 |
292 |
|
DYS009 |
Dysthymic Disorder |
49 |
293 |
c
|
PTT029 |
Pitt-Hopkins-Like Syndrome 1 |
49 |
294 |
|
PTH002 |
Pathological Gambling |
49 |
295 |
|
WTH001 |
Withdrawal Disorder |
48 |
296 |
|
CCN001 |
Cocaine Dependence |
48 |
297 |
|
SBS004 |
Substance Dependence |
48 |
298 |
|
SCL003 |
Social Phobia |
48 |
299 |
|
SXL003 |
Sexual Disorder |
47 |
300 |
|
DRG003 |
Drug Dependence |
47 |
301 |
|
ACT084 |
Acute Stress Disorder |
47 |
302 |
|
SPC010 |
Speech and Communication Disorders |
47 |
303 |
|
ANT011 |
Antisocial Personality Disorder |
47 |
304 |
|
SMT001 |
Somatization Disorder |
46 |
305 |
|
MTS001 |
Mutism |
46 |
306 |
|
DLY008 |
Delayed Sleep Phase Disorder |
46 |
307 |
c
|
SCH079 |
Schizophrenia 1 |
46 |
308 |
|
OPD001 |
Opioid Abuse |
46 |
309 |
|
RMS001 |
Rem Sleep Behavior Disorder |
46 |
310 |
|
ATY001 |
Atypical Depressive Disorder |
45 |
311 |
c
|
CNT015 |
Central Sleep Apnea |
45 |
312 |
|
XGB001 |
Xia-Gibbs Syndrome |
45 |
313 |
|
IMP006 |
Impulse Control Disorder |
45 |
314 |
c
|
RHZ014 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
45 |
315 |
|
AGR002 |
Agoraphobia |
45 |
316 |
|
RTR001 |
Retrograde Amnesia |
44 |
317 |
P
|
CHR345 |
Chronic Pain |
44 |
318 |
|
SBC016 |
Subacute Delirium |
44 |
319 |
c
|
ERL020 |
Early-Onset Schizophrenia |
44 |
320 |
|
CNN002 |
Cannabis Abuse |
44 |
321 |
|
PRM003 |
Premature Ejaculation |
44 |
322 |
|
HRN003 |
Heroin Dependence |
44 |
323 |
|
SPC005 |
Speech Disorder |
43 |
324 |
c
|
WRB004 |
Warburg Micro Syndrome 3 |
43 |
325 |
c
|
PNT049 |
Pontocerebellar Hypoplasia, Type 2d |
43 |
326 |
c
|
CHR056 |
Chronic Tic Disorder |
43 |
327 |
c
|
RHZ004 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
42 |
328 |
c
|
SCK015 |
Seckel Syndrome 2 |
41 |
329 |
|
PHB001 |
Phobic Disorder |
41 |
330 |
P
|
SYN057 |
Syndromic Intellectual Disability |
41 |
331 |
|
INT025 |
Intermittent Explosive Disorder |
41 |
332 |
|
PHB003 |
Phobia, Specific |
41 |
333 |
|
NNT008 |
Neonatal Abstinence Syndrome |
41 |
334 |
|
MRP001 |
Morphine Dependence |
41 |
335 |
|
RDN001 |
Reading Disorder |
40 |
336 |
|
GND002 |
Gender Identity Disorder |
40 |
337 |
|
CYC005 |
Cyclothymic Disorder |
40 |
338 |
c
|
PTT030 |
Pitt-Hopkins-Like Syndrome 2 |
40 |
339 |
|
HYP030 |
Hypoactive Sexual Desire Disorder |
40 |
340 |
|
SCH011 |
Schizotypal Personality Disorder |
40 |
341 |
|
ADJ001 |
Adjustment Disorder |
40 |
342 |
|
CNN001 |
Cannabis Dependence |
40 |
343 |
|
ALX001 |
Alexia |
39 |
344 |
c
|
BRD021 |
Bardet-Biedl Syndrome 9 |
39 |
345 |
|
DSS010 |
Dissociative Disorder |
39 |
346 |
c
|
SCK011 |
Seckel Syndrome 5 |
39 |
347 |
|
TRN007 |
Transsexualism |
39 |
348 |
|
ANT019 |
Anterograde Amnesia |
38 |
349 |
|
ALX002 |
Alexithymia |
38 |
350 |
|
MLN003 |
Melancholia |
38 |
351 |
|
SPR012 |
Separation Anxiety Disorder |
38 |
352 |
|
NMN001 |
Nominal Aphasia |
38 |
353 |
|
KLP001 |
Kleptomania |
38 |
354 |
c
|
SCK010 |
Seckel Syndrome 4 |
37 |
355 |
|
AMP007 |
Amphetamine Abuse |
37 |
356 |
c
|
SPL033 |
Split-Hand/foot Malformation 6 |
37 |
357 |
c
|
PTT042 |
Pitt-Hopkins-Like Syndrome |
35 |
358 |
|
ART014 |
Articulation Disorder |
35 |
359 |
|
DYS004 |
Dyscalculia |
34 |
360 |
|
DVL001 |
Developmental Coordination Disorder |
34 |
361 |
|
STR015 |
Stereotypic Movement Disorder |
34 |
362 |
|
AGR018 |
Agraphia |
34 |
363 |
|
ECH002 |
Echolalia |
34 |
364 |
P
|
SPC019 |
Specific Language Impairment |
33 |
365 |
|
PSY003 |
Psychosexual Disorder |
33 |
366 |
c
|
SCH083 |
Schizophrenia 7 |
33 |
367 |
|
DRG001 |
Drug Psychosis |
33 |
368 |
|
PRD002 |
Periodic Limb Movement Disorder |
33 |
369 |
|
IDM001 |
Ideomotor Apraxia |
32 |
370 |
c
|
SCH045 |
Schizophrenia 12 |
32 |
371 |
P
|
NNS031 |
Non-Syndromic Intellectual Disability |
32 |
372 |
|
GTP001 |
Gait Apraxia |
31 |
373 |
c
|
SCH081 |
Schizophrenia 6 |
31 |
374 |
|
SBS005 |
Substance-Induced Psychosis |
31 |
375 |
|
SPC003 |
Specific Developmental Disorder |
31 |
376 |
|
ATY003 |
Atypical Autism |
31 |
377 |
c
|
SCH064 |
Schizophrenia 10 |
31 |
378 |
c
|
ALC016 |
Alcohol Sensitivity, Acute |
31 |
379 |
|
FCT008 |
Factitious Disorder |
31 |
380 |
c
|
MLT010 |
Multiple Personality Disorder |
30 |
381 |
|
NRC003 |
Narcissistic Personality Disorder |
30 |
382 |
|
PDP001 |
Pedophilia |
30 |
383 |
|
DPN001 |
Dependent Personality Disorder |
30 |
384 |
|
PYR003 |
Pyromania |
30 |
385 |
c
|
SCK033 |
Seckel Syndrome 8 |
30 |
386 |
|
HST001 |
Histrionic Personality Disorder |
30 |
387 |
|
ANS006 |
Anosognosia |
30 |
388 |
c
|
CNT068 |
Central Pain Syndrome |
29 |
389 |
|
MNC002 |
Munchausen by Proxy |
29 |
390 |
|
DSS002 |
Dissociative Amnesia |
29 |
391 |
|
SCH004 |
Schizoid Personality Disorder |
28 |
392 |
|
ALC003 |
Alcoholic Psychosis |
28 |
393 |
c
|
SCH052 |
Schizophrenia 14 |
28 |
394 |
|
PRP015 |
Paraphilia Disorder |
27 |
395 |
|
BRB003 |
Barbiturate Abuse |
27 |
396 |
c
|
ATS370 |
Autism 3 |
27 |
397 |
|
BRB002 |
Barbiturate Dependence |
27 |
398 |
c
|
ATS371 |
Autism 6 |
25 |
399 |
|
AMS001 |
Amusia |
25 |
400 |
|
FTS001 |
Fetishism |
25 |
401 |
|
CPG001 |
Capgras Syndrome |
24 |
402 |
|
PHN001 |
Phencyclidine Abuse |
24 |
403 |
|
EXH001 |
Exhibitionism |
24 |
404 |
|
WRT002 |
Writing Disorder |
24 |
405 |
c
|
ATS376 |
Autism 15 |
24 |
406 |
|
TRN006 |
Transvestism |
24 |
407 |
|
ANM002 |
Animal Phobia |
24 |
408 |
c
|
ATS365 |
Autism X-Linked 1 |
24 |
409 |
|
EXP001 |
Expressive Language Disorder |
23 |
410 |
|
ADS003 |
Aids Phobia |
23 |
411 |
|
HLL005 |
Hallucinogen Dependence |
23 |
412 |
|
MXD044 |
Mixed Sleep Apnea |
23 |
413 |
c
|
ATS369 |
Autism 8 |
22 |
414 |
c
|
ATS378 |
Autism 17 |
22 |
415 |
|
NSP004 |
Nosophobia |
22 |
416 |
|
SXL001 |
Sexual Sadism |
22 |
417 |
|
SXL002 |
Sexual Masochism |
22 |
418 |
|
VYR001 |
Voyeurism |
21 |
419 |
c
|
ATS474 |
Autism 20 |
21 |
420 |
|
ASS001 |
Associative Agnosia |
21 |
421 |
c
|
FRM002 |
Form Agnosia |
21 |
422 |
|
INT031 |
Integrative Agnosia |
21 |
423 |
|
VRB001 |
Verbal Auditory Agnosia |
20 |
424 |
|
FNG001 |
Finger Agnosia |
20 |
425 |
|
CLT002 |
Cluttering |
19 |
426 |
c
|
ATS372 |
Autism 7 |
19 |
427 |
c
|
SPC027 |
Specific Language Impairment 1 |
19 |
428 |
|
BST003 |
Bestiality |
18 |
429 |
c
|
ATS170 |
Autism 19 |
18 |
430 |
c
|
ATS172 |
Autism 10 |
18 |
431 |
c
|
ATS171 |
Autism 9 |
18 |
432 |
c
|
SPC023 |
Specific Language Impairment 5 |
18 |
433 |
|
APP006 |
Apperceptive Agnosia |
17 |
434 |
|
ATT001 |
Autotopagnosia |
17 |
435 |
c
|
SYN082 |
Syndromic X-Linked Intellectual Disability 14 |
17 |
436 |
|
FLY001 |
Flying Phobia |
17 |
437 |
c
|
ATS374 |
Autism 12 |
17 |
438 |
c
|
TRN005 |
Transient Tic Disorder |
17 |
439 |
c
|
ATS375 |
Autism 13 |
16 |
440 |
|
AKN001 |
Akinetopsia |
16 |
441 |
|
MXD002 |
Mixed Receptive-Expressive Language Disorder |
16 |
442 |
c
|
ATS373 |
Autism 11 |
16 |
443 |
|
PHN002 |
Phonagnosia |
15 |
444 |
c
|
SPC028 |
Specific Language Impairment 2 |
14 |
445 |
|
MRR002 |
Mirror Agnosia |
13 |
446 |
|
HLL002 |
Hallucinogen Abuse |
13 |
447 |
|
CLR009 |
Color Agnosia |
12 |
448 |
c
|
SPC015 |
Specific Language Impairment 4 |
12 |
449 |
|
TPG001 |
Topographical Agnosia |
12 |
450 |
c
|
RRP002 |
Rare Pervasive Developmental Disorder |
11 |
451 |
c
|
SPC029 |
Specific Language Impairment 3 |
11 |
452 |
c
|
TSB001 |
T-Substance Anomaly |
10 |
453 |
c
|
SYN070 |
Syngap1-Related Non-Syndromic Intellectual Disability |
10 |
454 |
|
EGD001 |
Ego-Dystonic Sexual Orientation |
10 |
455 |
|
PSY001 |
Psychologic Vaginismus |
8 |
456 |
|
PSY002 |
Psychologic Dyspareunia |
6 |
457 |
|
SCL006 |
Social Emotional Agnosia |
5 |
458 |
|
TMG001 |
Time Agnosia |
5 |
459 |
|
SMN003 |
Semantic Agnosia |
4 |
460 |
|
ANT016 |
Antidepressant Type Abuse |
4 |
461 |
c
|
RRD010 |
Rare Disease with Autism |
4 |
462 |
c
|
RRS015 |
Rare Syndromic Intellectual Disability |
4 |
463 |
|
MNT304 |
Mental Retardation, X-Linked, with or Without Seizures, Arx-Related |
31 |
464 |
|
MNT303 |
Mental Retardation, X-Linked, Syndromic, Cabezas Type |
41 |
465 |
|
MSS001 |
Masa Syndrome |
62 |
466 |
P
|
CRB185 |
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 |
55 |
467 |
c
|
HYP553 |
Hyperphosphatasia with Mental Retardation Syndrome 3 |
24 |
468 |
P
|
ERL057 |
Early Infantile Epileptic Encephalopathy |
63 |
469 |
c
|
EPL097 |
Epileptic Encephalopathy, Early Infantile, 14 |
52 |
470 |
c
|
EPL037 |
Epileptic Encephalopathy, Early Infantile, 1 |
52 |
471 |
c
|
EPL025 |
Epileptic Encephalopathy, Early Infantile, 2 |
50 |
472 |
c
|
EPL068 |
Epileptic Encephalopathy, Early Infantile, 7 |
47 |
473 |
c
|
EPL029 |
Epileptic Encephalopathy, Early Infantile, 9 |
45 |
474 |
c
|
EPL082 |
Epileptic Encephalopathy, Early Infantile, 13 |
44 |
475 |
c
|
EPL026 |
Epileptic Encephalopathy, Early Infantile, 3 |
43 |
476 |
c
|
EPL119 |
Epileptic Encephalopathy, Early Infantile, 17 |
41 |
477 |
c
|
EPL024 |
Epileptic Encephalopathy, Early Infantile, 12 |
41 |
478 |
c
|
EPL027 |
Epileptic Encephalopathy, Early Infantile, 4 |
40 |
479 |
c
|
EPL185 |
Epileptic Encephalopathy, Early Infantile, 39 |
39 |
480 |
c
|
EPL195 |
Epileptic Encephalopathy, Early Infantile, 53 |
39 |
481 |
c
|
EPL123 |
Epileptic Encephalopathy, Early Infantile, 23 |
39 |
482 |
c
|
EPL023 |
Epileptic Encephalopathy, Early Infantile, 11 |
38 |
483 |
c
|
EPL153 |
Epileptic Encephalopathy, Early Infantile, 29 |
38 |
484 |
c
|
EPL117 |
Epileptic Encephalopathy, Early Infantile, 16 |
38 |
485 |
c
|
EPL028 |
Epileptic Encephalopathy, Early Infantile, 5 |
38 |
486 |
c
|
EPL169 |
Epileptic Encephalopathy, Early Infantile, 36 |
37 |
487 |
c
|
EPL130 |
Epileptic Encephalopathy, Early Infantile, 26 |
36 |
488 |
c
|
EPL159 |
Epileptic Encephalopathy, Early Infantile, 34 |
35 |
489 |
c
|
EPL183 |
Epileptic Encephalopathy, Early Infantile, 50 |
35 |
490 |
c
|
EPL099 |
Epileptic Encephalopathy, Early Infantile, 15 |
34 |
491 |
c
|
EPL125 |
Epileptic Encephalopathy, Early Infantile, 24 |
34 |
492 |
c
|
EPL156 |
Epileptic Encephalopathy, Early Infantile, 33 |
31 |
493 |
c
|
EPL241 |
Epileptic Encephalopathy, Early Infantile, 76 |
30 |
494 |
c
|
EPL139 |
Epileptic Encephalopathy, Early Infantile, 28 |
29 |
495 |
c
|
EPL135 |
Epileptic Encephalopathy, Early Infantile, 27 |
29 |
496 |
c
|
EPL193 |
Epileptic Encephalopathy, Early Infantile, 35 |
28 |
497 |
c
|
EPL172 |
Epileptic Encephalopathy, Early Infantile, 42 |
28 |
498 |
c
|
EPL181 |
Epileptic Encephalopathy, Early Infantile, 44 |
28 |
499 |
c
|
EPL151 |
Epileptic Encephalopathy, Early Infantile, 31 |
27 |
500 |
c
|
EPL194 |
Epileptic Encephalopathy, Early Infantile, 55 |
27 |
501 |
c
|
EPL173 |
Epileptic Encephalopathy, Early Infantile, 47 |
27 |
502 |
c
|
EPL240 |
Epileptic Encephalopathy, Early Infantile, 75 |
26 |
503 |
c
|
EPL127 |
Epileptic Encephalopathy, Early Infantile, 21 |
26 |
504 |
c
|
EPL157 |
Epileptic Encephalopathy, Early Infantile, 30 |
26 |
505 |
c
|
EPL178 |
Epileptic Encephalopathy, Early Infantile, 51 |
25 |
506 |
c
|
EPL102 |
Epileptic Encephalopathy, Early Infantile, 18 |
25 |
507 |
c
|
EPL223 |
Epileptic Encephalopathy, Early Infantile, 64 |
25 |
508 |
c
|
EPL182 |
Epileptic Encephalopathy, Early Infantile, 54 |
25 |
509 |
c
|
EPL146 |
Epileptic Encephalopathy, Early Infantile, 32 |
25 |
510 |
c
|
EPL233 |
Epileptic Encephalopathy, Early Infantile, 69 |
25 |
511 |
c
|
EPL191 |
Epileptic Encephalopathy, Early Infantile, 48 |
25 |
512 |
c
|
EPL179 |
Epileptic Encephalopathy, Early Infantile, 52 |
25 |
513 |
c
|
EPL190 |
Epileptic Encephalopathy, Early Infantile, 49 |
24 |
514 |
c
|
EPL211 |
Epileptic Encephalopathy, Early Infantile, 56 |
24 |
515 |
c
|
EPL224 |
Epileptic Encephalopathy, Early Infantile, 65 |
24 |
516 |
c
|
EPL238 |
Epileptic Encephalopathy, Early Infantile, 73 |
24 |
517 |
c
|
EPL234 |
Epileptic Encephalopathy, Early Infantile, 70 |
24 |
518 |
c
|
EPL252 |
Epileptic Encephalopathy, Early Infantile, 84 |
24 |
519 |
c
|
EPL229 |
Epileptic Encephalopathy, Early Infantile, 67 |
24 |
520 |
c
|
EPL175 |
Epileptic Encephalopathy, Early Infantile, 43 |
24 |
521 |
c
|
EPL246 |
Epileptic Encephalopathy, Early Infantile, 80 |
24 |
522 |
c
|
EPL126 |
Epileptic Encephalopathy, Early Infantile, 19 |
24 |
523 |
c
|
EPL180 |
Epileptic Encephalopathy, Early Infantile, 41 |
24 |
524 |
c
|
EPL232 |
Epileptic Encephalopathy, Early Infantile, 68 |
24 |
525 |
c
|
EPL176 |
Epileptic Encephalopathy, Early Infantile, 46 |
23 |
526 |
c
|
EPL221 |
Epileptic Encephalopathy, Early Infantile, 62 |
23 |
527 |
c
|
EPL249 |
Epileptic Encephalopathy, Early Infantile, 82 |
23 |
528 |
c
|
EPL222 |
Epileptic Encephalopathy, Early Infantile, 63 |
23 |
529 |
c
|
EPL243 |
Epileptic Encephalopathy, Early Infantile, 77 |
23 |
530 |
c
|
EPL216 |
Epileptic Encephalopathy, Early Infantile, 59 |
23 |
531 |
c
|
EPL250 |
Epileptic Encephalopathy, Early Infantile, 83 |
23 |
532 |
c
|
EPL171 |
Epileptic Encephalopathy, Early Infantile, 38 |
23 |
533 |
c
|
EPL235 |
Epileptic Encephalopathy, Early Infantile, 71 |
22 |
534 |
c
|
EPL239 |
Epileptic Encephalopathy, Early Infantile, 74 |
22 |
535 |
c
|
EPL174 |
Epileptic Encephalopathy, Early Infantile, 45 |
22 |
536 |
c
|
EPL248 |
Epileptic Encephalopathy, Early Infantile, 81 |
22 |
537 |
c
|
EPL218 |
Epileptic Encephalopathy, Early Infantile, 60 |
22 |
538 |
c
|
EPL226 |
Epileptic Encephalopathy, Early Infantile, 66 |
22 |
539 |
c
|
EPL237 |
Epileptic Encephalopathy, Early Infantile, 72 |
22 |
540 |
c
|
EPL219 |
Epileptic Encephalopathy, Early Infantile, 61 |
22 |
541 |
c
|
EPL215 |
Epileptic Encephalopathy, Early Infantile, 58 |
21 |
542 |
c
|
EPL244 |
Epileptic Encephalopathy, Early Infantile, 78 |
21 |
543 |
c
|
EPL213 |
Epileptic Encephalopathy, Early Infantile, 57 |
21 |
544 |
c
|
EPL177 |
Epileptic Encephalopathy, Early Infantile, 40 |
21 |
545 |
c
|
EPL245 |
Epileptic Encephalopathy, Early Infantile, 79 |
20 |
546 |
c
|
EPL255 |
Epileptic Encephalopathy, Early Infantile, 86 |
11 |
547 |
c
|
ARX003 |
Arx-Related Epileptic Encephalopathy |
5 |
548 |
c
|
MNT301 |
Mental Retardation, X-Linked 21 |
30 |
549 |
|
CRP034 |
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia |
22 |
550 |
|
CRB151 |
Cerebral Creatine Deficiency Syndrome 1 |
52 |
551 |
P
|
PLY180 |
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 |
56 |
552 |
c
|
MNT305 |
Mental Retardation, X-Linked 12 |
29 |
553 |
c
|
NRP054 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iii |
67 |
554 |
c
|
NRP053 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iia |
65 |
555 |
c
|
NRP037 |
Neuropathy, Hereditary Sensory and Autonomic, Type V |
56 |
556 |
c
|
NRP031 |
Neuropathy, Hereditary Sensory and Autonomic, Type Vii |
44 |
557 |
c
|
NRP033 |
Neuropathy, Hereditary Sensory and Autonomic, Type Ia |
44 |
558 |
c
|
NRP044 |
Neuropathy, Hereditary Sensory and Autonomic, Type Viii |
43 |
559 |
c
|
NRP040 |
Neuropathy, Hereditary Sensory and Autonomic, Type Ic |
42 |
560 |
c
|
HRD201 |
Hereditary Sensory and Autonomic Neuropathy Type 1 |
41 |
561 |
c
|
NRP038 |
Neuropathy, Hereditary Sensory and Autonomic, Type Vi |
40 |
562 |
c
|
NRP018 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iib |
39 |
563 |
|
RYN006 |
Raynaud-Claes Syndrome |
28 |
564 |
P
|
ATS271 |
Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy |
6 |
565 |
c
|
ATS273 |
Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy |
6 |
566 |
|
WCK001 |
Wieacker-Wolff Syndrome |
41 |
567 |
|
MTH079 |
Methylmalonic Acidemia and Homocysteinemia, Cblx Type |
30 |
568 |
|
RLN001 |
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked |
23 |
569 |
P
|
HYP441 |
Hyperphosphatasia with Mental Retardation Syndrome 1 |
42 |
570 |
c
|
MNT200 |
Mental Retardation, X-Linked 97 |
25 |
571 |
c
|
MNT155 |
Mental Retardation, Autosomal Recessive 2 |
24 |
572 |
c
|
MNT196 |
Mental Retardation, X-Linked 92 |
19 |
573 |
|
GLL028 |
Gillespie Syndrome |
53 |
574 |
P
|
HRD021 |
Hereditary Sensory Neuropathy |
48 |
575 |
c
|
NRP041 |
Neuropathy, Hereditary Sensory, Type Ie |
47 |
576 |
|
CRD075 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
43 |
577 |
|
CRB139 |
Cerebellar Ataxia, Nonprogressive, with Mental Retardation |
39 |
578 |
c
|
NRP029 |
Neuropathy, Hereditary Sensory, Type Iic |
36 |
579 |
c
|
NRP039 |
Neuropathy, Hereditary Sensory, Type Id |
34 |
580 |
|
WSM002 |
Waisman Syndrome |
32 |
581 |
c
|
NRP036 |
Neuropathy, Hereditary Sensory, Type if |
28 |
582 |
c
|
SPT021 |
Sptlc1-Related Hereditary Sensory Neuropathy |
15 |
583 |
|
EPL118 |
Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation |
65 |
584 |
|
MNT302 |
Mental Retardation, X-Linked, Syndromic, Christianson Type |
35 |
585 |
|
INT370 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
32 |
586 |
|
MNT307 |
Mental Retardation, X-Linked, Associated with Fragile Site Fraxe |
28 |
587 |
c
|
CRB195 |
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 |
23 |
588 |
|
OHD004 |
Ohdo Syndrome |
44 |
589 |
P
|
CTS001 |
Cutis Laxa |
65 |
590 |
c
|
CTS029 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
55 |
591 |
c
|
CTS045 |
Cutis Laxa, Autosomal Dominant 1 |
53 |
592 |
c
|
CTS033 |
Cutis Laxa, Autosomal Recessive, Type Ic |
51 |
593 |
c
|
CTS038 |
Cutis Laxa, Autosomal Recessive, Type Iia |
46 |
594 |
c
|
CTS030 |
Cutis Laxa, Autosomal Recessive, Type Ia |
45 |
595 |
c
|
ATS393 |
Autosomal Recessive Cutis Laxa Type I |
44 |
596 |
c
|
CTS037 |
Cutis Laxa, Autosomal Recessive, Type Ib |
43 |
597 |
c
|
CTS023 |
Cutis Laxa, Autosomal Recessive, Type Iib |
43 |
598 |
c
|
ATS392 |
Autosomal Recessive Cutis Laxa Type Iii |
38 |
599 |
c
|
CTS041 |
Cutis Laxa, Autosomal Dominant 3 |
38 |
600 |
c
|
CTS043 |
Cutis Laxa, Autosomal Recessive, Type Iid |
38 |
601 |
c
|
CTS032 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
37 |
602 |
c
|
CTS031 |
Cutis Laxa, Autosomal Dominant 2 |
30 |
603 |
c
|
MNT210 |
Mental Retardation, Autosomal Recessive 42 |
28 |
604 |
c
|
ACQ027 |
Acquired Cutis Laxa |
25 |
605 |
c
|
CTS044 |
Cutis Laxa, Autosomal Recessive, Type Iic |
25 |
606 |
c
|
LTB003 |
Ltbp4-Related Cutis Laxa |
24 |
607 |
c
|
ATS451 |
Autosomal Recessive Cutis Laxa Type 2 |
24 |
608 |
c
|
EFM001 |
Efemp2-Related Cutis Laxa |
23 |
609 |
|
MNT254 |
Mental Retardation Syndrome, Mietens-Weber Type |
22 |
610 |
c
|
ATP003 |
Atp6v0a2-Related Cutis Laxa |
20 |
611 |
c
|
FBL003 |
Fbln5-Related Cutis Laxa |
19 |
612 |
|
CHR639 |
Chromosome Xp11.22 Duplication Syndrome |
16 |
613 |
c
|
MNT295 |
Mental Retardation, X-Linked, Syndromic 33 |
28 |
614 |
c
|
CRB136 |
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 |
26 |
615 |
c
|
CRB141 |
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 |
23 |
616 |
P
|
ATS366 |
Autism X-Linked 2 |
42 |
617 |
|
VLT001 |
Vulto-Van Silfhout-De Vries Syndrome |
34 |
618 |
|
KHR001 |
Kahrizi Syndrome |
33 |
619 |
|
INT372 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
33 |
620 |
|
MNT320 |
Mental Retardation, Autosomal Dominant 6, with or Without Seizures |
30 |
621 |
|
NSC005 |
Nescav Syndrome |
29 |
622 |
|
ARB005 |
Arboleda-Tham Syndrome |
28 |
623 |
P
|
NRD034 |
Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant |
28 |
624 |
c
|
CFF014 |
Coffin-Siris Syndrome 9 |
24 |
625 |
c
|
GLY106 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
24 |
626 |
|
ALP091 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
23 |
627 |
c
|
NRD041 |
Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive |
22 |
628 |
P
|
CHR640 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
56 |
629 |
|
OPT054 |
Opitz-Kaveggia Syndrome |
54 |
630 |
c
|
SPS151 |
Spastic Paraplegia 11, Autosomal Recessive |
47 |
631 |
c
|
CHR408 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
43 |
632 |
c
|
XLN110 |
X-Linked Charcot-Marie-Tooth Disease |
42 |
633 |
|
MNT252 |
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy |
38 |
634 |
c
|
CHR641 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
34 |
635 |
c
|
CHR505 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
33 |
636 |
c
|
CHR642 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
30 |
637 |
|
NRD057 |
Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects |
29 |
638 |
|
ALP094 |
Alpha Thalassemia-Intellectual Disability Syndrome Type 1 |
25 |
639 |
c
|
CHR697 |
Charcot-Marie-Tooth Disease X-Linked Recessive 4 |
22 |
640 |
|
ABD008 |
Abidi X-Linked Mental Retardation Syndrome |
16 |
641 |
c
|
CHR630 |
Chorea, Benign Hereditary |
43 |
642 |
|
MGL011 |
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation |
31 |
643 |
P
|
MNT198 |
Mental Retardation, X-Linked 98 |
31 |
644 |
|
MNT266 |
Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects |
30 |
645 |
c
|
MNT270 |
Mental Retardation, Autosomal Recessive 53 |
28 |
646 |
c
|
HYP580 |
Hyperphosphatasia with Mental Retardation Syndrome 4 |
27 |
647 |
c
|
HYP697 |
Hyperphosphatasia with Mental Retardation Syndrome 6 |
25 |
648 |
|
MNT107 |
Mental Retardation, Fra12a Type |
20 |
649 |
P
|
CHR636 |
Chorea, Benign Familial |
13 |
650 |
P
|
HNT016 |
Huntington Disease |
72 |
651 |
P
|
PRN023 |
Prion Disease |
57 |
652 |
c
|
HNT010 |
Huntington Disease-Like 1 |
53 |
653 |
c
|
SPN311 |
Spinocerebellar Ataxia 13 |
50 |
654 |
c
|
HNT011 |
Huntington Disease-Like 3 |
38 |
655 |
|
TMP011 |
Temple-Baraitser Syndrome |
36 |
656 |
|
TNN015 |
Tonne-Kalscheuer Syndrome |
28 |
657 |
|
RNL120 |
Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation |
28 |
658 |
c
|
MNT183 |
Mental Retardation, Autosomal Recessive 36 |
28 |
659 |
|
INT373 |
Intellectual Developmental Disorder, Autosomal Dominant 44, with Microcephaly |
27 |
660 |
c
|
MNT166 |
Mental Retardation, Autosomal Recessive 39 |
27 |
661 |
c
|
MNT216 |
Mental Retardation, Autosomal Recessive 41 |
26 |
662 |
c
|
JVN015 |
Juvenile Huntington Disease |
26 |
663 |
c
|
MNT267 |
Mental Retardation, X-Linked 104 |
25 |
664 |
c
|
MNT176 |
Mental Retardation, Autosomal Recessive 38 |
24 |
665 |
c
|
INH032 |
Inherited Human Prion Disease |
24 |
666 |
c
|
MNT224 |
Mental Retardation, X-Linked 101 |
23 |
667 |
c
|
MNT218 |
Mental Retardation, X-Linked 99 |
23 |
668 |
c
|
MNT234 |
Mental Retardation, Autosomal Recessive 48 |
22 |
669 |
c
|
MNT287 |
Mental Retardation, Autosomal Recessive 57 |
22 |
670 |
c
|
MNT177 |
Mental Retardation, Autosomal Recessive 27 |
22 |
671 |
P
|
HYP834 |
Hypomagnesemia, Seizures, and Mental Retardation 2 |
22 |
672 |
c
|
MNT289 |
Mental Retardation, X-Linked 103 |
21 |
673 |
c
|
MNT223 |
Mental Retardation, X-Linked 100 |
20 |
674 |
|
MNT283 |
Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly |
20 |
675 |
c
|
MNT195 |
Mental Retardation, X-Linked 96 |
20 |
676 |
c
|
HNT013 |
Huntington Disease-Like Syndrome |
20 |
677 |
|
INT377 |
Intellectual Developmental Disorder, Autosomal Dominant 63, with Macrocephaly |
19 |
678 |
c
|
MNT274 |
Mental Retardation, X-Linked 105 |
19 |
679 |
c
|
MNT336 |
Mental Retardation, Autosomal Recessive 64 |
19 |
680 |
c
|
MNT333 |
Mental Retardation, X-Linked 107 |
19 |
681 |
c
|
MNT215 |
Mental Retardation, Autosomal Recessive 43 |
19 |
682 |
|
PCH018 |
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts |
17 |
683 |
c
|
HNT014 |
Huntington Disease-Like Syndrome Due to C9orf72 Expansions |
14 |
684 |
c
|
SPR154 |
Sporadic Human Prion Disease |
10 |
685 |
c
|
ACQ069 |
Acquired Human Prion Disease |
9 |
686 |
|
ACR008 |
Acrocallosal Syndrome |
69 |
687 |
|
PRR007 |
Perry Syndrome |
52 |
688 |
|
TMT002 |
Temtamy Preaxial Brachydactyly Syndrome |
50 |
689 |
c
|
SPN264 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
35 |
690 |
|
CKS001 |
Ck Syndrome |
33 |
691 |
P
|
GLY112 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
32 |
692 |
|
MGL033 |
Megalocornea-Mental Retardation Syndrome |
30 |
693 |
|
HYD054 |
Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation |
26 |
694 |
c
|
SPS092 |
Spastic Paraplegia 11 |
25 |
695 |
c
|
GLY103 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
25 |
696 |
|
MNT256 |
Mental Retardation, Buenos Aires Type |
25 |
697 |
c
|
GLY108 |
Glycosylphosphatidylinositol Biosynthesis Defect 18 |
24 |
698 |
|
MLP006 |
Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type |
21 |
699 |
|
RDL014 |
Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation |
21 |
700 |
c
|
GLY107 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
20 |
701 |
|
BLP044 |
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation |
20 |
702 |
|
EPL170 |
Epilepsy-Aphasia Spectrum |
20 |
703 |
c
|
GLY104 |
Glycosylphosphatidylinositol Biosynthesis Defect 16 |
20 |
704 |
|
RTN071 |
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism |
20 |
705 |
|
ICH068 |
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment |
18 |
706 |
|
GMS002 |
Gms Syndrome |
18 |
707 |
|
RDL026 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
18 |
708 |
|
SCH022 |
Schimke X-Linked Mental Retardation Syndrome |
16 |
709 |
|
ULN022 |
Ulnar Hypoplasia with Mental Retardation |
15 |
710 |
|
WLF012 |
Wolff Mental Retardation Syndrome |
15 |
711 |
|
SPS218 |
Spastic Diplegia and Mental Retardation |
15 |
712 |
|
DBT089 |
Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification |
14 |
713 |
|
KCN019 |
Kcnk9 Imprinting Syndrome |
13 |
714 |
|
CRN293 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
13 |
715 |
|
ULN019 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
12 |
716 |
|
STB003 |
Setbp1 Disorder |
12 |
717 |
|
AMY015 |
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation |
11 |
718 |
|
TRN026 |
Tranebjaerg Svejgaard Syndrome |
9 |
719 |
P
|
MCR010 |
Microcephaly |
59 |
720 |
|
ALX003 |
Alexander Disease |
59 |
721 |
|
BRN045 |
Brunner Syndrome |
55 |
722 |
|
DND001 |
Dandy-Walker Syndrome |
50 |
723 |
|
MRT007 |
Martsolf Syndrome |
49 |
724 |
c
|
PRM031 |
Primary Autosomal Recessive Microcephaly |
47 |
725 |
|
NCL006 |
Nicolaides-Baraitser Syndrome |
46 |
726 |
c
|
MCR247 |
Microcephaly 1, Primary, Autosomal Recessive |
45 |
727 |
c
|
MCR248 |
Microcephaly 3, Primary, Autosomal Recessive |
44 |
728 |
c
|
MCR250 |
Microcephaly 6, Primary, Autosomal Recessive |
42 |
729 |
c
|
PRM212 |
Primary Microcephaly |
42 |
730 |
c
|
MCR238 |
Microcephaly 7, Primary, Autosomal Recessive |
41 |
731 |
c
|
MCR320 |
Microcephaly 17, Primary, Autosomal Recessive |
41 |
732 |
|
ART103 |
Arthrogryposis, Mental Retardation, and Seizures |
40 |
733 |
|
TMT003 |
Temtamy Syndrome |
39 |
734 |
c
|
MCR243 |
Microcephaly 8, Primary, Autosomal Recessive |
37 |
735 |
c
|
MCR223 |
Microcephaly 10, Primary, Autosomal Recessive |
36 |
736 |
c
|
MCR246 |
Microcephaly 12, Primary, Autosomal Recessive |
34 |
737 |
c
|
MCR329 |
Microcephaly, Autosomal Dominant |
33 |
738 |
c
|
MCR269 |
Microcephaly 15, Primary, Autosomal Recessive |
33 |
739 |
c
|
MCR236 |
Microcephaly 13, Primary, Autosomal Recessive |
31 |
740 |
c
|
MCR249 |
Microcephaly 11, Primary, Autosomal Recessive |
31 |
741 |
|
CLF050 |
Cleft Palate, Cardiac Defects, and Mental Retardation |
31 |
742 |
c
|
MCR314 |
Microcephaly 16, Primary, Autosomal Recessive |
31 |
743 |
c
|
MCR270 |
Microcephaly 14, Primary, Autosomal Recessive |
30 |
744 |
|
EPL149 |
Epilepsy, Hearing Loss, and Mental Retardation Syndrome |
30 |
745 |
c
|
MCR322 |
Microcephaly 18, Primary, Autosomal Dominant |
30 |
746 |
|
MNT290 |
Mental Retardation, X-Linked 99, Syndromic, Female-Restricted |
29 |
747 |
c
|
MCR356 |
Microcephaly 19, Primary, Autosomal Recessive |
29 |
748 |
c
|
MSC099 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 |
26 |
749 |
c
|
MCR360 |
Microcephaly 20, Primary, Autosomal Recessive |
24 |
750 |
c
|
MCR362 |
Microcephaly 22, Primary, Autosomal Recessive |
20 |
751 |
|
SKL011 |
Skeletal Defects, Genital Hypoplasia, and Mental Retardation |
20 |
752 |
c
|
MCR372 |
Microcephaly 25, Primary, Autosomal Recessive |
19 |
753 |
c
|
MCR361 |
Microcephaly 21, Primary, Autosomal Recessive |
19 |
754 |
c
|
MCR368 |
Microcephaly 24, Primary, Autosomal Recessive |
19 |
755 |
c
|
MCR363 |
Microcephaly 23, Primary, Autosomal Recessive |
18 |
756 |
|
CHR593 |
Chromosome 16p13.3 Deletion Syndrome, Proximal |
66 |
757 |
c
|
NRD017 |
Neurodegeneration with Brain Iron Accumulation 1 |
61 |
758 |
c
|
SPN301 |
Spinocerebellar Ataxia 2 |
58 |
759 |
P
|
NRM002 |
Normal Pressure Hydrocephalus |
54 |
760 |
|
MYC080 |
Myoclonic Epilepsy of Unverricht and Lundborg |
52 |
761 |
c
|
SPN200 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
33 |
762 |
|
RCH010 |
Richieri-Costa/guion-Almeida Syndrome |
26 |
763 |
|
SFR001 |
Sifrim-Hitz-Weiss Syndrome |
26 |
764 |
c
|
MNT334 |
Mental Retardation, Autosomal Dominant 57 |
25 |
765 |
|
ICH043 |
Ichthyosis, Spastic Quadriplegia, and Mental Retardation |
25 |
766 |
|
MNT269 |
Mental Retardation, X-Linked, Syndromic, Bain Type |
25 |
767 |
c
|
MNT337 |
Mental Retardation, Autosomal Dominant 58 |
23 |
768 |
c
|
INC034 |
Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 1 |
22 |
769 |
c
|
MNT338 |
Mental Retardation, Autosomal Recessive 65 |
22 |
770 |
c
|
MNT339 |
Mental Retardation, Autosomal Recessive 66 |
21 |
771 |
c
|
HYD071 |
Hydrocephalus, Normal-Pressure, 1 |
20 |
772 |
c
|
INT367 |
Intellectual Developmental Disorder 61 |
20 |
773 |
c
|
INT375 |
Intellectual Developmental Disorder 62 |
20 |
774 |
|
MCR370 |
Macrocephaly, Acquired, with Impaired Intellectual Development |
19 |
775 |
c
|
MNT275 |
Mental Retardation, Autosomal Recessive 60 |
19 |
776 |
c
|
INT348 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
19 |
777 |
c
|
INT345 |
Intellectual Developmental Disorder, Autosomal Recessive 70 |
19 |
778 |
c
|
MNT263 |
Mental Retardation, Autosomal Recessive 51 |
18 |
779 |
c
|
INT344 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
17 |
780 |
c
|
ALP075 |
Alopecia-Mental Retardation Syndrome 2 |
17 |
781 |
c
|
INT349 |
Intellectual Developmental Disorder 59 |
17 |
782 |
c
|
INT364 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
16 |
783 |
c
|
MNT284 |
Mental Retardation, Autosomal Recessive 56 |
16 |
784 |
c
|
INT335 |
Intellectual Developmental Disorder, Autosomal Recessive 67 |
16 |
785 |
|
MNT028 |
Mental Retardation Smith Fineman Myers Type |
15 |
786 |
|
MST010 |
Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia |
6 |
787 |
|
ALD006 |
Aldred Syndrome |
6 |
788 |
P
|
MTC003 |
Metachromatic Leukodystrophy |
70 |
789 |
c
|
CNG411 |
Congenital Disorder of Glycosylation, Type in |
68 |
790 |
c
|
HRD010 |
Hereditary Spastic Paraplegia |
66 |
791 |
P
|
NRN021 |
Neuronal Ceroid Lipofuscinosis |
64 |
792 |
|
LKN001 |
Leukoencephalopathy with Vanishing White Matter |
59 |
793 |
P
|
SPN309 |
Spinocerebellar Ataxia 6 |
59 |
794 |
c
|
SPS128 |
Spastic Paraplegia 7, Autosomal Recessive |
57 |
795 |
c
|
SPS153 |
Spastic Paraplegia 35, Autosomal Recessive |
57 |
796 |
c
|
SPS222 |
Spastic Paraplegia 20, Autosomal Recessive |
56 |
797 |
c
|
MCR256 |
Microphthalmia, Syndromic 9 |
56 |
798 |
c
|
CNG415 |
Congenital Disorder of Glycosylation, Type Ia |
55 |
799 |
P
|
TRC102 |
Trichothiodystrophy 1, Photosensitive |
55 |
800 |
c
|
SPS147 |
Spastic Paraplegia 4, Autosomal Dominant |
55 |
801 |
c
|
SPN294 |
Spinocerebellar Ataxia 1 |
53 |
802 |
c
|
SPN291 |
Spinocerebellar Ataxia 7 |
52 |
803 |
c
|
CNG189 |
Congenital Disorder of Glycosylation, Type Ib |
52 |
804 |
c
|
CNG191 |
Congenital Disorder of Glycosylation, Type Iia |
51 |
805 |
c
|
NRD032 |
Neurodegeneration with Brain Iron Accumulation 5 |
51 |
806 |
c
|
CNG206 |
Congenital Disorder of Glycosylation, Type Ie |
51 |
807 |
c
|
SPN296 |
Spinocerebellar Ataxia 17 |
51 |
808 |
c
|
GNT049 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
50 |
809 |
|
WRN002 |
Wernicke-Korsakoff Syndrome |
50 |
810 |
c
|
SPN207 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
49 |
811 |
|
DBW001 |
Dubowitz Syndrome |
49 |
812 |
c
|
CNG389 |
Congenital Disorder of Glycosylation, Type Iim |
49 |
813 |
c
|
SPN106 |
Spinocerebellar Ataxia 5 |
49 |
814 |
c
|
SPS117 |
Spastic Paraplegia 10, Autosomal Dominant |
48 |
815 |
c
|
SPS127 |
Spastic Paraplegia 6, Autosomal Dominant |
47 |
816 |
c
|
SPN105 |
Spinocerebellar Ataxia 4 |
47 |
817 |
c
|
SPN312 |
Spinocerebellar Ataxia 14 |
47 |
818 |
|
CLB026 |
Colobomatous Microphthalmia |
47 |
819 |
c
|
SPS148 |
Spastic Paraplegia 31, Autosomal Dominant |
46 |
820 |
c
|
CNG203 |
Congenital Disorder of Glycosylation, Type Iii |
46 |
821 |
|
NRN008 |
Neuronal Intranuclear Inclusion Disease |
46 |
822 |
c
|
MCR261 |
Microphthalmia, Syndromic 2 |
46 |
823 |
c
|
SPS149 |
Spastic Paraplegia 8, Autosomal Dominant |
46 |
824 |
c
|
SPN293 |
Spinocerebellar Ataxia 12 |
45 |
825 |
c
|
SPN273 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
45 |
826 |
P
|
GNT009 |
Giant Axonal Neuropathy |
45 |
827 |
c
|
SPN097 |
Spinocerebellar Ataxia 23 |
45 |
828 |
c
|
CNG199 |
Congenital Disorder of Glycosylation, Type Im |
45 |
829 |
c
|
SPN314 |
Spinocerebellar Ataxia 10 |
45 |
830 |
c
|
CNG190 |
Congenital Disorder of Glycosylation, Type Iib |
45 |
831 |
c
|
SPN305 |
Spinocerebellar Ataxia 11 |
45 |
832 |
c
|
SPN308 |
Spinocerebellar Ataxia 28 |
45 |
833 |
c
|
CNG204 |
Congenital Disorder of Glycosylation, Type Iih |
44 |
834 |
c
|
CRD239 |
Ceroid Lipofuscinosis, Neuronal, 13 |
44 |
835 |
c
|
SPS158 |
Spastic Paraplegia 9a, Autosomal Dominant |
44 |
836 |
c
|
CNG414 |
Congenital Disorder of Glycosylation, Type Iil |
44 |
837 |
c
|
CNG209 |
Congenital Disorder of Glycosylation, Type Iif |
44 |
838 |
c
|
SPS108 |
Spastic Paraplegia 5a, Autosomal Recessive |
44 |
839 |
c
|
CNG383 |
Congenital Disorder of Glycosylation, Type Iik |
44 |
840 |
c
|
CNG201 |
Congenital Disorder of Glycosylation, Type Iij |
43 |
841 |
c
|
SPN261 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
43 |
842 |
c
|
SPS071 |
Spastic Paraplegia 48, Autosomal Recessive |
43 |
843 |
c
|
CNG198 |
Congenital Disorder of Glycosylation, Type Il |
43 |
844 |
c
|
MCR241 |
Microphthalmia, Syndromic 3 |
43 |
845 |
c
|
CNG185 |
Congenital Disorder of Glycosylation, Type Iig |
43 |
846 |
c
|
SPS126 |
Spastic Paraplegia 49, Autosomal Recessive |
43 |
847 |
c
|
SPS129 |
Spastic Paraplegia 39, Autosomal Recessive |
42 |
848 |
c
|
SPN295 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
42 |
849 |
c
|
SPN101 |
Spinocerebellar Ataxia 29 |
42 |
850 |
c
|
SPS219 |
Spastic Paraplegia 17, Autosomal Dominant |
42 |
851 |
c
|
CNG197 |
Congenital Disorder of Glycosylation, Type Ih |
42 |
852 |
c
|
SPS106 |
Spastic Paraplegia 54, Autosomal Recessive |
42 |
853 |
c
|
SPN265 |
Spinocerebellar Ataxia 36 |
42 |
854 |
c
|
SPN214 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
42 |
855 |
|
CHR662 |
Chromosome 15q13.3 Deletion Syndrome |
42 |
856 |
c
|
SPN100 |
Spinocerebellar Ataxia 27 |
41 |
857 |
c
|
CNG194 |
Congenital Disorder of Glycosylation, Type Ig |
41 |
858 |
c
|
SPS109 |
Spastic Paraplegia 46, Autosomal Recessive |
41 |
859 |
c
|
SPN304 |
Spinocerebellar Ataxia 8 |
41 |
860 |
c
|
SPN284 |
Spinocerebellar Ataxia 38 |
41 |
861 |
c
|
SPS107 |
Spastic Paraplegia 18, Autosomal Recessive |
41 |
862 |
c
|
SPN288 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
40 |
863 |
c
|
SPN096 |
Spinocerebellar Ataxia 21 |
40 |
864 |
c
|
SPN104 |
Spinocerebellar Ataxia 34 |
40 |
865 |
c
|
MCR263 |
Microphthalmia, Syndromic 1 |
40 |
866 |
c
|
SPN290 |
Spinocerebellar Ataxia 15 |
40 |
867 |
c
|
CNG498 |
Congenital Disorder of Glycosylation, Type Iin |
40 |
868 |
c
|
SPS131 |
Spastic Paraplegia 12, Autosomal Dominant |
40 |
869 |
|
MST006 |
Mast Syndrome |
40 |
870 |
c
|
SPS116 |
Spastic Paraplegia 26, Autosomal Recessive |
40 |
871 |
c
|
SPN201 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
40 |
872 |
c
|
SPS124 |
Spastic Paraplegia 28, Autosomal Recessive |
40 |
873 |
c
|
SPS137 |
Spastic Paraplegia 57, Autosomal Recessive |
40 |
874 |
c
|
CNG195 |
Congenital Disorder of Glycosylation, Type Id |
40 |
875 |
c
|
SPS152 |
Spastic Paraplegia 51, Autosomal Recessive |
40 |
876 |
c
|
SPS159 |
Spastic Paraplegia 9b, Autosomal Recessive |
40 |
877 |
c
|
SPS097 |
Spastic Paraplegia 13, Autosomal Dominant |
39 |
878 |
c
|
SPN266 |
Spinocerebellar Ataxia 35 |
39 |
879 |
c
|
CNG497 |
Congenital Disorder of Glycosylation, Type Iio |
39 |
880 |
c
|
SPS130 |
Spastic Paraplegia 43, Autosomal Recessive |
39 |
881 |
c
|
SPS213 |
Spastic Paraplegia 75, Autosomal Recessive |
39 |
882 |
c
|
SPN103 |
Spinocerebellar Ataxia 31 |
39 |
883 |
c
|
SPS099 |
Spastic Paraplegia 42, Autosomal Dominant |
38 |
884 |
|
SMT020 |
Smith-Kingsmore Syndrome |
38 |
885 |
c
|
SPS101 |
Spastic Paraplegia 56, Autosomal Recessive |
38 |
886 |
c
|
CNG187 |
Congenital Disorder of Glycosylation, Type Iid |
38 |
887 |
c
|
SPS104 |
Spastic Paraplegia 53, Autosomal Recessive |
38 |
888 |
c
|
SPS160 |
Spastic Paraplegia 73, Autosomal Dominant |
38 |
889 |
c
|
CNG196 |
Congenital Disorder of Glycosylation, Type Ic |
38 |
890 |
c
|
CNG504 |
Congenital Disorder of Glycosylation, Type Iip |
38 |
891 |
c
|
SPS119 |
Spastic Paraplegia 55, Autosomal Recessive |
38 |
892 |
c
|
SPS100 |
Spastic Paraplegia 38, Autosomal Dominant |
38 |
893 |
|
SPS226 |
Spastic Paraplegia, Ataxia, and Mental Retardation |
37 |
894 |
|
BLB005 |
Beaulieu-Boycott-Innes Syndrome |
37 |
895 |
c
|
SPS113 |
Spastic Paraplegia 33, Autosomal Dominant |
37 |
896 |
c
|
SPS096 |
Spastic Paraplegia 44, Autosomal Recessive |
37 |
897 |
c
|
CNG200 |
Congenital Disorder of Glycosylation, Type Iq |
37 |
898 |
c
|
CNG379 |
Congenital Disorder of Glycosylation, Type It |
36 |
899 |
|
HYP629 |
Hyperphosphatasia-Intellectual Disability Syndrome |
36 |
900 |
c
|
SPN247 |
Spinocerebellar Ataxia Type 19/22 |
36 |
901 |
c
|
SPS141 |
Spastic Paraplegia 61, Autosomal Recessive |
36 |
902 |
c
|
SPN283 |
Spinocerebellar Ataxia 37 |
36 |
903 |
c
|
SPN325 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
36 |
904 |
c
|
SPS237 |
Spastic Paraplegia 30, Autosomal Dominant |
35 |
905 |
c
|
SPS227 |
Spastic Paraplegia 62, Autosomal Recessive |
35 |
906 |
P
|
SYN165 |
Syndromic Microphthalmia |
35 |
907 |
c
|
MCR312 |
Microphthalmia, Syndromic 10 |
35 |
908 |
c
|
CNG205 |
Congenital Disorder of Glycosylation, Type Ij |
35 |
909 |
c
|
SPN381 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
35 |
910 |
c
|
MCR251 |
Microphthalmia, Syndromic 6 |
35 |
911 |
c
|
SPN419 |
Spinocerebellar Ataxia 45 |
35 |
912 |
c
|
SPS114 |
Spastic Paraplegia 45, Autosomal Recessive |
35 |
913 |
c
|
SPS210 |
Spastic Paraplegia 76, Autosomal Recessive |
35 |
914 |
c
|
CNG386 |
Congenital Disorder of Glycosylation, Type Iu |
35 |
915 |
c
|
SPN377 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
35 |
916 |
c
|
MCR245 |
Microphthalmia, Syndromic 8 |
34 |
917 |
c
|
SPS228 |
Spastic Paraplegia 63, Autosomal Recessive |
34 |
918 |
c
|
MCR252 |
Microphthalmia, Syndromic 5 |
34 |
919 |
c
|
SPS123 |
Spastic Paraplegia 32, Autosomal Recessive |
34 |
920 |
c
|
CNG192 |
Congenital Disorder of Glycosylation, Type Ik |
34 |
921 |
c
|
SPN099 |
Spinocerebellar Ataxia 26 |
34 |
922 |
c
|
CNG193 |
Congenital Disorder of Glycosylation, Type Ip |
34 |
923 |
c
|
SPN102 |
Spinocerebellar Ataxia 30 |
34 |
924 |
c
|
SPN299 |
Spinocerebellar Ataxia 20 |
33 |
925 |
c
|
SPS157 |
Spastic Paraplegia 64, Autosomal Recessive |
33 |
926 |
c
|
SPN095 |
Spinocerebellar Ataxia 19 |
32 |
927 |
c
|
SPS203 |
Spastic Paraplegia 78, Autosomal Recessive |
32 |
928 |
c
|
CNG188 |
Congenital Disorder of Glycosylation, Type if |
32 |
929 |
c
|
SPN383 |
Spinocerebellar Ataxia 42 |
32 |
930 |
c
|
SPS105 |
Spastic Paraplegia 37, Autosomal Dominant |
31 |
931 |
c
|
CNG403 |
Congenital Disorder of Glycosylation, Type Ix |
31 |
932 |
c
|
SPN094 |
Spinocerebellar Ataxia 18 |
31 |
933 |
c
|
SPN292 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
31 |
934 |
c
|
CNG416 |
Congenital Disorder of Glycosylation, Type Iy |
30 |
935 |
c
|
SPS102 |
Spastic Paraplegia 25, Autosomal Recessive |
30 |
936 |
c
|
SPS021 |
Spastic Paraplegia 10 |
30 |
937 |
c
|
SPN376 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
29 |
938 |
c
|
SPS110 |
Spastic Paraplegia 19, Autosomal Dominant |
29 |
939 |
c
|
SPS115 |
Spastic Paraplegia 41, Autosomal Dominant |
29 |
940 |
c
|
SPN286 |
Spinocerebellar Ataxia 40 |
29 |
941 |
c
|
SPS138 |
Spastic Paraplegia 72, Autosomal Recessive |
29 |
942 |
c
|
CNG378 |
Congenital Disorder of Glycosylation, Type Ir |
29 |
943 |
c
|
SPS068 |
Spastic Paraplegia 14, Autosomal Recessive |
29 |
944 |
c
|
SPN098 |
Spinocerebellar Ataxia 25 |
29 |
945 |
c
|
SPS094 |
Spastic Paraplegia 29, Autosomal Dominant |
28 |
946 |
c
|
MCR212 |
Microphthalmia, Syndromic 12 |
28 |
947 |
c
|
SPS120 |
Spastic Paraplegia 24, Autosomal Recessive |
28 |
948 |
|
NSY001 |
N Syndrome |
28 |
949 |
c
|
TRC100 |
Trichothiodystrophy 3, Photosensitive |
28 |
950 |
c
|
SPS111 |
Spastic Paraplegia 27, Autosomal Recessive |
28 |
951 |
c
|
SPS091 |
Spastic Paraplegia 4 |
28 |
952 |
c
|
SPN272 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
28 |
953 |
c
|
SPN313 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
28 |
954 |
c
|
SPN298 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
28 |
955 |
|
PLL004 |
Pallister W Syndrome |
28 |
956 |
c
|
MTC074 |
Metachromatic Leukodystrophy, Adult Form |
28 |
957 |
c
|
SPS206 |
Spastic Paraplegia 77, Autosomal Recessive |
27 |
958 |
c
|
MTC075 |
Metachromatic Leukodystrophy, Late Infantile Form |
27 |
959 |
c
|
SPN431 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
27 |
960 |
c
|
SPN427 |
Spinocerebellar Ataxia 48 |
27 |
961 |
|
CHR506 |
Choroideremia, Deafness, and Mental Retardation |
27 |
962 |
c
|
SPS231 |
Spastic Paraplegia 23, Autosomal Recessive |
27 |
963 |
c
|
SPS118 |
Spastic Paraplegia 36, Autosomal Dominant |
27 |
964 |
c
|
CNG388 |
Congenital Disorder of Glycosylation, Type Iw |
27 |
965 |
c
|
CNG496 |
Congenital Disorder of Glycosylation, Type Iiq |
27 |
966 |
c
|
SPS205 |
Spastic Paraplegia 79, Autosomal Recessive |
27 |
967 |
c
|
HRD220 |
Hereditary Spastic Paraplegia 30 |
27 |
968 |
c
|
MTC076 |
Metachromatic Leukodystrophy, Juvenile Form |
27 |
969 |
P
|
SPS012 |
Spastic Paraplegia 3a |
26 |
970 |
c
|
SPN418 |
Spinocerebellar Ataxia 44 |
26 |
971 |
c
|
SPS156 |
Spastic Paraplegia 74, Autosomal Recessive |
26 |
972 |
c
|
SPN420 |
Spinocerebellar Ataxia 46 |
26 |
973 |
c
|
SPN421 |
Spinocerebellar Ataxia 47 |
25 |
974 |
c
|
MCR262 |
Microphthalmia, Syndromic 4 |
25 |
975 |
c
|
SPS013 |
Spastic Paraplegia 8 |
25 |
976 |
c
|
SPS232 |
Spastic Paraplegia 80, Autosomal Dominant |
25 |
977 |
c
|
DYR001 |
Dyrk1a-Related Intellectual Disability Syndrome |
25 |
978 |
c
|
HRD186 |
Hereditary Spastic Paraplegia 51 |
24 |
979 |
c
|
SPN254 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
24 |
980 |
|
CRN267 |
Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation |
24 |
981 |
c
|
GNT040 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
24 |
982 |
c
|
MCR228 |
Microphthalmia, Syndromic 13 |
24 |
983 |
c
|
SPN372 |
Spinocerebellar Ataxia 43 |
23 |
984 |
c
|
SPS039 |
Spastic Paraplegia 5a |
23 |
985 |
c
|
SPS238 |
Spastic Paraplegia 81, Autosomal Recessive |
23 |
986 |
c
|
SPN323 |
Spinocerebellar Ataxia 41 |
23 |
987 |
c
|
SPS025 |
Spastic Paraplegia 15 |
23 |
988 |
c
|
SPN384 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
23 |
989 |
c
|
MCR217 |
Microphthalmia, Syndromic 11 |
23 |
990 |
c
|
HRD188 |
Hereditary Spastic Paraplegia 72 |
23 |
991 |
c
|
SPS036 |
Spastic Paraplegia 3 |
23 |
992 |
c
|
SPS027 |
Spastic Paraplegia 17 |
22 |
993 |
|
MD2001 |
Med23 |
22 |
994 |
|
LWR016 |
Lowry-Maclean Syndrome |
22 |
995 |
c
|
CNG507 |
Congenital Disorder of Glycosylation, Type I/iix |
22 |
996 |
c
|
HRD210 |
Hereditary Spastic Paraplegia 23 |
22 |
997 |
|
MTP004 |
Metaphyseal Acroscyphodysplasia |
22 |
998 |
c
|
SPN378 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
22 |
999 |
c
|
SPS239 |
Spastic Paraplegia 82, Autosomal Recessive |
21 |
1000 |
|
HNT017 |
Hunter-Mcalpine Craniosynostosis Syndrome |
21 |
1001 |
|
GRR002 |
Gurrieri Syndrome |
21 |
1002 |
c
|
SPN375 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
21 |
1003 |
|
XLN162 |
X-Linked Intellectual Disability, Najm Type |
21 |
1004 |
c
|
CNG617 |
Congenital Disorder of Glycosylation, Type Iit |
21 |
1005 |
c
|
TRC099 |
Trichothiodystrophy 2, Photosensitive |
21 |
1006 |
|
MCR305 |
Microcephaly with Cervical Spine Fusion Anomalies |
20 |
1007 |
|
INT343 |
Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects |
20 |
1008 |
c
|
MNT181 |
Mental Retardation, Autosomal Recessive 35 |
19 |
1009 |
c
|
SPS041 |
Spastic Paraplegia 6 |
19 |
1010 |
|
MCR052 |
Microcephaly Microcornea Syndrome Seemanova Type |
19 |
1011 |
|
PTR028 |
Pterygia, Mental Retardation, and Distinctive Craniofacial Features |
19 |
1012 |
c
|
SPN259 |
Spinocerebellar Ataxia 32 |
19 |
1013 |
|
OST047 |
Osteopenia and Sparse Hair |
19 |
1014 |
c
|
CNG615 |
Congenital Disorder of Glycosylation, Type Iir |
18 |
1015 |
|
ICH065 |
Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation |
18 |
1016 |
c
|
SPS028 |
Spastic Paraplegia 18 |
17 |
1017 |
|
MRF017 |
Marfanoid Mental Retardation Syndrome, Autosomal |
17 |
1018 |
|
HYP688 |
Hypospadias-Mental Retardation Syndrome |
17 |
1019 |
|
MNT251 |
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face |
17 |
1020 |
|
LKM069 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
17 |
1021 |
|
KZL006 |
Kozlowski-Krajewska Syndrome |
17 |
1022 |
|
THM019 |
Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay |
17 |
1023 |
|
ARL006 |
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation |
17 |
1024 |
|
OPH013 |
Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency |
17 |
1025 |
|
VND003 |
Van Den Bosch Syndrome |
17 |
1026 |
|
MTP032 |
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness |
17 |
1027 |
c
|
MNT172 |
Mental Retardation, Autosomal Recessive 25 |
17 |
1028 |
c
|
SYN073 |
Syngap1-Related Intellectual Disability |
17 |
1029 |
|
CBT001 |
Cubitus Valgus with Mental Retardation and Unusual Facies |
16 |
1030 |
c
|
SPN111 |
Spinocerebellar Ataxia Autosomal Recessive 5 |
16 |
1031 |
c
|
SPN440 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
16 |
1032 |
|
SPS194 |
Spastic Paresis, Glaucoma, and Mental Retardation |
16 |
1033 |
|
DXT003 |
Dextrocardia with Unusual Facies and Microphthalmia |
16 |
1034 |
|
ALP090 |
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism |
16 |
1035 |
|
CHR580 |
Choroid Plexus Calcification and Mental Retardation |
16 |
1036 |
|
EPD032 |
Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation |
16 |
1037 |
|
SPS047 |
Spastic Paraplegia with Precocious Puberty |
16 |
1038 |
|
CHM001 |
Cahmr Syndrome |
16 |
1039 |
c
|
GNT045 |
Giant Axonal Neuropathy 2 |
16 |
1040 |
|
ART029 |
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation |
16 |
1041 |
c
|
SPS023 |
Spastic Paraplegia 13 |
16 |
1042 |
c
|
MNT162 |
Mental Retardation, Autosomal Recessive 24 |
16 |
1043 |
|
BRC089 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
15 |
1044 |
c
|
MNT163 |
Mental Retardation, Autosomal Recessive 30 |
15 |
1045 |
c
|
MNT161 |
Mental Retardation, Autosomal Recessive 29 |
15 |
1046 |
c
|
ATS412 |
Autosomal Dominant Spastic Paraplegia Type 9b |
15 |
1047 |
c
|
SPS042 |
Spastic Paraplegia 9 |
15 |
1048 |
c
|
SPN107 |
Spinocerebellar Ataxia 9 |
15 |
1049 |
c
|
SPS032 |
Spastic Paraplegia 24 |
15 |
1050 |
c
|
ALP063 |
Alopecia-Mental Retardation Syndrome 3 |
15 |
1051 |
|
CTS046 |
Cutis Verticis Gyrata and Mental Retardation |
15 |
1052 |
c
|
BCL018 |
Bcl11a-Related Intellectual Disability |
15 |
1053 |
|
SPS195 |
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation |
14 |
1054 |
c
|
MNT170 |
Mental Retardation, Autosomal Recessive 23 |
14 |
1055 |
|
SPS193 |
Spastic Paraplegia, Epilepsy, and Mental Retardation |
14 |
1056 |
c
|
SPS038 |
Spastic Paraplegia 39 |
14 |
1057 |
c
|
ATS185 |
Autosomal Recessive Spastic Paraplegia Type 59 |
14 |
1058 |
c
|
ATS190 |
Autosomal Recessive Spastic Paraplegia Type 66 |
14 |
1059 |
|
CRM012 |
Cree Mental Retardation Syndrome |
13 |
1060 |
c
|
ATS187 |
Autosomal Recessive Spastic Paraplegia Type 69 |
13 |
1061 |
|
EHL082 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
13 |
1062 |
|
PLN009 |
Palant Cleft Palate Syndrome |
13 |
1063 |
c
|
ATS188 |
Autosomal Recessive Spastic Paraplegia Type 70 |
13 |
1064 |
|
XLN128 |
X-Linked Intellectual Disability, Abidi Type |
13 |
1065 |
c
|
ATS191 |
Autosomal Recessive Spastic Paraplegia Type 67 |
13 |
1066 |
c
|
SPS022 |
Spastic Paraplegia 12 |
13 |
1067 |
c
|
SPS029 |
Spastic Paraplegia 19 |
13 |
1068 |
c
|
ATS189 |
Autosomal Recessive Spastic Paraplegia Type 71 |
13 |
1069 |
c
|
CSK002 |
Cask-Related Intellectual Disability |
13 |
1070 |
c
|
SPS035 |
Spastic Paraplegia 29 |
13 |
1071 |
c
|
SPS034 |
Spastic Paraplegia 26 |
13 |
1072 |
|
INT286 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
13 |
1073 |
|
MND028 |
Mandibulofacial Dysostosis with Mental Retardation |
13 |
1074 |
c
|
ATS184 |
Autosomal Recessive Spastic Paraplegia Type 60 |
12 |
1075 |
c
|
SPS033 |
Spastic Paraplegia 25 |
12 |
1076 |
c
|
SPS161 |
Spastic Paraplegia 32 |
12 |
1077 |
c
|
SPS024 |
Spastic Paraplegia 14 |
12 |
1078 |
|
SPN396 |
Spinal Muscular Atrophy with Mental Retardation |
12 |
1079 |
|
DVR003 |
Devriendt Syndrome |
12 |
1080 |
|
PRK068 |
Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments |
12 |
1081 |
c
|
SPS165 |
Spastic Paraplegia 47 |
12 |
1082 |
|
MNT316 |
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature |
11 |
1083 |
c
|
SPS230 |
Spastic Paraplegia Type 49 |
11 |
1084 |
|
TNK001 |
Tonoki Syndrome |
11 |
1085 |
c
|
SPS026 |
Spastic Paraplegia 16 |
11 |
1086 |
c
|
HVP001 |
Hivep2-Related Intellectual Disability |
10 |
1087 |
|
ICH027 |
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin |
10 |
1088 |
|
HRD035 |
Hair Defect with Photosensitivity and Mental Retardation |
10 |
1089 |
c
|
TRR002 |
Trio-Related Intellectual Disability |
10 |
1090 |
c
|
WCR002 |
Wac-Related Intellectual Disability |
10 |
1091 |
|
VTL010 |
Vitiligo, Progressive, with Mental Retardation and Urethral Duplication |
10 |
1092 |
c
|
WDR002 |
Wdr26-Related Intellectual Disability |
9 |
1093 |
|
SCR041 |
Sucrosuria, Hiatus Hernia and Mental Retardation |
9 |
1094 |
|
MNT250 |
Mental Retardation with Spastic Paraplegia |
9 |
1095 |
P
|
RRN017 |
Rare Intellectual Disability |
9 |
1096 |
|
HYP783 |
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly |
9 |
1097 |
|
SPS217 |
Spastic Paraplegia, Optic Atrophy, and Dementia |
9 |
1098 |
c
|
ATS410 |
Autosomal Dominant Intellectual Disability 49 |
8 |
1099 |
c
|
ATS360 |
Autosomal Recessive Intellectual Disability 58 |
8 |
1100 |
|
IND013 |
Indolylacroyl Glycinuria with Mental Retardation |
8 |
1101 |
c
|
PPP001 |
Ppp2r5d-Related Intellectual Disability |
8 |
1102 |
|
NRD075 |
Neurodegenerative Disease with Dementia |
8 |
1103 |
|
PFF003 |
Pfeiffer Mayer Syndrome |
7 |
1104 |
|
SNG001 |
Singh Chhaparwal Dhanda Syndrome |
7 |
1105 |
|
PSS002 |
Piussan Lenaerts Mathieu Syndrome |
7 |
1106 |
c
|
INT307 |
Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation |
7 |
1107 |
c
|
SPS040 |
Spastic Paraplegia 5b |
7 |
1108 |
|
CNT052 |
Cantalamessa Baldini Ambrosi Syndrome |
7 |
1109 |
|
ZZM001 |
Zazam Sheriff Phillips Syndrome |
7 |
1110 |
c
|
ATS403 |
Autosomal Dominant Intellectual Disability 40 |
6 |
1111 |
|
MCR072 |
Microdontia Hypodontia Short Stature |
6 |
1112 |
c
|
GRD008 |
Grid2-Related Spinocerebellar Ataxia |
6 |
1113 |
P
|
DSR041 |
Disorder of Multiple Glycosylation |
6 |
1114 |
|
ICH006 |
Ichthyosis Alopecia Eclabion Ectropion Mental Retardation |
5 |
1115 |
|
KSZ002 |
Kosztolanyi Syndrome |
5 |
1116 |
|
KZL003 |
Kozlowski Ouvrier Syndrome |
5 |
1117 |
c
|
ATS348 |
Autosomal Dominant Intellectual Disability 30 |
5 |
1118 |
|
SPN344 |
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation |
5 |
1119 |
|
ANM047 |
Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/mental Retardation Syndrome |
5 |
1120 |
c
|
SN3001 |
Sin3a-Related Intellectual Disability Syndrome |
5 |
1121 |
|
MCR342 |
Microcephaly, Macrotia, and Mental Retardation |
4 |
1122 |
|
PRG135 |
Progressive Dementia with Neuroserpin Inclusion Bodies |
4 |
1123 |
|
SHL003 |
Shoulder Girdle Defect Mental Retardation Familial |
4 |
1124 |
c
|
ACS002 |
Acsl4-Related Intellectual Disability |
3 |
1125 |
c
|
ARX002 |
Arx-Related Intellectual Disability |
3 |
1126 |
c
|
DDX001 |
Ddx3x-Related Intellectual Disability |
3 |
1127 |
|
RRC034 |
Rare Cerebrovascular Dementia |
3 |
1128 |
|
MTB017 |
Metabolic Disease with Dementia |
3 |
1129 |
|
CNT055 |
Cantu Sanchez-Corona Hernandez Syndrome |
3 |
1130 |
|
GRX001 |
Grix Blankenship Peterson Syndrome |
3 |
1131 |
|
GNT110 |
Genetic Neurodegenerative Disease with Dementia |
3 |
1132 |
|
CRN064 |
Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation |
2 |
1133 |
P
|
JBR020 |
Joubert Syndrome 1 |
72 |
1134 |
P
|
KBK002 |
Kabuki Syndrome 1 |
67 |
1135 |
c
|
ATS007 |
Autism Spectrum Disorder |
67 |
1136 |
|
ALC007 |
Alcohol Dependence |
66 |
1137 |
P
|
BRD002 |
Bardet-Biedl Syndrome |
66 |
1138 |
|
ANR007 |
Anorexia Nervosa |
63 |
1139 |
c
|
BRD010 |
Bardet-Biedl Syndrome 1 |
62 |
1140 |
|
MDD011 |
Mood Disorder |
62 |
1141 |
|
FCS002 |
Fucosidosis |
61 |
1142 |
|
CHR066 |
Chronic Fatigue Syndrome |
61 |
1143 |
c
|
CRD186 |
Ceroid Lipofuscinosis, Neuronal, 3 |
60 |
1144 |
|
BLM002 |
Bulimia Nervosa |
57 |
1145 |
c
|
LSS005 |
Lissencephaly 1 |
56 |
1146 |
P
|
SCK004 |
Seckel Syndrome |
56 |
1147 |
c
|
JBR041 |
Joubert Syndrome 3 |
53 |
1148 |
c
|
BRD011 |
Bardet-Biedl Syndrome 10 |
53 |
1149 |
|
NRT001 |
Neurotic Disorder |
53 |
1150 |
c
|
LSS006 |
Lissencephaly 2 |
52 |
1151 |
c
|
NRD008 |
Neurodegeneration with Brain Iron Accumulation 3 |
52 |
1152 |
P
|
NRC002 |
Narcolepsy |
52 |
1153 |
|
APR001 |
Apraxia |
52 |
1154 |
c
|
BRD012 |
Bardet-Biedl Syndrome 11 |
51 |
1155 |
P
|
LSS002 |
Lissencephaly |
51 |
1156 |
c
|
JBR018 |
Joubert Syndrome 4 |
51 |
1157 |
|
BRX001 |
Bruxism |
50 |
1158 |
|
PRN009 |
Paranoid Schizophrenia |
50 |
1159 |
c
|
BRD020 |
Bardet-Biedl Syndrome 8 |
50 |
1160 |
c
|
SCK009 |
Seckel Syndrome 1 |
49 |
1161 |
c
|
NRC009 |
Narcolepsy 1 |
49 |
1162 |
c
|
BPL002 |
Bipolar I Disorder |
49 |
1163 |
|
LRN003 |
Learning Disability |
49 |
1164 |
c
|
JBR004 |
Joubert Syndrome 2 |
48 |
1165 |
c
|
JBR012 |
Joubert Syndrome 5 |
47 |
1166 |
|
DLS001 |
Delusional Disorder |
47 |
1167 |
|
HYP016 |
Hypochondriasis |
47 |
1168 |
c
|
CRD225 |
Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant |
46 |
1169 |
c
|
JBR011 |
Joubert Syndrome 7 |
46 |
1170 |
|
CHR492 |
Chromosome 13q14 Deletion Syndrome |
46 |
1171 |
c
|
JBR025 |
Joubert Syndrome 17 |
46 |
1172 |
c
|
JBR035 |
Joubert Syndrome 24 |
46 |
1173 |
|
OBS003 |
Obsessive-Compulsive Personality Disorder |
46 |
1174 |
c
|
BRD047 |
Bardet-Biedl Syndrome 16 |
46 |
1175 |
c
|
JBR015 |
Joubert Syndrome 6 |
45 |
1176 |
c
|
BRD013 |
Bardet-Biedl Syndrome 12 |
45 |
1177 |
c
|
JBR024 |
Joubert Syndrome 14 |
44 |
1178 |
c
|
BRD033 |
Bardet-Biedl Syndrome 13 |
44 |
1179 |
|
DPR002 |
Depersonalization Disorder |
43 |
1180 |
c
|
JBR014 |
Joubert Syndrome 9 |
43 |
1181 |
P
|
MJR007 |
Major Affective Disorder 1 |
43 |
1182 |
c
|
CRD166 |
Ceroid Lipofuscinosis, Neuronal, 11 |
42 |
1183 |
c
|
BRD044 |
Bardet-Biedl Syndrome 17 |
42 |
1184 |
c
|
JBR013 |
Joubert Syndrome 8 |
42 |
1185 |
c
|
JBR028 |
Joubert Syndrome 13 |
42 |
1186 |
c
|
MNT319 |
Mental Retardation, Autosomal Dominant 20 |
42 |
1187 |
c
|
ADL066 |
Adult Neuronal Ceroid Lipofuscinosis |
41 |
1188 |
c
|
JBR016 |
Joubert Syndrome 10 |
41 |
1189 |
P
|
HYP263 |
Hypersomnia |
41 |
1190 |
c
|
ADV003 |
Advanced Sleep Phase Syndrome, Familial, 1 |
41 |
1191 |
|
CRB148 |
Cerebral Creatine Deficiency Syndrome 3 |
41 |
1192 |
|
PCD001 |
Pica Disease |
41 |
1193 |
c
|
JBR026 |
Joubert Syndrome 15 |
40 |
1194 |
|
BDY001 |
Body Dysmorphic Disorder |
40 |
1195 |
P
|
DYS005 |
Dyslexia |
40 |
1196 |
c
|
JBR031 |
Joubert Syndrome 21 |
40 |
1197 |
c
|
BRD048 |
Bardet-Biedl Syndrome 18 |
40 |
1198 |
c
|
BRD017 |
Bardet-Biedl Syndrome 5 |
38 |
1199 |
c
|
SPL034 |
Split-Hand/foot Malformation 4 |
38 |
1200 |
c
|
LSS010 |
Lissencephaly 4 |
38 |
1201 |
c
|
SPN258 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
37 |
1202 |
c
|
BRD045 |
Bardet-Biedl Syndrome 19 |
37 |
1203 |
c
|
BRD035 |
Bardet-Biedl Syndrome 15 |
37 |
1204 |
c
|
WRB005 |
Warburg Micro Syndrome 4 |
37 |
1205 |
c
|
LSS009 |
Lissencephaly 3 |
37 |
1206 |
|
CMB002 |
Combat Disorder |
36 |
1207 |
|
DYS003 |
Dysgraphia |
36 |
1208 |
c
|
JBR042 |
Joubert Syndrome 23 |
36 |
1209 |
c
|
NRC010 |
Narcolepsy 2 |
36 |
1210 |
c
|
SCK029 |
Seckel Syndrome 7 |
36 |
1211 |
|
ALC001 |
Alcohol-Related Birth Defect |
36 |
1212 |
c
|
CFF011 |
Coffin-Siris Syndrome 6 |
35 |
1213 |
c
|
CRD216 |
Ceroid Lipofuscinosis, Neuronal, 9 |
35 |
1214 |
c
|
MJR008 |
Major Affective Disorder 2 |
35 |
1215 |
c
|
JBR037 |
Joubert Syndrome 26 |
34 |
1216 |
c
|
JBR030 |
Joubert Syndrome 22 |
34 |
1217 |
c
|
JBR022 |
Joubert Syndrome 20 |
34 |
1218 |
|
VSL003 |
Visual Agnosia |
34 |
1219 |
c
|
JBR036 |
Joubert Syndrome 25 |
33 |
1220 |
c
|
RCR002 |
Recurrent Hypersomnia |
33 |
1221 |
c
|
SCH080 |
Schizophrenia 3 |
32 |
1222 |
|
RMN001 |
Rumination Disorder |
31 |
1223 |
c
|
KBK003 |
Kabuki Syndrome 2 |
31 |
1224 |
c
|
SCH082 |
Schizophrenia 5 |
31 |
1225 |
|
MGC007 |
Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations |
31 |
1226 |
|
ALC002 |
Alcohol-Related Neurodevelopmental Disorder |
30 |
1227 |
c
|
JBR045 |
Joubert Syndrome 33 |
30 |
1228 |
|
SML010 |
Simultanagnosia |
30 |
1229 |
|
WTS001 |
Watson Syndrome |
30 |
1230 |
c
|
SCK032 |
Seckel Syndrome 6 |
29 |
1231 |
|
PRN010 |
Paranoid Personality Disorder |
29 |
1232 |
c
|
BRD050 |
Bardet-Biedl Syndrome 21 |
29 |
1233 |
c
|
SCH084 |
Schizophrenia 8 |
28 |
1234 |
|
VSC004 |
Vasculogenic Impotence |
28 |
1235 |
c
|
ATS173 |
Autism 18 |
28 |
1236 |
c
|
SCH053 |
Schizophrenia 13 |
28 |
1237 |
c
|
JBR044 |
Joubert Syndrome 31 |
28 |
1238 |
c
|
ATS367 |
Autism X-Linked 3 |
28 |
1239 |
c
|
DYS121 |
Dyslexia 1 |
27 |
1240 |
c
|
EPL189 |
Epileptic Encephalopathy, Early Infantile, 37 |
27 |
1241 |
c
|
LSS025 |
Lissencephaly 5 |
26 |
1242 |
c
|
JBR027 |
Joubert Syndrome 16 |
26 |
1243 |
|
CNC001 |
Cancerophobia |
26 |
1244 |
c
|
JBR021 |
Joubert Syndrome 18 |
26 |
1245 |
c
|
SCH061 |
Schizophrenia 16 |
26 |
1246 |
c
|
ADV006 |
Advanced Sleep Phase Syndrome, Familial, 3 |
25 |
1247 |
c
|
JBR043 |
Joubert Syndrome 32 |
25 |
1248 |
c
|
JBR040 |
Joubert Syndrome 30 |
25 |
1249 |
c
|
JBR039 |
Joubert Syndrome 28 |
25 |
1250 |
c
|
ATS268 |
Autism X-Linked 4 |
25 |
1251 |
c
|
ATS358 |
Autism X-Linked 6 |
24 |
1252 |
c
|
BRD051 |
Bardet-Biedl Syndrome 20 |
24 |
1253 |
|
PRT001 |
Partial Fetal Alcohol Syndrome |
24 |
1254 |
|
CRT007 |
Cortical Deafness |
24 |
1255 |
c
|
LSS035 |
Lissencephaly 8 |
24 |
1256 |
c
|
DYS120 |
Dyslexia 2 |
24 |
1257 |
c
|
JBR047 |
Joubert Syndrome 35 |
24 |
1258 |
c
|
SCK037 |
Seckel Syndrome 9 |
24 |
1259 |
|
ELC001 |
Elective Mutism |
23 |
1260 |
c
|
SCK038 |
Seckel Syndrome 10 |
23 |
1261 |
|
ADT001 |
Auditory Agnosia |
22 |
1262 |
c
|
JBR038 |
Joubert Syndrome 27 |
22 |
1263 |
|
TCT002 |
Tactile Agnosia |
22 |
1264 |
c
|
JBR048 |
Joubert Syndrome 36 |
22 |
1265 |
c
|
SCH086 |
Schizophrenia 11 |
22 |
1266 |
c
|
NRC017 |
Narcolepsy 7 |
20 |
1267 |
c
|
ATS377 |
Autism 16 |
20 |
1268 |
|
AST004 |
Astereognosia |
20 |
1269 |
c
|
ADV007 |
Advanced Sleep Phase Syndrome, Familial, 2 |
20 |
1270 |
|
DVL019 |
Developmental Delay and Seizures with or Without Movement Abnormalities |
19 |
1271 |
c
|
ATS177 |
Autism X-Linked 5 |
18 |
1272 |
c
|
LSS042 |
Lissencephaly 10 |
18 |
1273 |
c
|
NRC011 |
Narcolepsy 3 |
17 |
1274 |
c
|
DYS125 |
Dyslexia 8 |
16 |
1275 |
c
|
SYN077 |
Syndromic X-Linked Intellectual Disability 12 |
15 |
1276 |
c
|
NRC012 |
Narcolepsy 4 |
14 |
1277 |
c
|
NRC013 |
Narcolepsy 5 |
14 |
1278 |
c
|
NRC018 |
Narcolepsy 6 |
14 |
1279 |
c
|
DYS122 |
Dyslexia 3 |
13 |
1280 |
c
|
DYS124 |
Dyslexia 6 |
12 |
1281 |
c
|
DYS123 |
Dyslexia 5 |
11 |
1282 |
c
|
DYS126 |
Dyslexia 9 |
10 |
1283 |
|
VSL001 |
Visual Verbal Agnosia |
7 |
1284 |
|
GNR012 |
Generalized Gangliosidoses |
5 |
1285 |
c
|
BPL001 |
Bipolar Ll Disorder |
5 |
1286 |
|
FTL063 |
Fetal Nicotine Spectrum Disorder |
3 |
1287 |
|
ALP100 |
Alpha-Thalassemia/mental Retardation Syndrome, X-Linked |
66 |
1288 |
|
ALP093 |
Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related |
41 |
1289 |
|
LKN025 |
Leukoencephalopathy, Hereditary Diffuse, with Spheroids |
65 |
1290 |
|
CHR696 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia |
32 |
1291 |
|
MNT318 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome |
29 |
1292 |
c
|
MSC042 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 6 |
48 |
1293 |
|
ENC039 |
Encephalopathy, Familial, with Neuroserpin Inclusion Bodies |
49 |
1294 |
c
|
AMY091 |
Amyotrophic Lateral Sclerosis 1 |
89 |
1295 |
|
INS024 |
Insulin-Like Growth Factor I |
79 |
1296 |
|
CRT072 |
Creutzfeldt-Jakob Disease |
70 |
1297 |
c
|
MSC036 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 |
64 |
1298 |
c
|
MSC037 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 |
60 |
1299 |
c
|
MSC047 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 1 |
59 |
1300 |
c
|
MSC035 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 5 |
48 |
1301 |
c
|
MSC108 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 |
45 |
1302 |
c
|
MSC093 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 |
45 |
1303 |
c
|
MSC103 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 4 |
44 |
1304 |
c
|
MSC100 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 |
40 |
1305 |
c
|
MSC098 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 |
39 |
1306 |
c
|
MSC111 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 7 |
38 |
1307 |
P
|
MSC002 |
Muscular Dystrophy-Dystroglycanopathy |
35 |
1308 |
c
|
MSC048 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 |
32 |
1309 |
c
|
CNG546 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type a |
31 |
1310 |
c
|
MSC044 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 2 |
30 |
1311 |
c
|
MSC182 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 15 |
29 |
1312 |
c
|
CNG557 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 |
29 |
1313 |
c
|
MSC102 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 |
29 |
1314 |
c
|
MSC167 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 11 |
29 |
1315 |
c
|
MSC105 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 |
28 |
1316 |
c
|
MSC046 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 |
27 |
1317 |
c
|
CNG553 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 |
27 |
1318 |
c
|
MSC097 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 14 |
27 |
1319 |
c
|
CNG558 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 |
26 |
1320 |
c
|
MSC118 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 12 |
26 |
1321 |
c
|
CNG554 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 |
24 |
1322 |
c
|
CNG551 |
Congenital Muscular Dystrophy-Dystroglycanopathy A7 |
24 |
1323 |
c
|
MSC038 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 |
22 |
1324 |
c
|
MSC188 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 8 |
22 |
1325 |
c
|
CNG559 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 |
21 |
1326 |
c
|
CNG550 |
Congenital Muscular Dystrophy-Dystroglycanopathy A14 |
20 |
1327 |
c
|
CNG547 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 |
19 |
1328 |
c
|
CNG556 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 |
17 |
1329 |
c
|
CNG552 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 |
11 |
1330 |
c
|
CNG555 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 |
9 |
1331 |
c
|
CNG548 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 |
9 |
1332 |
c
|
CNG549 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 |
9 |
1333 |
|
RCH002 |
Richards-Rundle Syndrome |
33 |
1334 |
|
OPT062 |
Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures |
31 |
1335 |
|
SCP007 |
Scaphocephaly, Maxillary Retrusion, and Mental Retardation |
27 |
1336 |
|
CRN268 |
Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis |
25 |
1337 |
|
BRC097 |
Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation |
24 |
1338 |
|
HRS040 |
Hirsutism, Skeletal Dysplasia, and Mental Retardation |
15 |
1339 |
|
LBN005 |
Lubani-Al Saleh-Teebi Syndrome |
6 |
1340 |
|
BHR001 |
Behr Syndrome |
51 |
1341 |
c
|
WRB002 |
Warburg Micro Syndrome 1 |
50 |
1342 |
c
|
MSC104 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 |
49 |
1343 |
|
MRS004 |
Marshall-Smith Syndrome |
49 |
1344 |
c
|
WRB003 |
Warburg Micro Syndrome 2 |
41 |
1345 |
P
|
WRB001 |
Warburg Micro Syndrome |
40 |
1346 |
P
|
MPL001 |
Maple Syrup Urine Disease |
69 |
1347 |
|
NRP045 |
Neuropathy, Ataxia, and Retinitis Pigmentosa |
52 |
1348 |
|
GRD009 |
Gordon Holmes Syndrome |
51 |
1349 |
|
FTL002 |
Fatal Familial Insomnia |
49 |
1350 |
c
|
CRD226 |
Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive |
46 |
1351 |
c
|
DFN036 |
Deafness, X-Linked 2 |
44 |
1352 |
c
|
DFN194 |
Deafness, X-Linked 1 |
36 |
1353 |
c
|
DFN147 |
Deafness, X-Linked 4 |
33 |
1354 |
|
STM015 |
Stomatin-Deficient Cryohydrocytosis with Neurologic Defects |
30 |
1355 |
c
|
DFN276 |
Deafness, X-Linked 6 |
28 |
1356 |
|
MMS001 |
Momo Syndrome |
28 |
1357 |
c
|
XLN004 |
X-Linked Nonsyndromic Deafness |
28 |
1358 |
c
|
DFN146 |
Deafness, X-Linked 3 |
27 |
1359 |
c
|
DFN186 |
Deafness, Y-Linked 1 |
26 |
1360 |
c
|
INT262 |
Intermediate Maple Syrup Urine Disease |
23 |
1361 |
P
|
YLN003 |
Y-Linked Deafness |
21 |
1362 |
c
|
DFN370 |
Deafness, X-Linked 7 |
20 |
1363 |
|
ATX047 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation |
18 |
1364 |
c
|
DFN372 |
Deafness, Y-Linked 2 |
16 |
1365 |
c
|
MNN047 |
Mannosidosis, Alpha B, Lysosomal |
66 |
1366 |
c
|
CRD177 |
Ceroid Lipofuscinosis, Neuronal, 1 |
62 |
1367 |
|
HPT019 |
Hepatic Encephalopathy |
60 |
1368 |
|
AYM001 |
Ayme-Gripp Syndrome |
57 |
1369 |
c
|
CRD184 |
Ceroid Lipofuscinosis, Neuronal, 5 |
55 |
1370 |
P
|
MNN019 |
Mannosidosis, Beta a, Lysosomal |
51 |
1371 |
c
|
CRD185 |
Ceroid Lipofuscinosis, Neuronal, 6 |
49 |
1372 |
c
|
CRD179 |
Ceroid Lipofuscinosis, Neuronal, 7 |
48 |
1373 |
|
CRP033 |
Corpus Callosum, Agenesis of, with Abnormal Genitalia |
39 |
1374 |
|
ADL060 |
Adult Polyglucosan Body Disease |
36 |
1375 |
|
WYB002 |
Wyburn-Mason Syndrome |
30 |
1376 |
|
HYD052 |
Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia |
22 |
1377 |
|
MCR066 |
Microcephaly-Cardiomyopathy |
21 |
1378 |
|
NRP046 |
Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers |
21 |
1379 |
|
KNN010 |
Kennerknecht Syndrome |
20 |
1380 |
|
CYS040 |
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation |
19 |
1381 |
|
MCR306 |
Microcephaly-Deafness Syndrome |
19 |
1382 |
c
|
OST149 |
Osteolysis Syndrome, Recessive |
18 |
1383 |
|
MYT024 |
Myotonia with Skeletal Abnormalities and Mental Retardation |
18 |
1384 |
|
HYP686 |
Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies |
17 |
1385 |
|
WLM019 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome |
17 |
1386 |
|
CLB031 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
16 |
1387 |
|
FKY002 |
Fukuyama Type Muscular Dystrophy |
16 |
1388 |
|
CDL001 |
Caudal Appendage Deafness |
15 |
1389 |
|
KFF001 |
Kifafa Seizure Disorder |
14 |
1390 |
|
CMR005 |
Camera-Marugo-Cohen Syndrome |
12 |
1391 |
|
PRN067 |
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness |
10 |
1392 |
|
RMS002 |
Ramos Arroyo Clark Syndrome |
10 |
1393 |
P
|
PRM337 |
Primary Osteolysis |
8 |
1394 |
|
DSL004 |
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation |
8 |
1395 |
|
PFF002 |
Pfeiffer Kapferer Syndrome |
8 |
1396 |
|
ART113 |
Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability |
8 |
1397 |
|
XLN122 |
X-Linked Intellectual Disability - Short Stature - Obesity |
6 |
1398 |
|
RNL121 |
Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies |
5 |
1399 |
|
EMP013 |
Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation |
5 |
1400 |
|
BRN028 |
Brain Cancer |
74 |
1401 |
|
ANX010 |
Anxiety |
73 |
1402 |
P
|
SLP006 |
Sleep Apnea |
69 |
1403 |
P
|
MJR001 |
Major Depressive Disorder |
68 |
1404 |
|
PSY004 |
Psychotic Disorder |
67 |
1405 |
|
GLL008 |
Gilles De La Tourette Syndrome |
66 |
1406 |
P
|
ATT013 |
Attention Deficit-Hyperactivity Disorder |
65 |
1407 |
|
DMN031 |
Dementia, Lewy Body |
65 |
1408 |
P
|
PRS038 |
Personality Disorder |
65 |
1409 |
|
APN008 |
Apnea, Obstructive Sleep |
64 |
1410 |
P
|
GLC113 |
Galactosemia I |
64 |
1411 |
c
|
PRX045 |
Peroxisome Biogenesis Disorder 1b |
61 |
1412 |
|
PST028 |
Post-Traumatic Stress Disorder |
58 |
1413 |
|
DSS008 |
Disease of Mental Health |
58 |
1414 |
|
MNT002 |
Mental Depression |
58 |
1415 |
|
APH002 |
Aphasia |
57 |
1416 |
P
|
BPL003 |
Bipolar Disorder |
56 |
1417 |
c
|
GLC112 |
Galactosemia Iii |
56 |
1418 |
c
|
PRX059 |
Peroxisome Biogenesis Disorder 1a |
56 |
1419 |
P
|
AGN002 |
Agnosia |
55 |
1420 |
|
FRN051 |
Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related |
55 |
1421 |
P
|
PNC025 |
Panic Disorder |
53 |
1422 |
|
STT041 |
Stuttering |
52 |
1423 |
P
|
BSL038 |
Basal Ganglia Calcification, Idiopathic, 1 |
52 |
1424 |
P
|
NRD007 |
Neurodegeneration with Brain Iron Accumulation |
52 |
1425 |
c
|
NRD016 |
Neurodegeneration with Brain Iron Accumulation 6 |
51 |
1426 |
c
|
CNG208 |
Congenital Disorder of Glycosylation, Type Iic |
51 |
1427 |
|
TRC010 |
Trichotillomania |
51 |
1428 |
|
SCH012 |
Schizoaffective Disorder |
50 |
1429 |
c
|
HNT004 |
Huntington Disease-Like 2 |
50 |
1430 |
|
SMT006 |
Somatoform Disorder |
50 |
1431 |
c
|
MCR239 |
Microcephaly 5, Primary, Autosomal Recessive |
48 |
1432 |
|
HLS003 |
Helsmoortel-Van Der Aa Syndrome |
47 |
1433 |
c
|
BRD032 |
Bardet-Biedl Syndrome 14 |
47 |
1434 |
c
|
GLC111 |
Galactosemia Ii |
46 |
1435 |
|
CNV002 |
Conversion Disorder |
45 |
1436 |
c
|
NRD014 |
Neurodegeneration with Brain Iron Accumulation 4 |
45 |
1437 |
|
LRN001 |
Laurence-Moon Syndrome |
45 |
1438 |
|
MCR222 |
Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations |
44 |
1439 |
|
CHL012 |
Childhood Disintegrative Disease |
44 |
1440 |
|
VNC001 |
Von Economo's Disease |
44 |
1441 |
|
DCR008 |
Dicarboxylic Aminoaciduria |
43 |
1442 |
|
FRG010 |
Fragile X Tremor/ataxia Syndrome |
43 |
1443 |
|
NNS032 |
Non-Syndromic X-Linked Intellectual Disability |
43 |
1444 |
|
GLT018 |
Glut1 Deficiency Syndrome 1 |
43 |
1445 |
c
|
SPS095 |
Spastic Paraplegia 47, Autosomal Recessive |
42 |
1446 |
c
|
NRD009 |
Neurodegeneration with Brain Iron Accumulation 2b |
41 |
1447 |
P
|
PRR025 |
Perrault Syndrome |
41 |
1448 |
c
|
SCH056 |
Schizophrenia 15 |
41 |
1449 |
|
BSL009 |
Basal Ganglia Calcification |
41 |
1450 |
c
|
ATS383 |
Autosomal Dominant Non-Syndromic Intellectual Disability 1 |
41 |
1451 |
|
SYN089 |
Syndromic X-Linked Intellectual Disability Snyder Type |
39 |
1452 |
|
MNT237 |
Mental Retardation with Language Impairment and with or Without Autistic Features |
38 |
1453 |
c
|
SCH051 |
Schizophrenia 4 |
37 |
1454 |
c
|
MNT262 |
Mental Retardation, Autosomal Dominant 42 |
37 |
1455 |
c
|
PRX063 |
Peroxisome Biogenesis Disorder 2a |
36 |
1456 |
c
|
RBN008 |
Rubinstein-Taybi Syndrome 2 |
36 |
1457 |
c
|
PRX055 |
Peroxisome Biogenesis Disorder 11a |
36 |
1458 |
c
|
RHZ015 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
35 |
1459 |
c
|
MNT143 |
Mental Retardation, Autosomal Dominant 13 |
35 |
1460 |
c
|
SCH075 |
Schizophrenia 19 |
35 |
1461 |
c
|
PRX060 |
Peroxisome Biogenesis Disorder 5a |
34 |
1462 |
|
MCR025 |
Microhydranencephaly |
33 |
1463 |
c
|
MSC045 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 3 |
33 |
1464 |
c
|
SCH085 |
Schizophrenia 2 |
33 |
1465 |
c
|
MNT222 |
Mental Retardation, Autosomal Dominant 29 |
33 |
1466 |
c
|
PRX051 |
Peroxisome Biogenesis Disorder 6a |
33 |
1467 |
c
|
MSC166 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 8 |
33 |
1468 |
P
|
PRS013 |
Prosopagnosia |
33 |
1469 |
c
|
PRX054 |
Peroxisome Biogenesis Disorder 12a |
32 |
1470 |
c
|
PRR020 |
Perrault Syndrome 1 |
32 |
1471 |
c
|
SCH073 |
Schizophrenia 9 |
32 |
1472 |
c
|
MNT157 |
Mental Retardation, Autosomal Dominant 18 |
32 |
1473 |
c
|
PRX057 |
Peroxisome Biogenesis Disorder 4a |
31 |
1474 |
c
|
SCH087 |
Schizophrenia 18 |
31 |
1475 |
c
|
ATS384 |
Autosomal Dominant Non-Syndromic Intellectual Disability 2 |
31 |
1476 |
c
|
PRX048 |
Peroxisome Biogenesis Disorder 10a |
31 |
1477 |
c
|
PRX065 |
Peroxisome Biogenesis Disorder 3a |
30 |
1478 |
c
|
MSC043 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 |
30 |
1479 |
c
|
PRX050 |
Peroxisome Biogenesis Disorder 9b |
30 |
1480 |
c
|
MSC101 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 |
30 |
1481 |
c
|
PRX046 |
Peroxisome Biogenesis Disorder 7a |
29 |
1482 |
|
PRT055 |
Prieto X-Linked Mental Retardation Syndrome |
29 |
1483 |
c
|
PRX043 |
Peroxisome Biogenesis Disorder 6b |
29 |
1484 |
|
SYN092 |
Syndromic X-Linked Intellectual Disability Cabezas Type |
28 |
1485 |
c
|
MSC041 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 |
28 |
1486 |
|
CMB083 |
Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia |
28 |
1487 |
c
|
PRK081 |
Parkinson Disease 19a, Juvenile-Onset |
28 |
1488 |
c
|
PRX091 |
Peroxisome Biogenesis Disorder 8a |
27 |
1489 |
c
|
PRX052 |
Peroxisome Biogenesis Disorder 13a |
27 |
1490 |
c
|
PRX053 |
Peroxisome Biogenesis Disorder 14b |
27 |
1491 |
|
NRD028 |
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies |
27 |
1492 |
c
|
PRX058 |
Peroxisome Biogenesis Disorder 4b |
27 |
1493 |
c
|
MSC034 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 |
27 |
1494 |
c
|
PRX047 |
Peroxisome Biogenesis Disorder 5b |
27 |
1495 |
P
|
PRX064 |
Peroxisome Biogenesis Disorder 2b |
26 |
1496 |
|
VNS015 |
Van Esch-O'driscoll Syndrome |
26 |
1497 |
c
|
PRX066 |
Peroxisome Biogenesis Disorder 3b |
26 |
1498 |
|
URC006 |
Urocanase Deficiency |
25 |
1499 |
c
|
MSC107 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 10 |
25 |
1500 |
c
|
BSL046 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
25 |
1501 |
|
DSS025 |
Dissociative Seizures |
25 |
1502 |
c
|
PRX062 |
Peroxisome Biogenesis Disorder 8b |
25 |
1503 |
c
|
PRX056 |
Peroxisome Biogenesis Disorder 11b |
25 |
1504 |
c
|
PRR024 |
Perrault Syndrome 3 |
25 |
1505 |
c
|
BSL032 |
Basal Ganglia Calcification, Idiopathic, 4 |
24 |
1506 |
c
|
PRR021 |
Perrault Syndrome 4 |
24 |
1507 |
c
|
PRX068 |
Peroxisome Biogenesis Disorder 7b |
24 |
1508 |
c
|
BSL035 |
Basal Ganglia Calcification, Idiopathic, 5 |
24 |
1509 |
c
|
PRR022 |
Perrault Syndrome 2 |
24 |
1510 |
c
|
BSL039 |
Basal Ganglia Calcification, Idiopathic, 6 |
24 |
1511 |
|
DRG004 |
Drug-Induced Mental Disorder |
24 |
1512 |
c
|
MNT191 |
Mental Retardation, X-Linked, Syndromic 17 |
23 |
1513 |
c
|
ATS389 |
Autosomal Dominant Non-Syndromic Intellectual Disability 8 |
23 |
1514 |
c
|
PRR026 |
Perrault Syndrome 5 |
23 |
1515 |
c
|
BSL049 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
23 |
1516 |
c
|
ATS388 |
Autosomal Dominant Non-Syndromic Intellectual Disability 6 |
23 |
1517 |
c
|
NRD047 |
Neurodegeneration with Brain Iron Accumulation 7 |
23 |
1518 |
c
|
MNT325 |
Mental Retardation, Autosomal Recessive 61 |
22 |
1519 |
|
INT342 |
Intellectual Developmental Disorder, X-Linked 108 |
22 |
1520 |
c
|
NRD048 |
Neurodegeneration with Brain Iron Accumulation 8 |
21 |
1521 |
c
|
PRS058 |
Prosopagnosia, Hereditary |
21 |
1522 |
c
|
GLC115 |
Galactosemia Iv |
20 |
1523 |
c
|
PRX089 |
Peroxisome Biogenesis Disorder 10b |
20 |
1524 |
|
NRD025 |
Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations |
20 |
1525 |
c
|
PRR033 |
Perrault Syndrome 6 |
19 |
1526 |
c
|
PNC122 |
Panic Disorder 1 |
19 |
1527 |
|
MNT201 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
18 |
1528 |
c
|
MJR014 |
Major Depressive Disorder 2 |
18 |
1529 |
c
|
MJR013 |
Major Depressive Disorder 1 |
16 |
1530 |
|
ALC013 |
Alcohol-Induced Mental Disorder |
15 |
1531 |
c
|
ATT020 |
Attention Deficit-Hyperactivity Disorder 2 |
14 |
1532 |
|
ORG003 |
Organic Mood Syndrome |
14 |
1533 |
c
|
PNC070 |
Panic Disorder 2 |
13 |
1534 |
c
|
PNC068 |
Panic Disorder 3 |
12 |
1535 |
c
|
ATT019 |
Attention Deficit-Hyperactivity Disorder 1 |
11 |
1536 |
c
|
ATT022 |
Attention Deficit-Hyperactivity Disorder 4 |
11 |
1537 |
c
|
ATT021 |
Attention Deficit-Hyperactivity Disorder 3 |
11 |
1538 |
|
SYN081 |
Syndromic X-Linked Intellectual Disability Abidi Type |
9 |
1539 |
|
SYN093 |
Syndromic X-Linked Intellectual Disability Raymond Type |
7 |
1540 |
|
SYN091 |
Syndromic X-Linked Intellectual Disability Nascimento Type |
7 |
1541 |
|
MTH021 |
Methylmalonic Acidemia with Homocystinuria |
46 |
1542 |
|
ATX037 |
Ataxia-Deafness-Retardation Syndrome |
23 |
1543 |
|
MNT259 |
Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies |
22 |
1544 |
|
BDH001 |
Boudhina Yedes Khiari Syndrome |
8 |
1545 |
P
|
ALZ034 |
Alzheimer Disease |
88 |
1546 |
P
|
SCH015 |
Schizophrenia |
74 |
1547 |
|
OBS002 |
Obsessive-Compulsive Disorder |
68 |
1548 |
c
|
TYR012 |
Tyrosinemia, Type I |
66 |
1549 |
P
|
CFF008 |
Coffin-Siris Syndrome 1 |
63 |
1550 |
c
|
SPS215 |
Spastic Paraplegia 3, Autosomal Dominant |
61 |
1551 |
P
|
SLP005 |
Sleep Disorder |
59 |
1552 |
P
|
TYR004 |
Tyrosinemia |
58 |
1553 |
|
SCC001 |
Succinic Semialdehyde Dehydrogenase Deficiency |
58 |
1554 |
c
|
ALZ056 |
Alzheimer Disease 3 |
57 |
1555 |
P
|
FTL001 |
Fetal Alcohol Syndrome |
57 |
1556 |
P
|
RST001 |
Restless Legs Syndrome |
54 |
1557 |
P
|
CNG010 |
Congenital Stationary Night Blindness |
54 |
1558 |
c
|
NGH026 |
Night Blindness, Congenital Stationary, Type 1a |
52 |
1559 |
c
|
BRD014 |
Bardet-Biedl Syndrome 2 |
52 |
1560 |
c
|
ERL029 |
Early-Onset, Autosomal Dominant Alzheimer Disease |
51 |
1561 |
|
FRN013 |
Frontotemporal Dementia, Chromosome 3-Linked |
51 |
1562 |
|
SCH074 |
Schuurs-Hoeijmakers Syndrome |
49 |
1563 |
c
|
ALZ049 |
Alzheimer Disease 2 |
49 |
1564 |
c
|
ALZ054 |
Alzheimer Disease 4 |
49 |
1565 |
P
|
ASP001 |
Asperger Syndrome |
48 |
1566 |
P
|
SLL003 |
Salla Disease |
48 |
1567 |
c
|
PNT034 |
Pontocerebellar Hypoplasia, Type 2e |
48 |
1568 |
|
CHR174 |
Christianson Syndrome |
46 |
1569 |
P
|
PNT019 |
Pontocerebellar Hypoplasia |
46 |
1570 |
c
|
BRD016 |
Bardet-Biedl Syndrome 4 |
46 |
1571 |
P
|
LSS036 |
Lissencephaly, X-Linked, 1 |
45 |
1572 |
c
|
PNT036 |
Pontocerebellar Hypoplasia, Type 6 |
45 |
1573 |
|
WHT019 |
White-Sutton Syndrome |
44 |
1574 |
c
|
PNT018 |
Pontocerebellar Hypoplasia, Type 1b |
44 |
1575 |
c
|
NGH010 |
Night Blindness, Congenital Stationary, Autosomal Dominant 2 |
44 |
1576 |
c
|
MCR254 |
Microcephaly 4, Primary, Autosomal Recessive |
43 |
1577 |
c
|
PNT039 |
Pontocerebellar Hypoplasia, Type 7 |
43 |
1578 |
c
|
FTL006 |
Fetal Alcohol Spectrum Disorder |
43 |
1579 |
c
|
ALZ045 |
Alzheimer Disease 9 |
43 |
1580 |
c
|
CFF010 |
Coffin-Siris Syndrome 3 |
42 |
1581 |
c
|
CFF009 |
Coffin-Siris Syndrome 4 |
42 |
1582 |
c
|
PNT032 |
Pontocerebellar Hypoplasia, Type 9 |
41 |
1583 |
c
|
CFF007 |
Coffin-Siris Syndrome 2 |
41 |
1584 |
c
|
SPS103 |
Spastic Paraplegia 50, Autosomal Recessive |
41 |
1585 |
c
|
MNT242 |
Mental Retardation, Autosomal Dominant 40 |
41 |
1586 |
c
|
MCR255 |
Microcephaly 9, Primary, Autosomal Recessive |
41 |
1587 |
c
|
PNT044 |
Pontocerebellar Hypoplasia, Type 2a |
41 |
1588 |
c
|
PNT043 |
Pontocerebellar Hypoplasia, Type 4 |
40 |
1589 |
c
|
TYR011 |
Tyrosinemia, Type Iii |
40 |
1590 |
c
|
AMY069 |
Amyotrophic Lateral Sclerosis 21 |
40 |
1591 |
c
|
PNT037 |
Pontocerebellar Hypoplasia, Type 3 |
40 |
1592 |
|
TRN012 |
Transient Global Amnesia |
39 |
1593 |
c
|
PNT045 |
Pontocerebellar Hypoplasia, Type 1a |
39 |
1594 |
c
|
NGH024 |
Night Blindness, Congenital Stationary, Type 1h |
39 |
1595 |
|
CHR590 |
Chromosome 15q11-Q13 Duplication Syndrome |
39 |
1596 |
c
|
PNT010 |
Pontocerebellar Hypoplasia Type 1 |
39 |
1597 |
c
|
SPS122 |
Spastic Paraplegia 52, Autosomal Recessive |
38 |
1598 |
|
PRT052 |
Partington X-Linked Mental Retardation Syndrome |
38 |
1599 |
c
|
EPL038 |
Epileptic Encephalopathy, Early Infantile, 8 |
38 |
1600 |
c
|
MNT332 |
Mental Retardation, Autosomal Dominant 56 |
38 |
1601 |
c
|
PNT033 |
Pontocerebellar Hypoplasia, Type 10 |
37 |
1602 |
c
|
ALZ057 |
Alzheimer Disease 10 |
37 |
1603 |
c
|
NGH008 |
Night Blindness, Congenital Stationary, Autosomal Dominant 3 |
37 |
1604 |
c
|
MNT240 |
Mental Retardation, Autosomal Dominant 33 |
37 |
1605 |
c
|
NGH027 |
Night Blindness, Congenital Stationary, Type 1c |
37 |
1606 |
c
|
ALZ062 |
Alzheimer Disease 19 |
37 |
1607 |
c
|
NGH029 |
Night Blindness, Congenital Stationary, Type 1e |
37 |
1608 |
|
IMM056 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
36 |
1609 |
c
|
NGH025 |
Night Blindness, Congenital Stationary, Type 2a |
36 |
1610 |
c
|
LSS037 |
Lissencephaly, X-Linked, 2 |
35 |
1611 |
c
|
ALZ063 |
Alzheimer's Disease 1 |
34 |
1612 |
c
|
NGH021 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
34 |
1613 |
c
|
ALZ032 |
Alzheimer Disease 18 |
34 |
1614 |
c
|
RST012 |
Restless Legs Syndrome 1 |
34 |
1615 |
c
|
NGH007 |
Night Blindness, Congenital Stationary, Type 1b |
33 |
1616 |
c
|
ALZ058 |
Alzheimer Disease 11 |
32 |
1617 |
c
|
ATS387 |
Autosomal Dominant Non-Syndromic Intellectual Disability 5 |
32 |
1618 |
c
|
PNT030 |
Pontocerebellar Hypoplasia, Type 8 |
32 |
1619 |
c
|
MNT323 |
Mental Retardation, Autosomal Dominant 48 |
31 |
1620 |
c
|
MSC127 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 9 |
30 |
1621 |
c
|
ALZ050 |
Alzheimer Disease 5 |
30 |
1622 |
c
|
ATS385 |
Autosomal Dominant Non-Syndromic Intellectual Disability 3 |
30 |
1623 |
|
MLL023 |
Mullegama-Klein-Martinez Syndrome |
30 |
1624 |
c
|
ALZ061 |
Alzheimer Disease 15 |
30 |
1625 |
c
|
PNT046 |
Pontocerebellar Hypoplasia, Type 5 |
29 |
1626 |
c
|
MNT186 |
Mental Retardation, Autosomal Dominant 10 |
29 |
1627 |
c
|
ALZ031 |
Alzheimer Disease 17 |
29 |
1628 |
c
|
ALZ060 |
Alzheimer Disease 14 |
29 |
1629 |
c
|
MNT246 |
Mental Retardation, Autosomal Dominant 38 |
29 |
1630 |
c
|
ALZ015 |
Alzheimer Disease 6 |
29 |
1631 |
c
|
PNT050 |
Pontocerebellar Hypoplasia, Type 11 |
28 |
1632 |
c
|
ATS417 |
Autosomal Dominant Non-Syndromic Intellectual Disability 19 |
28 |
1633 |
c
|
PNT051 |
Pontocerebellar Hypoplasia, Type 1d |
27 |
1634 |
c
|
ALZ014 |
Alzheimer Disease 16 |
27 |
1635 |
c
|
PNT035 |
Pontocerebellar Hypoplasia, Type 1c |
27 |
1636 |
c
|
MNT219 |
Mental Retardation, Autosomal Dominant 30 |
27 |
1637 |
c
|
PNT047 |
Pontocerebellar Hypoplasia, Type 2b |
27 |
1638 |
c
|
ALZ012 |
Alzheimer Disease 12 |
27 |
1639 |
c
|
ALZ059 |
Alzheimer Disease 13 |
27 |
1640 |
c
|
ALZ016 |
Alzheimer Disease 8 |
26 |
1641 |
c
|
MNT272 |
Mental Retardation, Autosomal Dominant 41 |
26 |
1642 |
c
|
NGH028 |
Night Blindness, Congenital Stationary, Type 1d |
26 |
1643 |
c
|
MNT280 |
Mental Retardation, Autosomal Dominant 43 |
25 |
1644 |
c
|
ATS386 |
Autosomal Dominant Non-Syndromic Intellectual Disability 4 |
25 |
1645 |
c
|
NGH030 |
Night Blindness, Congenital Stationary, Type 1f |
25 |
1646 |
P
|
SYN064 |
Syndromic X-Linked Intellectual Disability |
25 |
1647 |
c
|
CFF012 |
Coffin-Siris Syndrome 7 |
24 |
1648 |
c
|
ALZ053 |
Alzheimer Disease 7 |
24 |
1649 |
|
SYN079 |
Syndromic X-Linked Intellectual Disability Siderius Type |
24 |
1650 |
c
|
MNT236 |
Mental Retardation, Autosomal Dominant 39 |
24 |
1651 |
c
|
MNT184 |
Mental Retardation, Autosomal Dominant 11 |
24 |
1652 |
c
|
CFF006 |
Coffin-Siris Syndrome 5 |
24 |
1653 |
c
|
RST020 |
Restless Legs Syndrome 6 |
24 |
1654 |
|
MLS013 |
Miles-Carpenter Syndrome |
24 |
1655 |
c
|
ATS168 |
Autosomal Dominant Congenital Stationary Night Blindness |
24 |
1656 |
c
|
MNT328 |
Mental Retardation, Autosomal Dominant 52 |
24 |
1657 |
c
|
CFF013 |
Coffin-Siris Syndrome 8 |
23 |
1658 |
c
|
ATS169 |
Autosomal Recessive Congenital Stationary Night Blindness |
23 |
1659 |
c
|
PLY181 |
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 |
23 |
1660 |
c
|
MNT238 |
Mental Retardation, Autosomal Dominant 34 |
23 |
1661 |
c
|
MNT329 |
Mental Retardation, Autosomal Dominant 53 |
23 |
1662 |
c
|
MNT294 |
Mental Retardation, X-Linked 106 |
23 |
1663 |
c
|
MNT326 |
Mental Retardation, Autosomal Dominant 50 |
23 |
1664 |
c
|
ASP032 |
Asperger Syndrome 1 |
23 |
1665 |
c
|
PNT048 |
Pontocerebellar Hypoplasia, Type 2c |
22 |
1666 |
c
|
PNT053 |
Pontocerebellar Hypoplasia, Type 13 |
22 |
1667 |
c
|
MNT330 |
Mental Retardation, Autosomal Dominant 54 |
22 |
1668 |
c
|
MNT286 |
Mental Retardation, Autosomal Dominant 45 |
22 |
1669 |
c
|
PNT052 |
Pontocerebellar Hypoplasia, Type 12 |
22 |
1670 |
c
|
MNT327 |
Mental Retardation, Autosomal Dominant 51 |
21 |
1671 |
c
|
ATS476 |
Autosomal Dominant Non-Syndromic Intellectual Disability 32 |
21 |
1672 |
c
|
CFF016 |
Coffin-Siris Syndrome 11 |
21 |
1673 |
|
ARM006 |
Armfield X-Linked Mental Retardation Syndrome |
21 |
1674 |
c
|
PNT042 |
Pontocerebellar Hypoplasia, Type 2f |
21 |
1675 |
c
|
CFF015 |
Coffin-Siris Syndrome 10 |
20 |
1676 |
c
|
ATS475 |
Autosomal Dominant Non-Syndromic Intellectual Disability 24 |
20 |
1677 |
c
|
ATS390 |
Autosomal Dominant Non-Syndromic Intellectual Disability 9 |
20 |
1678 |
|
PGN002 |
Paganini-Miozzo Syndrome |
20 |
1679 |
c
|
NGH022 |
Night Blindness, Congenital Stationary, Type 1g |
20 |
1680 |
c
|
MNT278 |
Mental Retardation, Autosomal Dominant 46 |
20 |
1681 |
c
|
SYN078 |
Syndromic X-Linked Intellectual Disability Type 10 |
19 |
1682 |
c
|
ASP031 |
Asperger Syndrome 2 |
17 |
1683 |
|
CRP036 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
16 |
1684 |
|
BSL048 |
Basilicata-Akhtar Syndrome |
15 |
1685 |
c
|
RST016 |
Restless Legs Syndrome 7 |
15 |
1686 |
c
|
EXS014 |
Exosc3-Related Pontocerebellar Hypoplasia |
14 |
1687 |
c
|
ATS422 |
Autosomal Dominant Non-Syndromic Intellectual Disability 27 |
13 |
1688 |
c
|
ASP033 |
Asperger Syndrome 3 |
13 |
1689 |
c
|
RST013 |
Restless Legs Syndrome 2 |
13 |
1690 |
c
|
RST014 |
Restless Legs Syndrome 3 |
13 |
1691 |
c
|
ATS477 |
Autosomal Dominant Non-Syndromic Intellectual Disability 44 |
13 |
1692 |
c
|
ASP034 |
Asperger Syndrome 4 |
12 |
1693 |
c
|
INT094 |
Intermediate Severe Salla Disease |
12 |
1694 |
c
|
RST015 |
Restless Legs Syndrome 4 |
12 |
1695 |
c
|
RST021 |
Restless Legs Syndrome 5 |
12 |
1696 |
|
SYN083 |
Syndromic X-Linked Intellectual Disability Shashi Type |
11 |
1697 |
c
|
RST019 |
Restless Legs Syndrome 8 |
11 |
1698 |
c
|
RRS011 |
Rare Sleep Disorder |
11 |
1699 |
c
|
ATS394 |
Autosomal Dominant Mental Retardation 55 |
5 |
1700 |
|
SYN094 |
Syndromic X-Linked Mental Retardation Hough Type |
3 |
1701 |
P
|
RTT002 |
Rett Syndrome |
80 |
1702 |
c
|
EPL184 |
Epileptic Encephalopathy, Early Infantile, 6 |
70 |
1703 |
c
|
NRD033 |
Neurodegeneration with Brain Iron Accumulation 2a |
69 |
1704 |
|
PCK003 |
Pick Disease of Brain |
68 |
1705 |
P
|
FRN006 |
Frontotemporal Dementia |
68 |
1706 |
P
|
ORT004 |
Orthostatic Intolerance |
62 |
1707 |
|
SBC001 |
Subacute Sclerosing Panencephalitis |
56 |
1708 |
|
LBS001 |
Lubs X-Linked Mental Retardation Syndrome |
51 |
1709 |
c
|
CRD182 |
Ceroid Lipofuscinosis, Neuronal, 10 |
50 |
1710 |
c
|
BRD018 |
Bardet-Biedl Syndrome 6 |
49 |
1711 |
|
RNP003 |
Renpenning Syndrome 1 |
49 |
1712 |
|
PTC002 |
Potocki-Lupski Syndrome |
48 |
1713 |
c
|
PRK085 |
Parkinson Disease 1, Autosomal Dominant |
47 |
1714 |
|
MHM001 |
Mehmo Syndrome |
47 |
1715 |
|
KRT013 |
Keratolytic Winter Erythema |
46 |
1716 |
P
|
HYP111 |
Hyperprolinemia |
44 |
1717 |
|
ADN022 |
Adenylosuccinase Deficiency |
44 |
1718 |
c
|
HYP597 |
Hyperprolinemia, Type Ii |
43 |
1719 |
|
CHR594 |
Chromosome 3q29 Deletion Syndrome |
42 |
1720 |
c
|
HYP248 |
Hyperprolinemia, Type I |
41 |
1721 |
c
|
MNT245 |
Mental Retardation, Autosomal Dominant 36 |
41 |
1722 |
|
GLT019 |
Glut1 Deficiency Syndrome 2 |
40 |
1723 |
P
|
ADV001 |
Advanced Sleep Phase Syndrome |
40 |
1724 |
c
|
ATS203 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
36 |
1725 |
|
AMN007 |
Aminoacylase 1 Deficiency |
36 |
1726 |
|
KLV001 |
Kluver-Bucy Syndrome |
34 |
1727 |
c
|
MNT226 |
Mental Retardation, Autosomal Dominant 31 |
33 |
1728 |
c
|
MNT158 |
Mental Retardation, Autosomal Dominant 22 |
30 |
1729 |
c
|
RTT008 |
Rett Syndrome, Congenital Variant |
30 |
1730 |
P
|
ENC054 |
Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations |
30 |
1731 |
|
HYP530 |
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity |
30 |
1732 |
c
|
MNT296 |
Mental Retardation, X-Linked, Syndromic 34 |
29 |
1733 |
c
|
CHR344 |
Chronic Orthostatic Intolerance |
17 |
1734 |
c
|
SYN056 |
Syndromic X-Linked Intellectual Disability 7 |
16 |
1735 |
c
|
MCP022 |
Mecp2-Related Severe Neonatal Encephalopathy |
13 |
1736 |
|
KFM001 |
Kaufman Oculocerebrofacial Syndrome |
56 |
1737 |
c
|
CRD183 |
Ceroid Lipofuscinosis, Neuronal, 2 |
55 |
1738 |
P
|
CRB154 |
Cerebrocostomandibular Syndrome |
55 |
1739 |
P
|
MCR240 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
54 |
1740 |
|
CRB150 |
Cerebral Creatine Deficiency Syndrome 2 |
53 |
1741 |
P
|
RHZ001 |
Rhizomelic Chondrodysplasia Punctata |
53 |
1742 |
c
|
MCR258 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
53 |
1743 |
P
|
D2H002 |
D-2-Hydroxyglutaric Aciduria 1 |
52 |
1744 |
|
AGN003 |
Agenesis of the Corpus Callosum with Peripheral Neuropathy |
52 |
1745 |
c
|
SPS125 |
Spastic Paraplegia 15, Autosomal Recessive |
49 |
1746 |
c
|
L2H001 |
L-2-Hydroxyglutaric Aciduria |
49 |
1747 |
|
PTT059 |
Pettigrew Syndrome |
49 |
1748 |
P
|
MNT135 |
Mental Retardation, X-Linked, Syndromic 13 |
47 |
1749 |
c
|
SPL067 |
Split-Hand/foot Malformation 1 |
46 |
1750 |
|
MNT046 |
Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia |
46 |
1751 |
c
|
SPL024 |
Split-Hand/foot Malformation 3 |
45 |
1752 |
|
MNT229 |
Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance |
45 |
1753 |
c
|
ATS204 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
44 |
1754 |
c
|
BRD019 |
Bardet-Biedl Syndrome 7 |
43 |
1755 |
c
|
CRD181 |
Ceroid Lipofuscinosis, Neuronal, 8 |
43 |
1756 |
|
KLN009 |
Kleine-Levin Hibernation Syndrome |
42 |
1757 |
c
|
CRT070 |
Cortical Dysplasia, Complex, with Other Brain Malformations 1 |
41 |
1758 |
P
|
SPL061 |
Split Hand-Foot Malformation |
40 |
1759 |
|
MNT192 |
Mental Retardation, X-Linked, Syndromic, Hedera Type |
40 |
1760 |
c
|
2HY001 |
2-Hydroxyglutaric Aciduria |
38 |
1761 |
c
|
CRT089 |
Cortical Dysplasia, Complex, with Other Brain Malformations 10 |
36 |
1762 |
|
MTH026 |
Methemoglobinemia Due to Deficiency of Methemoglobin Reductase |
36 |
1763 |
c
|
MNT179 |
Mental Retardation, Autosomal Dominant 21 |
35 |
1764 |
c
|
D2H003 |
D-2-Hydroxyglutaric Aciduria 2 |
34 |
1765 |
|
CLR029 |
Clark-Baraitser Syndrome |
33 |
1766 |
|
PRK087 |
Parkinson-Dementia Syndrome |
33 |
1767 |
c
|
SPL070 |
Split-Hand/foot Malformation 2 |
32 |
1768 |
c
|
CRT067 |
Cortical Dysplasia, Complex, with Other Brain Malformations 2 |
32 |
1769 |
c
|
SPL025 |
Split-Hand/foot Malformation 5 |
31 |
1770 |
c
|
CRT081 |
Cortical Dysplasia, Complex, with Other Brain Malformations 7 |
31 |
1771 |
c
|
MNT239 |
Mental Retardation, Autosomal Dominant 35 |
30 |
1772 |
c
|
CRT082 |
Cortical Dysplasia, Complex, with Other Brain Malformations 8 |
27 |
1773 |
|
SYN090 |
Syndromic X-Linked Intellectual Disability Turner Type |
25 |
1774 |
c
|
CRT074 |
Cortical Dysplasia, Complex, with Other Brain Malformations 6 |
25 |
1775 |
c
|
MCR331 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
24 |
1776 |
c
|
MNT207 |
Mental Retardation, X-Linked, Syndromic 32 |
24 |
1777 |
c
|
CRT073 |
Cortical Dysplasia, Complex, with Other Brain Malformations 5 |
24 |
1778 |
c
|
CRT068 |
Cortical Dysplasia, Complex, with Other Brain Malformations 3 |
23 |
1779 |
c
|
CRT071 |
Cortical Dysplasia, Complex, with Other Brain Malformations 4 |
22 |
1780 |
c
|
CRT087 |
Cortical Dysplasia, Complex, with Other Brain Malformations 9 |
21 |
1781 |
P
|
CMP082 |
Complex Cortical Dysplasia with Other Brain Malformations |
21 |
1782 |
c
|
MNT197 |
Mental Retardation, X-Linked, Syndromic 9 |
18 |
1783 |
c
|
CRB078 |
Cerebrocostomandibular-Like Syndrome |
7 |
1784 |
|
SND001 |
Sandhoff Disease |
68 |
1785 |
|
ART002 |
Arts Syndrome |
64 |
1786 |
|
DHY002 |
Dihydropyrimidine Dehydrogenase Deficiency |
58 |
1787 |
c
|
RHZ011 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
52 |
1788 |
P
|
MNT185 |
Mental Retardation, Autosomal Dominant 7 |
45 |
1789 |
|
MNT228 |
Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type |
40 |
1790 |
|
LTH002 |
Lathosterolosis |
40 |
1791 |
|
DGL002 |
D-Glyceric Aciduria |
39 |
1792 |
c
|
MNT212 |
Mental Retardation, Autosomal Dominant 26 |
36 |
1793 |
|
MNT146 |
Mental Retardation, X-Linked, Syndromic, Martin-Probst Type |
34 |
1794 |
|
SHH004 |
Shaheen Syndrome |
32 |
1795 |
c
|
MNT258 |
Mental Retardation, X-Linked, Syndromic, Wu Type |
32 |
1796 |
c
|
MNT211 |
Mental Retardation, Autosomal Dominant 23 |
29 |
1797 |
|
ALP041 |
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome |
51 |
1798 |
|
BRJ001 |
Borjeson-Forssman-Lehmann Syndrome |
49 |
1799 |
P
|
STR001 |
Striatonigral Degeneration |
39 |
1800 |
c
|
STR085 |
Striatonigral Degeneration, Infantile |
33 |
1801 |
c
|
MNT298 |
Mental Retardation, X-Linked, Syndromic, 35 |
28 |
1802 |
c
|
MNT279 |
Mental Retardation, Autosomal Dominant 47 |
26 |
1803 |
|
WLS003 |
Wilson-Turner X-Linked Mental Retardation Syndrome |
49 |
1804 |
|
DFN270 |
Deafness, Dystonia, and Cerebral Hypomyelination |
48 |