Mental Diseases Category (2991 diseases)


Including: anxiety, mood, dementia, psychotic, mental, dissociative, personality, bipolar, paranoid
See other categories (disease lists)

# Family MCID Name MIFTS
1 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 62
2 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 43
3 c INT414 Intellectual Developmental Disorder, X-Linked 29 35
4 P INT404 Intellectual Developmental Disorder, X-Linked, Syndromic 13 35
5 c INT407 Intellectual Developmental Disorder, X-Linked, Syndromic 11 25
6 INT422 Intellectual Developmental Disorder with Microcephaly and Pontine and Cerebellar Hypoplasia 38
7 P KHL003 Kohlschutter-Tonz Syndrome 57
8 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 46
9 INT412 Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type 40
10 NRD151 Neurodevelopmental Disorder with or Without Hypotonia, Seizures, and Cerebellar Atrophy 39
11 INT410 Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type 32
12 c FCL027 Focal Segmental Glomerulosclerosis 3 33
13 P FCL005 Focal Segmental Glomerulosclerosis 59
14 c FCL082 Focal Segmental Glomerulosclerosis 4 20
15 c DVL030 Developmental and Epileptic Encephalopathy 36 61
16 c DVL027 Developmental and Epileptic Encephalopathy 9 52
17 c DVL103 Developmental and Epileptic Encephalopathy 80 39
18 c DVL097 Developmental and Epileptic Encephalopathy 73 36
19 INT408 Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type 33
20 c INT436 Intellectual Developmental Disorder, X-Linked, Syndromic 34 29
21 c DVL104 Developmental and Epileptic Encephalopathy 81 26
22 c INT424 Intellectual Developmental Disorder, X-Linked 97 24
23 c FCL025 Focal Segmental Glomerulosclerosis 1 47
24 c DVL100 Developmental and Epileptic Encephalopathy 76 40
25 c FRN060 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 6 33
26 ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 26
27 c DVL035 Developmental and Epileptic Encephalopathy 4 47
28 INT418 Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type 33
29 c INT435 Intellectual Developmental Disorder, X-Linked, Syndromic 33 30
30 INT415 Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type 29
31 NRD150 Neurodevelopmental Disorder with Hypotonia, Impaired Language, and Dysmorphic Features 26
32 INT371 Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type 23
33 DRV001 Dravet Syndrome 71
34 CNG437 Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay 42
35 CRB228 Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities 32
36 c INT384 Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type 30
37 DYS181 Dyssegmental Dysplasia with Glaucoma 24
38 c DVL041 Developmental and Epileptic Encephalopathy 13 50
39 P SPN202 Spinocerebellar Ataxia, X-Linked 1 46
40 DVL146 Developmental and Epileptic Encephalopathy 39 with Leukodystrophy 45
41 c FCL026 Focal Segmental Glomerulosclerosis 2 40
42 c FCL028 Focal Segmental Glomerulosclerosis 5 39
43 c DVL053 Developmental and Epileptic Encephalopathy 27 38
44 c FCL085 Focal Segmental Glomerulosclerosis 7 37
45 c DVL055 Developmental and Epileptic Encephalopathy 29 37
46 c FCL043 Focal Segmental Glomerulosclerosis 6 37
47 c SPN363 Spinocerebellar Ataxia, X-Linked 4 35
48 CHN077 Chung-Jansen Syndrome 34
49 c DVL054 Developmental and Epileptic Encephalopathy 28 34
50 c SYN073 Syngap1-Related Intellectual Disability 32
51 c SPN203 Spinocerebellar Ataxia, X-Linked 5 29
52 c DVL058 Developmental and Epileptic Encephalopathy 32 28
53 BKR002 Baker-Gordon Syndrome 28
54 c DVL083 Developmental and Epileptic Encephalopathy 59 26
55 INT405 Intellectual Developmental Disorder, X-Linked, with Panhypopituitarism 24
56 c DVL096 Developmental and Epileptic Encephalopathy 72 24
57 c SPN403 Spinocerebellar Ataxia, X-Linked 2 20
58 INT488 Intellectual Developmental Disorder, X-Linked, Syndromic, Abidi Type 20
59 c INT429 Intellectual Developmental Disorder, X-Linked, Syndromic 32 19
60 c INT470 Intellectual Developmental Disorder, X-Linked, Syndromic 7 17
61 c INT500 Intellectual Developmental Disorder, X-Linked, Syndromic 17 16
62 INT501 Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type 16
63 c CRB193 Cerebral Amyloid Angiopathy, App-Related 57
64 c DVL033 Developmental and Epileptic Encephalopathy 1 57
65 c DVL039 Developmental and Epileptic Encephalopathy 11 45
66 c FRN045 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 42
67 c DVL045 Developmental and Epileptic Encephalopathy 17 40
68 PRP093 Pierpont Syndrome 38
69 c INT403 Intellectual Developmental Disorder, X-Linked 21 34
70 MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 32
71 c FCL053 Focal Segmental Glomerulosclerosis 8 32
72 c FCL055 Focal Segmental Glomerulosclerosis 9 31
73 INT441 Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type 29
74 INT518 Intellectual Developmental Disorder, Autosomal Dominant 6, with or Without Seizures 29
75 FRN030 Frontotemporal Dementia with Parkinsonism-17 28
76 c INT434 Intellectual Developmental Disorder, X-Linked 12 28
77 INT383 Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type 25
78 c AMY104 Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia 24
79 INT570 Intellectual Developmental Disorder with Language Impairment and with or Without Autistic Features 24
80 c INT387 Intellectual Developmental Disorder, Autosomal Dominant 60, with Seizures 22
81 c AMY099 Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia 18
82 DNT005 Dentatorubral-Pallidoluysian Atrophy 55
83 P DVL012 Developmental Dysplasia of the Hip 1 39
84 MCR064 Microcephaly, Seizures, and Developmental Delay 38
85 HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 37
86 c INT446 Intellectual Developmental Disorder, X-Linked 1 35
87 c AMY105 Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia 32
88 c DVL129 Developmental and Epileptic Encephalopathy 25 31
89 SHR124 Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures 31
90 c INT419 Intellectual Developmental Disorder, X-Linked 30 30
91 c INT420 Intellectual Developmental Disorder, X-Linked 93 27
92 c INT431 Intellectual Developmental Disorder, X-Linked 99 27
93 c INT439 Intellectual Developmental Disorder, X-Linked 104 26
94 c INT421 Intellectual Developmental Disorder, X-Linked, Syndromic 14 25
95 c DVL106 Developmental and Epileptic Encephalopathy 83 25
96 c INT442 Intellectual Developmental Disorder, X-Linked 106 25
97 AMY102 Amyotrophic Lateral Sclerosis, Juvenile, with Dementia 24
98 c INT575 Intellectual Developmental Disorder, Autosomal Dominant 67 22
99 c INT438 Intellectual Developmental Disorder, X-Linked 103 22
100 c INT445 Intellectual Developmental Disorder, X-Linked 107 21
101 INT482 Intellectual Developmental Disorder, Fra12a Type 21
102 INT444 Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type 21
103 c INT423 Intellectual Developmental Disorder, X-Linked 96 21
104 c AMY114 Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal Dementia 20
105 c INT440 Intellectual Developmental Disorder, X-Linked 105 19
106 c INT433 Intellectual Developmental Disorder, X-Linked 101 19
107 c INT432 Intellectual Developmental Disorder, X-Linked 100 17
108 EPL170 Epilepsy-Aphasia Spectrum 17
109 MTH089 Methylmalonic Aciduria and Homocystinuria, Cblx Type 48
110 c DVL048 Developmental and Epileptic Encephalopathy 21 45
111 c DVL056 Developmental and Epileptic Encephalopathy 30 44
112 c DVL068 Developmental and Epileptic Encephalopathy 43 44
113 CNG501 Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder 44
114 c DVL099 Developmental and Epileptic Encephalopathy 75 43
115 c DVL067 Developmental and Epileptic Encephalopathy 42 43
116 c DVL044 Developmental and Epileptic Encephalopathy 16 43
117 c DVL077 Developmental and Epileptic Encephalopathy 53 42
118 c DVL076 Developmental and Epileptic Encephalopathy 52 42
119 c DVL072 Developmental and Epileptic Encephalopathy 47 41
120 c MLT179 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 40
121 c DVL064 Developmental and Epileptic Encephalopathy 38 40
122 c DVL061 Developmental and Epileptic Encephalopathy 34 39
123 c DVL098 Developmental and Epileptic Encephalopathy 74 39
124 c DVL052 Developmental and Epileptic Encephalopathy 26 39
125 c DVL073 Developmental and Epileptic Encephalopathy 48 38
126 c DVL109 Developmental and Epileptic Encephalopathy 87 38
127 c DVL060 Developmental and Epileptic Encephalopathy 50 38
128 P PRR032 Pura-Related Neurodevelopmental Disorders 37
129 c DVL078 Developmental and Epileptic Encephalopathy 54 36
130 c DVL079 Developmental and Epileptic Encephalopathy 55 36
131 c DVL069 Developmental and Epileptic Encephalopathy 44 36
132 WSM002 Waisman Syndrome 36
133 c DVL059 Developmental and Epileptic Encephalopathy 33 34
134 c DVL090 Developmental and Epileptic Encephalopathy 66 34
135 c DVL057 Developmental and Epileptic Encephalopathy 31 34
136 c DVL089 Developmental and Epileptic Encephalopathy 65 33
137 SNJ002 Snijders Blok-Campeau Syndrome 33
138 c DVL084 Developmental and Epileptic Encephalopathy 60 33
139 c DVL063 Developmental and Epileptic Encephalopathy 37 30
140 c DVL107 Developmental and Epileptic Encephalopathy 84 30
141 c DVL080 Developmental and Epileptic Encephalopathy 56 28
142 DMN026 Dementia Pugilistica 28
143 c DVL071 Developmental and Epileptic Encephalopathy 46 28
144 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 28
145 INT312 Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 28
146 INT337 Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies 27
147 c DVL066 Developmental and Epileptic Encephalopathy 41 27
148 c DVL094 Developmental and Epileptic Encephalopathy 70 27
149 c DVL093 Developmental and Epileptic Encephalopathy 69 27
150 c DVL086 Developmental and Epileptic Encephalopathy 62 27
151 c DVL074 Developmental and Epileptic Encephalopathy 49 27
152 c DVL101 Developmental and Epileptic Encephalopathy 78 27
153 c DVL092 Developmental and Epileptic Encephalopathy 68 26
154 FCL088 Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, and Gingival Overgrowth Syndrome 26
155 c DVL091 Developmental and Epileptic Encephalopathy 67 26
156 c DVL075 Developmental and Epileptic Encephalopathy 51 26
157 c DVL070 Developmental and Epileptic Encephalopathy 45 26
158 c DVL081 Developmental and Epileptic Encephalopathy 57 25
159 INT416 Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type 25
160 c DVL102 Developmental and Epileptic Encephalopathy 79 25
161 c DVL105 Developmental and Epileptic Encephalopathy 82 25
162 c DVL085 Developmental and Epileptic Encephalopathy 61 25
163 c DVL087 Developmental and Epileptic Encephalopathy 63 24
164 c DVL110 Developmental and Epileptic Encephalopathy 88 24
165 c DVL095 Developmental and Epileptic Encephalopathy 71 24
166 c DVL065 Developmental and Epileptic Encephalopathy 40 24
167 c DVL082 Developmental and Epileptic Encephalopathy 58 23
168 INT459 Intellectual Developmental Disorder, Autosomal Recessive 34, with Variant Lissencephaly 22
169 c INT498 Intellectual Developmental Disorder, X-Linked, Syndromic 9 18
170 c GRN052 Grin2b-Related Neurodevelopmental Disorder 16
171 c INT489 Intellectual Developmental Disorder, X-Linked 53 14
172 c ATN031 Atn1-Related Neurodevelopmental Disorder 10
173 DRM001 Dermal Unilateral Segmental Cavernous Angioma 6
174 c DVL038 Developmental and Epileptic Encephalopathy 7 54
175 c DVL029 Developmental and Epileptic Encephalopathy 2 53
176 c DVL037 Developmental and Epileptic Encephalopathy 5 42
177 c DVL049 Developmental and Epileptic Encephalopathy 23 42
178 OKR001 Okur-Chung Neurodevelopmental Syndrome 41
179 c DVL034 Developmental and Epileptic Encephalopathy 3 39
180 c DVL028 Developmental and Epileptic Encephalopathy 8 39
181 c DVL040 Developmental and Epileptic Encephalopathy 12 39
182 BLB005 Beaulieu-Boycott-Innes Syndrome 38
183 P ATS366 Autism X-Linked 2 37
184 c DVL050 Developmental and Epileptic Encephalopathy 24 37
185 INT313 Intellectual Developmental Disorder with Cardiac Arrhythmia 34
186 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 32
187 c DVL046 Developmental and Epileptic Encephalopathy 18 32
188 c DVL119 Developmental and Epileptic Encephalopathy 6b 31
189 CLF048 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 29
190 INT437 Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted 28
191 c DVL088 Developmental and Epileptic Encephalopathy 64 27
192 c DVL047 Developmental and Epileptic Encephalopathy 19 27
193 HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 26
194 c INT393 Intellectual Developmental Disorder, Autosomal Dominant 64 26
195 c DVL032 Developmental and Epileptic Encephalopathy 90 25
196 INT378 Intellectual Developmental Disorder with Autistic Features and Language Delay, with or Without Seizures 25
197 c INT400 Intellectual Developmental Disorder, Autosomal Dominant 65 24
198 c INT385 Intellectual Developmental Disorder, Autosomal Dominant 61 24
199 INT451 Intellectual Developmental Disorder, X-Linked, Syndromic, with Pigmentary Mosaicism and Coarse Facies 24
200 INT374 Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or Without Seizures 23
201 INT329 Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities 23
202 c DVL124 Developmental and Epileptic Encephalopathy 97 22
203 NRD071 Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements 22
204 INT502 Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type 22
205 NRD090 Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements 21
206 c DVL108 Developmental and Epileptic Encephalopathy 86 21
207 RDL027 Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome 18
208 NVL002 Novelty Seeking Personality Trait 15
209 LRN006 Laurin-Sandrow Syndrome 52
210 P DVL113 Developmental and Epileptic Encephalopathy 51
211 c DBT104 Diabetes Mellitus, Permanent Neonatal, 1 51
212 P PRM030 Permanent Neonatal Diabetes Mellitus 51
213 GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 46
214 GRS001 Gerstmann Syndrome 42
215 BRK002 Birk-Barel Syndrome 39
216 c MJR023 Major Affective Disorder 7 39
217 P PRS013 Prosopagnosia 39
218 MLT001 Multiple Chemical Sensitivity 39
219 INT372 Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type 38
220 c DVL043 Developmental and Epileptic Encephalopathy 15 38
221 TMP011 Temple-Baraitser Syndrome 36
222 CMB076 Combined Oxidative Phosphorylation Deficiency 31 35
223 DVL123 Developmental and Epileptic Encephalopathy 25 with Amelogenesis Imperfecta 30
224 c DBT107 Diabetes Mellitus, Permanent Neonatal, 4 29
225 INT328 Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities 29
226 c PRS058 Prosopagnosia, Hereditary 28
227 c INT566 Intellectual Developmental Disorder, Autosomal Dominant 58 27
228 CRN275 Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome 26
229 c INT447 Intellectual Developmental Disorder, X-Linked 9 26
230 INT365 Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 26
231 KCN019 Kcnk9 Imprinting Syndrome 25
232 P DVL137 Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 1 25
233 NRD052 Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures 25
234 c INT413 Intellectual Developmental Disorder, X-Linked 63 25
235 NRD086 Neurodevelopmental Disorder with Behavioral Abnormalities, Absent Speech, and Hypotonia 25
236 INT389 Intellectual Developmental Disorder with Seizures and Language Delay 25
237 c INT388 Intellectual Developmental Disorder, Autosomal Dominant 62 25
238 c INT426 Intellectual Developmental Disorder, X-Linked 41 24
239 INT377 Intellectual Developmental Disorder, Autosomal Dominant 63, with Macrocephaly 23
240 DYS179 Dyssegmental Dysplasia, Rolland-Desbuquois Type 23
241 NRD063 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 23
242 c INT406 Intellectual Developmental Disorder, X-Linked 58 22
243 NRD060 Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 22
244 STB004 Setbp1 Haploinsufficiency Disorder 22
245 c INT386 Intellectual Developmental Disorder, Autosomal Dominant 59 21
246 c INT577 Intellectual Developmental Disorder, Autosomal Dominant 68 21
247 c INT573 Intellectual Developmental Disorder, Autosomal Dominant 66 21
248 c INT496 Intellectual Developmental Disorder, X-Linked 45 20
249 CRP038 Corpus Callosum, Agenesis of, with Impaired Intellectual Development, Ocular Coloboma, and Micrognathia 20
250 c DVL142 Developmental and Epileptic Encephalopathy 107 19
251 DVL005 Developmental Dyspraxia 19
252 INT343 Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects 18
253 c INT499 Intellectual Developmental Disorder, X-Linked 95 15
254 c INT572 Intellectual Developmental Disorder, Autosomal Dominant 69 15
255 c AMY091 Amyotrophic Lateral Sclerosis 1 87
256 P PRK057 Parkinson Disease, Late-Onset 81
257 P HYP086 Hypothyroidism 68
258 c CNG006 Congenital Hypothyroidism 64
259 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 62
260 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 55
261 c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 51
262 c HRD173 Hereditary Late-Onset Parkinson Disease 51
263 c PRK071 Parkinson Disease 14, Autosomal Recessive 48
264 OGD001 Ogden Syndrome 48
265 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 47
266 c AMY069 Amyotrophic Lateral Sclerosis 21 47
267 c AMY090 Amyotrophic Lateral Sclerosis 8 46
268 c PRK065 Parkinson Disease 20, Early-Onset 45
269 c PRK093 Parkinson Disease 8, Autosomal Dominant 44
270 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 44
271 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 43
272 c PRK052 Parkinson Disease 17 43
273 c AMY083 Amyotrophic Lateral Sclerosis 11 42
274 MST006 Mast Syndrome 41
275 CHR662 Chromosome 15q13.3 Deletion Syndrome 41
276 c PRK091 Parkinson Disease 4, Autosomal Dominant 41
277 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 41
278 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 41
279 c PRK090 Parkinson Disease 3, Autosomal Dominant 39
280 c AMY088 Amyotrophic Lateral Sclerosis 3 38
281 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 38
282 c MJR008 Major Affective Disorder 2 38
283 c ERL056 Early-Onset Parkinson's Disease 38
284 c AMY059 Amyotrophic Lateral Sclerosis 19 37
285 c MJR024 Major Affective Disorder 9 37
286 c AMY067 Amyotrophic Lateral Sclerosis 18 37
287 c PRK070 Parkinson Disease 21 35
288 c MJR022 Major Affective Disorder 8 34
289 c MJR004 Major Affective Disorder 4 34
290 c MJR003 Major Affective Disorder 6 34
291 c MJR006 Major Affective Disorder 5 34
292 c AMY085 Amyotrophic Lateral Sclerosis 9 33
293 HFN001 Hao-Fountain Syndrome 33
294 c AMY022 Amyotrophic Lateral Sclerosis Type 5 33
295 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 32
296 c AMY081 Amyotrophic Lateral Sclerosis Type 12 32
297 SZR027 Seizures, Cortical Blindness, and Microcephaly Syndrome 32
298 c AMY063 Amyotrophic Lateral Sclerosis 20 32
299 c DVL114 Developmental and Epileptic Encephalopathy 91 31
300 c AMY113 Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal Dementia 31
301 c PRK081 Parkinson Disease 19a, Juvenile-Onset 30
302 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 28
303 SPS207 Spastic Paraplegia and Psychomotor Retardation with or Without Seizures 28
304 c DVL112 Developmental and Epileptic Encephalopathy 89 28
305 c PRK083 Parkinson Disease 22, Autosomal Dominant 27
306 c DVL116 Developmental and Epileptic Encephalopathy 93 27
307 c PRK098 Parkinson Disease 5, Autosomal Dominant 27
308 c AMY074 Amyotrophic Lateral Sclerosis Type 14 26
309 c CNT101 Central Congenital Hypothyroidism 26
310 c DVL115 Developmental and Epileptic Encephalopathy 92 26
311 c PRK099 Parkinson Disease 18, Autosomal Dominant 26
312 PLR024 Pilarowski-Bjornsson Syndrome 25
313 c PRK094 Parkinson Disease 11, Autosomal Dominant 24
314 c PRK096 Parkinson Disease 13, Autosomal Dominant 24
315 c JVN058 Juvenile-Onset Parkinson's Disease 24
316 c AMY089 Amyotrophic Lateral Sclerosis 7 24
317 c AMY110 Amyotrophic Lateral Sclerosis 24 23
318 c AMY108 Amyotrophic Lateral Sclerosis 23 22
319 PCH022 Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures 22
320 INT311 Intellectual Developmental Disorder with Neuropsychiatric Features 21
321 c FRN061 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8 21
322 c PRK104 Parkinson Disease 24, Autosomal Dominant 21
323 c AMY112 Amyotrophic Lateral Sclerosis 25 20
324 c PRK025 Parkinson Disease 10 20
325 c PRK058 Parkinson Disease 16 20
326 c PRM316 Primary Congenital Hypothyroidism 19
327 SPN347 Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 17
328 ZRS001 Zori Stalker Williams Syndrome 17
329 c INT485 Intellectual Developmental Disorder, X-Linked 23 17
330 c PRK022 Parkinson Disease 12 16
331 c TRN047 Transient Congenital Hypothyroidism 16
332 c INT490 Intellectual Developmental Disorder, X-Linked 73 16
333 c INT503 Intellectual Developmental Disorder, X-Linked, Syndromic 12 15
334 c INT495 Intellectual Developmental Disorder, X-Linked 77 15
335 c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 14
336 c INT497 Intellectual Developmental Disorder, X-Linked 84 14
337 c CNG543 Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies 14
338 c INT528 Intellectual Developmental Disorder, Autosomal Recessive 19 14
339 c INT493 Intellectual Developmental Disorder, X-Linked 81 13
340 c VPS003 Vps35-Related Parkinson Disease 12
341 c RRH009 Rare Hypothyroidism 12
342 CHM008 Chmp2b Frontotemporal Dementia 11
343 c GNB002 Gnb5-Related Neurodevelopmental Disorder 11
344 c HNR003 Hnrnpu-Related Neurodevelopmental Disorder 11
345 c GRN056 Grin1-Related Neurodevelopmental Disorder 10
346 c HNR004 Hnrnph2-Related Neurodevelopmental Disorder 10
347 c INT491 Intellectual Developmental Disorder, X-Linked 42 10
348 c CNG591 Congenital Hypothyroidism Due to Developmental Anomaly 8
349 c TRN076 Transient Congenital Hypothyroidism Due to Neonatal Factor 5
350 c HYP232 Hypothyroidism Due to Iodide Transport Defect 5
351 c TRN075 Transient Congenital Hypothyroidism Due to Maternal Factor 5
352 c RRD014 Rare Adult Hypothyroidism 4
353 CNG438 Congenital Disorder of Glycosylation with Developmental Anomaly 4
354 P PTT014 Pitt-Hopkins Syndrome 60
355 c PTT029 Pitt-Hopkins-Like Syndrome 1 54
356 c DVL118 Developmental and Epileptic Encephalopathy 94 46
357 c PTT030 Pitt-Hopkins-Like Syndrome 2 45
358 CRB215 Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay 37
359 AMM001 Amme Complex 32
360 INT333 Intellectual Developmental Disorder with Autism and Speech Delay 30
361 P MCR352 Microphthalmia, Isolated, with Coloboma 6 30
362 CNG545 Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies 30
363 HYP717 Hypotonia, Infantile, with Psychomotor Retardation 29
364 NRD037 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies 29
365 DVL024 Developmental Delay with or Without Dysmorphic Facies and Autism 29
366 PRR044 Poirier-Bienvenu Neurodevelopmental Syndrome 27
367 c DBT105 Diabetes Mellitus, Permanent Neonatal, 2 27
368 NRD039 Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language 27
369 SHR133 Short Stature-Micrognathia Syndrome 27
370 c DVL120 Developmental and Epileptic Encephalopathy 95 27
371 INT310 Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis 27
372 CRB205 Cerebellar Atrophy with Seizures and Variable Developmental Delay 27
373 INT571 Intellectual Developmental Disorder with Autism and Macrocephaly 26
374 c NBS001 Nabais Sa-De Vries Syndrome, Type 1 26
375 c MCR214 Microphthalmia, Isolated, with Coloboma 9 26
376 INT366 Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities 26
377 c DVL127 Developmental and Epileptic Encephalopathy 98 26
378 c DVL128 Developmental and Epileptic Encephalopathy 99 26
379 c MCR349 Microphthalmia, Isolated, with Coloboma 3 26
380 c CHD006 Chd2-Related Neurodevelopmental Disorders 26
381 NRD109 Neurodevelopmental Disorder with Speech Impairment and Dysmorphic Facies 26
382 MCR380 Microcephaly, Developmental Delay, and Brittle Hair Syndrome 25
383 CRD247 Cardiofacioneurodevelopmental Syndrome 25
384 TRC123 Trichohepatoneurodevelopmental Syndrome 25
385 FCL093 Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome 25
386 CRD243 Cardiac, Facial, and Digital Anomalies with Developmental Delay 25
387 P NBS002 Nabais Sa-De Vries Syndrome, Type 2 25
388 NRD043 Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities 25
389 BRC106 Brachycephaly, Trichomegaly, and Developmental Delay 25
390 c DVL131 Developmental and Epileptic Encephalopathy 100 25
391 NRD072 Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities 25
392 INT331 Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay 24
393 DVL125 Developmental Delay with or Without Intellectual Impairment or Behavioral Abnormalities 24
394 ALK023 Al Kaissi Syndrome 24
395 HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 24
396 NRD144 Neurodevelopmental Disorder with Hyperkinetic Movements and Dyskinesia 24
397 c DNC008 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 24
398 ALZ064 Alzahrani-Kuwahara Syndrome 24
399 INT363 Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies 23
400 WHT021 White-Kernohan Syndrome 23
401 NRD069 Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment 23
402 EPL253 Epilepsy, Early-Onset, with or Without Developmental Delay 23
403 NRD147 Neurodevelopmental Disorder with or Without Variable Movement or Behavioral Abnormalities 23
404 NRD045 Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills 23
405 BRL013 Baralle-Macken Syndrome 23
406 c DVL132 Developmental and Epileptic Encephalopathy 101 22
407 NRD066 Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements 22
408 INT392 Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures 22
409 DVL117 Developmental Delay with Dysmorphic Facies and Dental Anomalies 22
410 c PTT042 Pitt-Hopkins-Like Syndrome 22
411 NRD142 Neurodevelopmental Disorder with Hearing Loss and Spasticity 22
412 c DVL121 Developmental and Epileptic Encephalopathy 96 22
413 CHR669 Chromosome 2p16.3 Deletion Syndrome 22
414 INT347 Intellectual Developmental Disorder with Severe Speech and Ambulation Defects 21
415 c FRN062 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 5 21
416 NRD130 Neurodevelopmental Disorder with Motor and Speech Delay and Behavioral Abnormalities 21
417 c MCR350 Microphthalmia, Isolated, with Coloboma 5 21
418 INT376 Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia 21
419 INT569 Intellectual Developmental Disorder with or Without Peripheral Neuropathy 20
420 BRN151 Brunet-Wagner Neurodevelopmental Syndrome 20
421 P DNC006 Diencephalic-Mesencephalic Junction Dysplasia 20
422 c MCR210 Microphthalmia, Isolated, with Coloboma 7 19
423 c MCR271 Microphthalmia, Isolated, with Coloboma 10 19
424 c TSS007 Tessadori-Van Haaften Neurodevelopmental Syndrome 2 19
425 SGM006 Segmental Odontomaxillary Dysplasia 16
426 c MCR335 Microphthalmia, Isolated, with Coloboma 4 14
427 c MCR346 Microphthalmia, Isolated, with Coloboma 2 14
428 c MCR338 Microphthalmia, Isolated, with Coloboma 1 13
429 PRK068 Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments 12
430 P HNT016 Huntington Disease 72
431 WST001 West Syndrome 64
432 c KLF004 Kleefstra Syndrome 1 54
433 c HNT004 Huntington Disease-Like 2 49
434 P KLF001 Kleefstra Syndrome 49
435 P MGL002 Megalencephalic Leukoencephalopathy with Subcortical Cysts 49
436 c SPN296 Spinocerebellar Ataxia 17 49
437 c MGL009 Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 47
438 CHR492 Chromosome 13q14 Deletion Syndrome 47
439 CLB026 Colobomatous Microphthalmia 46
440 c MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 41
441 c ALP076 Alopecia-Mental Retardation Syndrome 1 40
442 CHR704 Chromosome 16p11.2 Deletion Syndrome 40
443 c DYS172 Dystonia 27 38
444 GBR007 Gabriele-De Vries Syndrome 36
445 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 35
446 c HNT011 Huntington Disease-Like 3 35
447 MCR183 Microcephaly-Capillary Malformation Syndrome 35
448 P INC034 Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 1 32
449 c CTS048 Cutis Laxa, Autosomal Recessive, Type Iie 31
450 BDV001 Bdv Syndrome 30
451 c INT425 Intellectual Developmental Disorder, X-Linked 19 30
452 MCR378 Microangiopathy and Leukoencephalopathy, Pontine, Autosomal Dominant 29
453 c JVN015 Juvenile Huntington Disease 28
454 FGS004 Fg Syndrome 4 27
455 PST103 Postpartum Psychosis 27
456 DTS001 Diets-Jongmans Syndrome 26
457 IMM146 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 26
458 PSD088 Pseudobulbar Affect 25
459 NRD084 Neurodevelopmental Disorder with Absent Language and Variable Seizures 25
460 c KLF002 Kleefstra Syndrome Due to a Point Mutation 25
461 c INT427 Intellectual Developmental Disorder, X-Linked 90 24
462 c INT411 Intellectual Developmental Disorder, X-Linked 72 24
463 CLF057 Cleft Palate, Proliferative Retinopathy, and Developmental Delay 23
464 GLB025 Global Developmental Delay with or Without Impaired Intellectual Development 22
465 INT327 Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia 22
466 CMB112 Combined Oxidative Phosphorylation Deficiency 53 22
467 RCH010 Richieri-Costa/guion-Almeida Syndrome 22
468 c DVL134 Developmental and Epileptic Encephalopathy 102 22
469 c DVL135 Developmental and Epileptic Encephalopathy 103 21
470 RLN005 Rolandic Epilepsy, Impaired Intellectual Development, and Speech Dyspraxia, X-Linked 21
471 INT334 Intellectual Developmental Disorder and Retinitis Pigmentosa 21
472 c DVL141 Developmental and Epileptic Encephalopathy 106 21
473 DVL140 Developmental Delay, Hypotonia, and Impaired Language 21
474 c DVL136 Developmental and Epileptic Encephalopathy 104 20
475 GLB026 Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 20
476 INT574 Intellectual Developmental Disorder with Language Impairment and Early-Onset Dopa-Responsive Dystonia-Parkinsonism 20
477 INT330 Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies 20
478 INT580 Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects 19
479 DVL139 Developmental and Epileptic Encephalopathy 105 with Hypopituitarism 19
480 c HNT013 Huntington Disease-Like Syndrome 19
481 c TSS008 Tessadori-Van Haaften Neurodevelopmental Syndrome 3 19
482 c INC035 Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 3 18
483 c INT494 Intellectual Developmental Disorder, X-Linked 46 18
484 c DVL143 Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 2 18
485 c DVL011 Developmental Dysplasia of the Hip 2 18
486 INT581 Intellectual Developmental Disorder with Autism and Dysmorphic Facies 18
487 c TSS009 Tessadori-Van Haaften Neurodevelopmental Syndrome 4 17
488 CRN269 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 17
489 DVL144 Developmental Delay, Behavioral Abnormalities, and Neuropsychiatric Disorders 17
490 NRD178 Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities 17
491 PLM162 Palmomental Reflex 16
492 NRD157 Neurodevelopmental Disorder with Microcephaly, Hypotonia, Nystagmus, and Seizures 16
493 NRD168 Neurodevelopmental Disorder with Hypotonia, Language Delay, and Skeletal Defects with or Without Seizures 15
494 c HNT014 Huntington Disease-Like Syndrome Due to C9orf72 Expansions 15
495 NRD165 Neurodevelopmental Disorder with Microcephaly, Movement Abnormalities, and Seizures 15
496 c MGL041 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b 14
497 NRD171 Neurodevelopmental Disorder with Short Stature, Prominent Forehead, and Feeding Difficulties 14
498 DVL147 Developmental Delay with Variable Intellectual Disability and Dysmorphic Facies 14
499 c INT486 Intellectual Developmental Disorder, X-Linked 20 14
500 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 14
501 CNT102 Contractures-Developmental Delay-Pierre Robin Syndrome 14
502 P ALP110 Alopecia-Mental Retardation Syndrome 13
503 c DVL148 Developmental and Epileptic Encephalopathy 108 13
504 NRD167 Neurodevelopmental Disorder with Microcephaly, Short Stature, and Speech Delay 12
505 c DVL151 Developmental and Epileptic Encephalopathy 110 11
506 PM1001 Pum1-Associated Developmental Disability-Ataxia-Seizure Syndrome 11
507 c DVL150 Developmental and Epileptic Encephalopathy 109 10
508 DVL149 Developmental Delay, Language Impairment, and Ocular Abnormalities 10
509 INT583 Intellectual Developmental Disorder with Ocular Anomalies and Distinctive Facial Features 8
510 GRN066 Grin2b-Related Developmental Delay, Intellectual Disability and Autism Spectrum Disorder 5
511 PRM330 Primary Congenital Hypothyroidism Without Thyroid Developmental Anomaly 5
512 SGM005 Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia 5
513 CRB216 Cerebellar Hyplasia/atrophy, Epilepsy, and Global Developmental Delay 4
514 DVL152 Developmental Delay, Hypotrophy, and Dysmorphic Features Without Moebius Syndrome 2
515 P DMN002 Dementia 72
516 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 66
517 ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 55
518 c ANT077 Anterior Segment Dysgenesis 1 52
519 P CMP008 Compartment Syndrome 51
520 P ANT088 Anterior Segment Dysgenesis 49
521 c ANT085 Anterior Segment Dysgenesis 5 47
522 c ANT071 Anterior Segment Dysgenesis 4 46
523 c CRB170 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 44
524 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 43
525 OLV002 Oliver Syndrome 42
526 P OVR082 Overgrowth Syndrome 42
527 CHR523 Chromosome 15q11.2 Deletion Syndrome 42
528 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 40
529 c PK3004 Pik3ca-Related Overgrowth Spectrum 38
530 MXL016 Maxillonasal Dysplasia, Binder Type 38
531 c ANT084 Anterior Segment Dysgenesis 3 38
532 c AMY023 Amyotrophic Lateral Sclerosis Type 6 37
533 SPS226 Spastic Paraplegia, Ataxia, and Mental Retardation 37
534 c TRC125 Trichothiodystrophy 7, Nonphotosensitive 36
535 c SPS239 Spastic Paraplegia 82, Autosomal Recessive 36
536 CHR381 Chromosome 17q23.1-Q23.2 Deletion Syndrome 35
537 c CNG378 Congenital Disorder of Glycosylation, Type Ir 35
538 CMB044 Combined Oxidative Phosphorylation Deficiency 14 35
539 c PK3005 Pik3ca-Related Overgrowth Syndrome 32
540 CHR498 Chromosome 16p11.2 Duplication Syndrome 32
541 c TRC103 Trichothiodystrophy 5, Nonphotosensitive 31
542 c ANT083 Anterior Segment Dysgenesis 7 31
543 c HYP890 Hyperphosphatasia with Impaired Intellectual Development Syndrome 2 30
544 P CRD262 Cardiac Valvular Dysplasia 1 30
545 c TRC117 Trichothiodystrophy 6, Nonphotosensitive 30
546 SGM008 Segmental Dystonia 29
547 VRV001 Ververi-Brady Syndrome 29
548 CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 28
549 CMB085 Combined Oxidative Phosphorylation Deficiency 35 27
550 c ANT087 Anterior Segment Dysgenesis 6 26
551 VSS003 Vissers-Bodmer Syndrome 26
552 c VND004 Van Der Woude Syndrome 2 25
553 ENV003 Environmental Induced Asthma 25
554 HRL002 Harlequin Syndrome 24
555 c AMY109 Amyotrophic Lateral Sclerosis Type 22 23
556 P NNP004 Nonphotosensitive Trichothiodystrophy 23
557 HYP823 Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome 23
558 c ANT010 Anterior Compartment Syndrome 23
559 MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 22
560 NRD053 Neurodevelopmental Disorder with Spasticity and Poor Growth 22
561 ISL163 Isolated Childhood Apraxia of Speech 21
562 PRR029 Pierre Robin Syndrome and Oligodactyly 21
563 RSS027 Russell-Silver Syndrome, X-Linked 21
564 c INT492 Intellectual Developmental Disorder, X-Linked 2 20
565 MCR052 Microcephaly Microcornea Syndrome Seemanova Type 19
566 c PNC122 Panic Disorder 1 19
567 NRD064 Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion 19
568 16P008 16p11.2 Duplication 19
569 BRC121 Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation 18
570 c CRD263 Cardiac Valvular Dysplasia 2 18
571 c GLY116 Glycosylphosphatidylinositol Biosynthesis Defect 25 18
572 CHM001 Cahmr Syndrome 17
573 MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 17
574 GRN059 Grn Frontotemporal Dementia 17
575 DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 16
576 CHR397 Chromosome Xp11.3 Deletion Syndrome 16
577 c INT487 Intellectual Developmental Disorder, X-Linked 14 15
578 c SCN087 Scn3a-Related Neurodevelopmental Disorder 15
579 NRD169 Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Absent Language 14
580 FXP001 Foxp2-Related Speech and Language Disorders 14
581 c MJR021 Major Affective Disorder 3 13
582 THM019 Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay 13
583 HYP688 Hypospadias-Mental Retardation Syndrome 13
584 PRM291 Premature Aging Syndrome, Okamoto Type 13
585 MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 13
586 DWR021 Dwarfism, Mental Retardation, and Eye Abnormality 13
587 HYP816 Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes 12
588 STR104 Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Facial Features 12
589 MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 12
590 MNT316 Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 12
591 ART149 Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies 12
592 c GRN068 Grin2d-Related Developmental and Epileptic Encephalopathy 11
593 MNT039 Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 11
594 MTR081 Motor Neuron Disease with Dementia and Ophthalmoplegia 11
595 c MPT002 Mapt-Related Frontotemporal Dementia 11
596 SPS194 Spastic Paresis, Glaucoma, and Mental Retardation 11
597 PRS056 Presenile Dementia, Kraepelin Type 11
598 RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 11
599 INT222 Intermediate Dend Syndrome 10
600 ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 10
601 HRD035 Hair Defect with Photosensitivity and Mental Retardation 10
602 PCS004 Pacs1 Neurodevelopmental Disorder 10
603 c RRD051 Rare Dementia 10
604 DVL026 Developmental Defect of the Eye 10
605 SPS195 Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 10
606 c EZH001 Ezh2-Related Overgrowth 10
607 ATX043 Ataxia with Myoclonic Epilepsy and Presenile Dementia 10
608 ART029 Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 10
609 HYP783 Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 10
610 CTS047 Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation 10
611 c STD003 Setd1b-Related Neurodevelopmental Disorder 9
612 BRC107 Brachmann-De Lange-Like Facial Changes with Microcephaly, Metatarsus Adductus, and Developmental Delay 9
613 SPN397 Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 9
614 DMN041 Dementia/parkinsonism with Non-Alzheimer Amyloid Plaques 9
615 CTN035 Ctnnb1 Neurodevelopmental Disorder 9
616 EPL197 Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation 9
617 GRW037 Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 9
618 c PPP002 Ppp2r5d-Related Neurodevelopmental Disorder 9
619 IND013 Indolylacroyl Glycinuria with Mental Retardation 9
620 PSD115 Pseudouridinuria and Mental Defect 8
621 c EDR001 Eed-Related Overgrowth 8
622 CRM008 Crumpled Helices and Small Mouth 8
623 P ATX048 Ataxia with Dementia 8
624 GNT105 Genetic Dementia 7
625 LTH051 Lethal Brain and Heart Developmental Defects 7
626 MCR072 Microdontia Hypodontia Short Stature 6
627 FCL048 Focal, Segmental or Multifocal Dystonia 6
628 GNT069 Genetic Developmental Defect of the Eye 6
629 NRD075 Neurodegenerative Disease with Dementia 6
630 FBR095 Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation 6
631 STR109 Structural Developmental Eye Defect 5
632 SPN344 Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 5
633 FRN054 Frontotemporal Degeneration with Dementia 5
634 MCR342 Microcephaly, Macrotia, and Mental Retardation 5
635 GN1002 Gnao1-Related Developmental Delay-Seizures-Movement Disorder Spectrum 5
636 CHT003 Chitty Hall Webb Syndrome 5
637 ANT094 Anterior Segment Developmental Anomaly Without Extraocular Manifestations 4
638 P SLC044 Slc12a2-Related Autosomal Dominant Infantile-Developmental Delay-Intellectual Disability-Sensorineural Deafness Syndrome 4
639 ANT090 Anterior Segment Developmental Abnormality with Extraocular Manifestations 4
640 c INF189 Infectious Disease with Dementia 3
641 AMY096 Amyloidosis of Gingiva and Conjunctiva with Intellectual Disability 3
642 c ERL061 Early-Onset Ataxia with Dementia 3
643 c LTN027 Late-Onset Ataxia with Dementia 3
644 c SLC045 Slc12a2-Related Developmental Delay-Intellectual Disability-Sensorineural Deafness Syndrome 3
645 CNT055 Cantu Sanchez-Corona Hernandez Syndrome 3
646 CRB214 Cerebral Lipidosis with Dementia 3
647 DVL145 Developmental Cardiac Valvular Defect 2
648 ANT091 Anterior Segment Developmental Anomaly of Genetic Origin 2
649 c ALZ065 Alzheimer Disease, Familial, 1 87
650 GLL008 Gilles De La Tourette Syndrome 66
651 P CRN015 Cornelia De Lange Syndrome 66
652 P ALC033 Alcohol Use Disorder 64
653 TBC004 Tobacco Addiction 64
654 c CRN139 Cornelia De Lange Syndrome 1 62
655 ETN001 Eating Disorder 58
656 VSC002 Vascular Dementia 57
657 P FTL001 Fetal Alcohol Syndrome 57
658 c ALZ056 Alzheimer Disease 3 56
659 AMN003 Amnestic Disorder 56
660 OPT003 Opiate Dependence 55
661 P AGN002 Agnosia 55
662 ACT084 Acute Stress Disorder 53
663 TRC010 Trichotillomania 52
664 c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 52
665 P SBS003 Substance Abuse 51
666 PNG002 Pain Agnosia 50
667 c GNR039 Generalized Epilepsy with Febrile Seizures Plus, Type 2 49
668 PTH002 Pathological Gambling 49
669 c ALZ049 Alzheimer Disease 2 48
670 SBC016 Subacute Delirium 48
671 c ALZ054 Alzheimer Disease 4 48
672 c ALZ045 Alzheimer Disease 9 48
673 c SPN293 Spinocerebellar Ataxia 12 48
674 SMT001 Somatization Disorder 48
675 CCN002 Cocaine Abuse 47
676 c GNR043 Generalized Epilepsy with Febrile Seizures Plus, Type 7 47
677 WTH001 Withdrawal Disorder 47
678 DLY008 Delayed Sleep Phase Disorder 47
679 ALX001 Alexia 46
680 SBS004 Substance Dependence 45
681 GND019 Gender Incongruence 45
682 DRG003 Drug Dependence 45
683 c ALZ062 Alzheimer Disease 19 45
684 SPC005 Speech Disorder 45
685 CNN002 Cannabis Abuse 45
686 NRD132 Neurodevelopmental Disorder with Hypotonia, Stereotypic Hand Movements, and Impaired Language 45
687 c CHR056 Chronic Tic Disorder 44
688 OPD001 Opioid Abuse 44
689 ATY001 Atypical Depressive Disorder 44
690 HRN003 Heroin Dependence 43
691 MTS001 Mutism 43
692 PHB003 Phobia, Specific 43
693 NMN001 Nominal Aphasia 43
694 BNS003 Binswanger's Disease 42
695 SXL006 Sexual Health Disorder 42
696 P PRK105 Parkinsonism-Dystonia 1, Infantile-Onset 42
697 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 42
698 NNT008 Neonatal Abstinence Syndrome 42
699 CNN001 Cannabis Dependence 41
700 c GNR038 Generalized Epilepsy with Febrile Seizures Plus, Type 1 41
701 MRP001 Morphine Dependence 40
702 RTR001 Retrograde Amnesia 40
703 PRM020 Premenstrual Tension 40
704 HYP030 Hypoactive Sexual Desire Disorder 40
705 c SCH079 Schizophrenia 1 40
706 MLN003 Melancholia 40
707 ANS006 Anosognosia 40
708 c KLF005 Kleefstra Syndrome 2 39
709 SBJ001 Subjective Cognitive Decline 39
710 FCT008 Factitious Disorder 39
711 AGR018 Agraphia 38
712 PRM003 Premature Ejaculation 38
713 KLP001 Kleptomania 38
714 AMP007 Amphetamine Abuse 37
715 STR015 Stereotypic Movement Disorder 37
716 c ALZ058 Alzheimer Disease 11 37
717 c ZMM002 Zimmermann-Laband Syndrome 1 37
718 PHY002 Physical Disorder 37
719 ALX002 Alexithymia 36
720 PRD002 Periodic Limb Movement Disorder 36
721 ECH002 Echolalia 36
722 PCD001 Pica Disease 36
723 c ERL020 Early-Onset Schizophrenia 36
724 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 35
725 c ALZ057 Alzheimer Disease 10 35
726 CHP003 Chopra-Amiel-Gordon Syndrome 35
727 PDP001 Pedophilia 35
728 c ALZ063 Alzheimer's Disease 1 35
729 CHR226 Chromosome 1q41-Q42 Deletion Syndrome 34
730 CHR524 Chromosome 16p13.3 Duplication Syndrome 34
731 c SCH045 Schizophrenia 12 34
732 ATY003 Atypical Autism 34
733 P SYN057 Syndromic Intellectual Disability 33
734 c GNR034 Generalized Epilepsy with Febrile Seizures Plus, Type 9 33
735 PYR003 Pyromania 33
736 P ZMM001 Zimmermann-Laband Syndrome 33
737 ART014 Articulation Disorder 33
738 TNN015 Tonne-Kalscheuer Syndrome 32
739 P SPC019 Specific Language Impairment 32
740 c ALC016 Alcohol Sensitivity, Acute 32
741 FLY001 Flying Phobia 32
742 c EPL009 Epilepsy Progressive Myoclonic Type 3 32
743 RFQ001 Rafiq Syndrome 31
744 CPG001 Capgras Syndrome 31
745 SBS005 Substance-Induced Psychosis 31
746 GRD004 Gardner-Diamond Syndrome 31
747 GBT001 Gaba-Transaminase Deficiency 31
748 c ALZ050 Alzheimer Disease 5 30
749 SXL001 Sexual Sadism 30
750 PSY003 Psychosexual Disorder 30
751 c ALZ012 Alzheimer Disease 12 29
752 c SCH083 Schizophrenia 7 29
753 CHR268 Chromosome 8q Duplication 29
754 ODN024 O'donnell-Luria-Rodan Syndrome 29
755 CHR248 Chromosome 4p Duplication 29
756 c RNG020 Ring Chromosome 4 28
757 c ALZ059 Alzheimer Disease 13 28
758 c SCH052 Schizophrenia 14 28
759 MNC002 Munchausen by Proxy 28
760 ANM002 Animal Phobia 28
761 c CFF012 Coffin-Siris Syndrome 7 27
762 c GNR040 Generalized Epilepsy with Febrile Seizures Plus, Type 4 27
763 GTP001 Gait Apraxia 27
764 WRT002 Writing Disorder 27
765 FTS001 Fetishism 27
766 c ATS367 Autism X-Linked 3 26
767 c CFF006 Coffin-Siris Syndrome 5 26
768 PRP015 Paraphilia Disorder 26
769 AMS001 Amusia 26
770 c ALZ016 Alzheimer Disease 8 26
771 c ALZ014 Alzheimer Disease 16 26
772 TRN006 Transvestism 26
773 c SCH081 Schizophrenia 6 26
774 BCK019 Beck-Fahrner Syndrome 26
775 IMG002 Imagawa-Matsumoto Syndrome 25
776 BRB003 Barbiturate Abuse 25
777 CHR241 Chromosome 2q24 Microdeletion Syndrome 25
778 ALC003 Alcoholic Psychosis 25
779 c ALZ015 Alzheimer Disease 6 25
780 c GNR046 Generalized Epilepsy with Febrile Seizures Plus, Type 10 25
781 MXD044 Mixed Sleep Apnea 24
782 c ATS365 Autism X-Linked 1 24
783 NSP004 Nosophobia 24
784 c ALZ061 Alzheimer Disease 15 24
785 c RNG006 Ring Chromosome 11 24
786 VYR001 Voyeurism 24
787 BST003 Bestiality 24
788 HLL005 Hallucinogen Dependence 24
789 c TRN005 Transient Tic Disorder 24
790 CHR634 Chromosome 16p12.1 Deletion Syndrome, 520-Kb 23
791 c ALZ032 Alzheimer Disease 18 23
792 c ZMM003 Zimmermann-Laband Syndrome 2 23
793 TCT002 Tactile Agnosia 23
794 c GNR013 Generalized Epilepsy with Febrile Seizures Plus, Type 6 23
795 c ALZ053 Alzheimer Disease 7 23
796 ASS001 Associative Agnosia 23
797 FNG001 Finger Agnosia 23
798 CTF001 Catifa Syndrome 23
799 AKN001 Akinetopsia 22
800 c ALZ060 Alzheimer Disease 14 22
801 SXL002 Sexual Masochism 22
802 c ALZ031 Alzheimer Disease 17 22
803 c PRK106 Parkinsonism-Dystonia 2, Infantile-Onset 22
804 c MCR383 Microcephaly 27, Primary, Autosomal Dominant 22
805 c ZMM004 Zimmermann-Laband Syndrome 3 22
806 DLP001 Delpire-Mcneill Syndrome 21
807 c RTS004 Ritscher-Schinzel Syndrome 3 21
808 PHN001 Phencyclidine Abuse 21
809 c MSC139 Mosaic Variegated Aneuploidy Syndrome 3 21
810 c SCH086 Schizophrenia 11 21
811 1Q4001 1q44 Microdeletion Syndrome 21
812 EDN001 Edinburgh Malformation Syndrome 20
813 MSC148 Musical Perfect Pitch 20
814 c LKD037 Leukodystrophy, Hypomyelinating, 24 20
815 c ATS377 Autism 16 20
816 c FRM002 Form Agnosia 20
817 c SPC027 Specific Language Impairment 1 19
818 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 19
819 c SPC023 Specific Language Impairment 5 19
820 ATT001 Autotopagnosia 18
821 BRD027 Braddock Jones Superneau Syndrome 18
822 c HVP001 Hivep2-Related Intellectual Disability 18
823 CNG607 Congenital Disorder of Glycosylation, Type Icc 18
824 c GNR042 Generalized Epilepsy with Febrile Seizures Plus, Type 8 17
825 20P001 20p12.3 Microdeletion Syndrome 17
826 TPG001 Topographical Agnosia 17
827 AST004 Astereognosia 17
828 ADS003 Aids Phobia 16
829 BRB002 Barbiturate Dependence 16
830 c SPC028 Specific Language Impairment 2 16
831 c ATS177 Autism X-Linked 5 16
832 MXD002 Mixed Receptive-Expressive Language Disorder 16
833 CLT002 Cluttering 15
834 c NNS090 Non-Syndromic X-Linked Intellectual Disability 82 14
835 c ATS403 Autosomal Dominant Intellectual Disability 40 14
836 CLR009 Color Agnosia 14
837 P LTN003 Late-Onset Familial Alzheimer Disease 14
838 c ATS348 Autosomal Dominant Intellectual Disability 30 13
839 c NNS080 Non-Syndromic X-Linked Intellectual Disability 89 13
840 c ATS360 Autosomal Recessive Intellectual Disability 58 13
841 c NNS077 Non-Syndromic X-Linked Intellectual Disability 14 13
842 INT031 Integrative Agnosia 12
843 c RRS015 Rare Syndromic Intellectual Disability 12
844 c SPC015 Specific Language Impairment 4 12
845 HLL002 Hallucinogen Abuse 11
846 c SPC029 Specific Language Impairment 3 11
847 c TSB001 T-Substance Anomaly 11
848 MRR002 Mirror Agnosia 11
849 c NNS092 Non-Syndromic X-Linked Intellectual Disability 46 10
850 c NNS084 Non-Syndromic X-Linked Intellectual Disability 77 10
851 P RRN017 Rare Intellectual Disability 10
852 c WCR002 Wac-Related Intellectual Disability 9
853 c NNS078 Non-Syndromic X-Linked Intellectual Disability 45 9
854 PSY001 Psychologic Vaginismus 9
855 c WDR002 Wdr26-Related Intellectual Disability 9
856 c TRR002 Trio-Related Intellectual Disability 9
857 c NNS075 Non-Syndromic X-Linked Intellectual Disability 20 8
858 PSY002 Psychologic Dyspareunia 7
859 SCL006 Social Emotional Agnosia 6
860 TMG001 Time Agnosia 5
861 c DDX001 Ddx3x-Related Intellectual Disability 4
862 SMN003 Semantic Agnosia 4
863 ANT016 Antidepressant Type Abuse 4
864 SYN172 Syndromic X-Linked Intellectual Disorder Lujan-Fryns-Type 3
865 P FRN044 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 62
866 c FRN059 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 51
867 c FRN043 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 40
868 P CRB185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 52
869 MSS001 Masa Syndrome 62
870 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 69
871 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
872 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 59
873 P PLY180 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 58
874 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 56
875 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 47
876 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 47
877 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 47
878 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 43
879 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 42
880 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 35
881 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 7
882 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 5
883 P LKN033 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1 63
884 c LKN034 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2 22
885 NRD118 Neurodevelopmental Disorder with or Without Autism or Seizures 24
886 P NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 30
887 P CTS001 Cutis Laxa 57
888 c CTS045 Cutis Laxa, Autosomal Dominant 1 57
889 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 52
890 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 48
891 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 47
892 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 47
893 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 47
894 c ATS393 Autosomal Recessive Cutis Laxa Type I 46
895 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45
896 c CTS041 Cutis Laxa, Autosomal Dominant 3 42
897 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 39
898 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 39
899 c ATP003 Atp6v0a2-Related Cutis Laxa 35
900 c CTS031 Cutis Laxa, Autosomal Dominant 2 35
901 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
902 c ACQ027 Acquired Cutis Laxa 20
903 c LTB003 Ltbp4-Related Cutis Laxa 19
904 c FBL003 Fbln5-Related Cutis Laxa 18
905 c ELN002 Eln-Related Cutis Laxa 14
906 c EFM001 Efemp2-Related Cutis Laxa 13
907 BCH004 Bachmann-Bupp Syndrome 36
908 c DYS056 Dystonia 12 67
909 P DYS154 Dystonia 66
910 c DVL042 Developmental and Epileptic Encephalopathy 14 62
911 EPL258 Epilepsy, Focal, with Speech Disorder and with or Without Impaired Intellectual Development 61
912 c DYS059 Dystonia 16 46
913 c DYS119 Dystonia 9 43
914 GRN060 Grn-Related Frontotemporal Lobar Degeneration 43
915 c FRN040 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 39
916 c DYS151 Dystonia 25 37
917 GLB024 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 37
918 c DYS146 Dystonia 24 36
919 c DYS162 Dystonia, Juvenile-Onset 35
920 c DYS145 Dystonia 23 33
921 DVL031 Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects 28
922 NRD101 Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly 27
923 c DYS212 Dystonia 30 25
924 NRD085 Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures 24
925 c DYS138 Dystonia 21 23
926 c DYS216 Dystonia 32 23
927 c DYS214 Dystonia 31 22
928 c KMT002 Kmt2b-Related Dystonia 21
929 c HRD198 Hereditary Dystonia 21
930 c DYS223 Dystonia 28 21
931 c RRD039 Rare Dystonia 9
932 P PRN023 Prion Disease 59
933 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 52
934 P AMY106 Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia 45
935 ALP094 Alpha Thalassemia-Intellectual Disability Syndrome Type 1 36
936 NRD091 Neurodevelopmental Disorder with Hypotonia and Impaired Expressive Language and with or Without Seizures 29
937 c CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 28
938 c INH032 Inherited Human Prion Disease 25
939 c CRB195 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 24
940 c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 24
941 NRD145 Neurodevelopmental Disorder, Nonprogressive, with Spasticity and Transient Opisthotonus 23
942 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 19
943 c ACQ069 Acquired Human Prion Disease 10
944 c SPR154 Sporadic Human Prion Disease 10
945 KFR001 Kufor-Rakeb Syndrome 60
946 CRB151 Cerebral Creatine Deficiency Syndrome 1 56
947 c CHR630 Chorea, Benign Hereditary 42
948 c DVL062 Developmental and Epileptic Encephalopathy 35 42
949 MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 38
950 NRD028 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 32
951 NRD031 Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 25
952 P CHR636 Chorea, Benign Familial 12
953 MNT257 Mental Retardation, X-Linked, with Craniofacial Dysmorphism 11
954 ALX003 Alexander Disease 63
955 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 49
956 NRD102 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities 35
957 NRD038 Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy 34
958 NRP071 Neuropathy, Hereditary Sensory and Autonomic, Type Ix, with Developmental Delay 33
959 NRD129 Neurodevelopmental Disorder with Neonatal Respiratory Insufficiency, Hypotonia, and Feeding Difficulties 32
960 NRD057 Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects 30
961 c FCL091 Focal Segmental Glomerulosclerosis 10 30
962 P OBS015 Obesity, Hyperphagia, and Developmental Delay 25
963 NRD067 Neurodevelopmental Disorder with or Without Variable Brain Abnormalities 25
964 NRD107 Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech, and Hypotonia 25
965 NRD105 Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Imaging Abnormalities 24
966 NRD040 Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter 23
967 c NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 23
968 NRD112 Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities 23
969 INT391 Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy 22
970 NRD113 Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities 21
971 NRD095 Neurodevelopmental Disorder with or Without Autistic Features and/or Structural Brain Abnormalities 21
972 SBN004 Sabinas Brittle Hair Syndrome 16
973 INS024 Insulin-Like Growth Factor I 77
974 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 52
975 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 49
976 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 48
977 AND001 Anodontia 46
978 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 46
979 P HYP888 Hyperphosphatasia with Impaired Intellectual Development Syndrome 1 41
980 P GLY112 Glycosylphosphatidylinositol Biosynthesis Defect 1 39
981 SMT020 Smith-Kingsmore Syndrome 39
982 KHR001 Kahrizi Syndrome 34
983 NRD036 Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures 33
984 c HYP891 Hyperphosphatasia with Impaired Intellectual Development Syndrome 4 30
985 c GLY103 Glycosylphosphatidylinositol Biosynthesis Defect 15 28
986 IMP020 Impaired Intellectual Development and Distinctive Facial Features with or Without Cardiac Defects 28
987 NRD023 Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language 27
988 c GLY106 Glycosylphosphatidylinositol Biosynthesis Defect 11 27
989 NRD054 Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures 27
990 NRD049 Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or Without Seizures 26
991 c HYP889 Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 26
992 c GLY107 Glycosylphosphatidylinositol Biosynthesis Defect 17 23
993 c ALP114 Alopecia-Intellectual Disability Syndrome 2 18
994 PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 15
995 ACR008 Acrocallosal Syndrome 67
996 P ANG001 Angelman Syndrome 64
997 PRR007 Perry Syndrome 52
998 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 45
999 TMT003 Temtamy Syndrome 40
1000 PNT009 Pontine Tegmental Cap Dysplasia 34
1001 NRD026 Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies 32
1002 NRD108 Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities 32
1003 RNL120 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation 30
1004 MNT254 Mental Retardation Syndrome, Mietens-Weber Type 25
1005 CLB035 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Impaired Intellectual Development 24
1006 LBN005 Lubani-Al Saleh-Teebi Syndrome 22
1007 BLP044 Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 22
1008 c ANG059 Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 21
1009 c ANG053 Angelman Syndrome Due to Maternal 15q11q13 Deletion 20
1010 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 20
1011 c ANG052 Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 18
1012 WLF012 Wolff Mental Retardation Syndrome 18
1013 P MNT312 Mental Health Wellness 1 18
1014 PTR031 Pterygium Colli and Mental Retardation with Facial and Digital Anomalies 18
1015 MNT311 Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration 17
1016 c PPP004 Ppp2r1a-Related Neurodevelopmental Disorder 16
1017 KFF001 Kifafa Seizure Disorder 15
1018 c ANG058 Angelman Syndrome Due to a Point Mutation 15
1019 RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 15
1020 HLL013 Hall-Riggs Mental Retardation Syndrome 14
1021 CRN293 Craniosynostosis-Mental Retardation-Clefting Syndrome 13
1022 CTR173 Cataract, Ataxia, Short Stature, and Mental Retardation 12
1023 SCH022 Schimke X-Linked Mental Retardation Syndrome 12
1024 MGR041 Megarbane-Jalkh Syndrome 11
1025 LMB066 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 11
1026 c MNT313 Mental Health Wellness 2 11
1027 ULN022 Ulnar Hypoplasia with Mental Retardation 10
1028 PTR032 Peters-Plus Syndrome 65
1029 P MCR010 Microcephaly 59
1030 MNK003 Muenke Syndrome 59
1031 c PRM031 Primary Autosomal Recessive Microcephaly 51
1032 NCL006 Nicolaides-Baraitser Syndrome 50
1033 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 45
1034 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 43
1035 c MCR320 Microcephaly 17, Primary, Autosomal Recessive 41
1036 ADS004 Aids Dementia Complex 41
1037 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 40
1038 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 40
1039 c PRM212 Primary Microcephaly 39
1040 NRD029 Neurodevelopmental Disorder with Involuntary Movements 39
1041 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 38
1042 MLT178 Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked 38
1043 c MCR238 Microcephaly 7, Primary, Autosomal Recessive 38
1044 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 37
1045 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 37
1046 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 37
1047 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 36
1048 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 36
1049 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 35
1050 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 33
1051 P TSS006 Tessadori-Van Haaften Neurodevelopmental Syndrome 1 32
1052 SPN352 Spondyloepimetaphyseal Dysplasia, Genevieve Type 32
1053 CRB165 Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 31
1054 GTD002 Gatad2b-Associated Neurodevelopmental Disorder 31
1055 DVL122 Developmental Delay, Impaired Speech, and Behavioral Abnormalities 29
1056 P ALP116 Alopecia-Intellectual Disability Syndrome 4 29
1057 DVL111 Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy 28
1058 NRD081 Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies 27
1059 P NRD134 Neurodevelopmental Disorder with Hypotonia and Dysmorphic Facies 27
1060 NRD096 Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures 26
1061 c DBT106 Diabetes Mellitus, Permanent Neonatal, 3 26
1062 c MCR382 Microcephaly 26, Primary, Autosomal Dominant 25
1063 NRD094 Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation 25
1064 NRD115 Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities 25
1065 NRD099 Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity 25
1066 NRD088 Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity 25
1067 c MCR360 Microcephaly 20, Primary, Autosomal Recessive 25
1068 MRB008 Marbach-Schaaf Neurodevelopmental Syndrome 24
1069 NRD092 Neurodevelopmental Disorder with Brain Anomalies, Seizures, and Scoliosis 24
1070 NRD061 Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities 24
1071 NRD116 Neurodevelopmental Disorder with or Without Early-Onset Generalized Epilepsy 24
1072 LKN030 Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome 24
1073 NRD135 Neurodevelopmental Disorder with Hypotonia and Brain Abnormalities 24
1074 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 24
1075 CHL189 Chilton-Okur-Chung Neurodevelopmental Syndrome 24
1076 NRD062 Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction 24
1077 HTT003 Hiatt-Neu-Cooper Neurodevelopmental Syndrome 23
1078 NRD140 Neurodevelopmental Disorder with Impaired Language and Ataxia and with or Without Seizures 23
1079 c MCR361 Microcephaly 21, Primary, Autosomal Recessive 23
1080 NRD119 Neurodevelopmental Disorder with Cerebral Atrophy and Variable Facial Dysmorphism 23
1081 INT368 Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities 23
1082 NRD044 Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features 23
1083 ILL003 Illum Syndrome 23
1084 INT568 Intellectual Developmental Disorder, Autosomal Recessive 75, with Neuropsychiatric Features and Variant Lissencephaly 22
1085 NRD131 Neurodevelopmental Disorder with Dysmorphic Facies and Thin Corpus Callosum 22
1086 NRD123 Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar Hypoplasia 22
1087 c MCR362 Microcephaly 22, Primary, Autosomal Recessive 22
1088 HNG004 Hengel-Maroofian-Schols Syndrome 21
1089 NRD122 Neurodevelopmental Disorder with Spasticity, Cataracts, and Cerebellar Hypoplasia 21
1090 NRD042 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy 21
1091 c NRD152 Neurodevelopmental Disorder with Central Hypotonia and Dysmorphic Facies 21
1092 c MCR372 Microcephaly 25, Primary, Autosomal Recessive 21
1093 NRD136 Neurodevelopmental Disorder with Seizures and Brain Abnormalities 20
1094 NRD126 Neurodevelopmental Disorder with Cerebellar Atrophy and Motor Dysfunction 20
1095 c MCR363 Microcephaly 23, Primary, Autosomal Recessive 20
1096 NRD127 Neurodevelopmental Disorder with Infantile Epileptic Spasms 19
1097 NRD146 Neurodevelopmental Disorder with Microcephaly, Seizures, and Neonatal Cholestasis 19
1098 NRD111 Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy 19
1099 c MCR368 Microcephaly 24, Primary, Autosomal Recessive 19
1100 NRD110 Neurodevelopmental Disorder with Seizures and Brain Atrophy 19
1101 c MCR391 Microcephaly 29, Primary, Autosomal Recessive 19
1102 c MCR386 Microcephaly 28, Primary, Autosomal Recessive 18
1103 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 69
1104 c CNG411 Congenital Disorder of Glycosylation, Type in 67
1105 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 64
1106 c CNG415 Congenital Disorder of Glycosylation, Type Ia 61
1107 c BSL024 Basal Cell Carcinoma 1 59
1108 c CNG389 Congenital Disorder of Glycosylation, Type Iim 59
1109 c RBN021 Rubinstein-Taybi Syndrome 1 57
1110 P WRB002 Warburg Micro Syndrome 1 56
1111 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 56
1112 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 56
1113 TRD006 Tardive Dyskinesia 53
1114 c CNG191 Congenital Disorder of Glycosylation, Type Iia 52
1115 P NRD007 Neurodegeneration with Brain Iron Accumulation 52
1116 IMM166 Immunodeficiency 27a 52
1117 c CNG203 Congenital Disorder of Glycosylation, Type Iii 52
1118 c CNG208 Congenital Disorder of Glycosylation, Type Iic 51
1119 PLY117 Polymicrogyria, Bilateral Frontoparietal 50
1120 c CNG190 Congenital Disorder of Glycosylation, Type Iib 49
1121 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 49
1122 c CNG199 Congenital Disorder of Glycosylation, Type Im 49
1123 c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 49
1124 c CNG201 Congenital Disorder of Glycosylation, Type Iij 48
1125 CMB026 Combined Oxidative Phosphorylation Deficiency 12 48
1126 c CNG209 Congenital Disorder of Glycosylation, Type Iif 48
1127 c CNG383 Congenital Disorder of Glycosylation, Type Iik 47
1128 c PSD106 Pseudo-Torch Syndrome 1 47
1129 c CNG414 Congenital Disorder of Glycosylation, Type Iil 47
1130 c CNG204 Congenital Disorder of Glycosylation, Type Iih 47
1131 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 46
1132 c CNG185 Congenital Disorder of Glycosylation, Type Iig 46
1133 c HNT010 Huntington Disease-Like 1 46
1134 P SML001 Small Cell Carcinoma 46
1135 c CNG194 Congenital Disorder of Glycosylation, Type Ig 46
1136 c CNG197 Congenital Disorder of Glycosylation, Type Ih 45
1137 c CNG189 Congenital Disorder of Glycosylation, Type Ib 45
1138 c LRG001 Large Cell Carcinoma 45
1139 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 45
1140 c CNG196 Congenital Disorder of Glycosylation, Type Ic 45
1141 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 45
1142 c CNG187 Congenital Disorder of Glycosylation, Type Iid 44
1143 c WRB004 Warburg Micro Syndrome 3 43
1144 c WRB003 Warburg Micro Syndrome 2 43
1145 c CNG198 Congenital Disorder of Glycosylation, Type Il 42
1146 c CNG497 Congenital Disorder of Glycosylation, Type Iio 42
1147 c CNG379 Congenital Disorder of Glycosylation, Type It 42
1148 c CNG504 Congenital Disorder of Glycosylation, Type Iip 42
1149 IMM186 Immunodeficiency 27b 42
1150 c CNG192 Congenital Disorder of Glycosylation, Type Ik 41
1151 c LKD015 Leukodystrophy, Hypomyelinating, 3 41
1152 c CNG195 Congenital Disorder of Glycosylation, Type Id 41
1153 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 40
1154 c CNG200 Congenital Disorder of Glycosylation, Type Iq 40
1155 c WRB005 Warburg Micro Syndrome 4 39
1156 VLP002 Valproate Embryopathy 38
1157 TMP019 Temporomandibular Joint Anomaly 38
1158 c PNT033 Pontocerebellar Hypoplasia, Type 10 37
1159 c CNG386 Congenital Disorder of Glycosylation, Type Iu 36
1160 c CNG403 Congenital Disorder of Glycosylation, Type Ix 36
1161 c CNG188 Congenital Disorder of Glycosylation, Type if 35
1162 MCR025 Microhydranencephaly 35
1163 c CNG416 Congenital Disorder of Glycosylation, Type Iy 34
1164 TBS001 Tabes Dorsalis 32
1165 P TRC034 Torch Syndrome 32
1166 c PSD107 Pseudo-Torch Syndrome 2 31
1167 SPN368 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 29
1168 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 29
1169 NRD156 Neurodevelopmental Disorder with Poor Growth and Skeletal Anomalies 28
1170 c CNG626 Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive 27
1171 c BSL011 Basal Cell Carcinoma, Multiple 26
1172 c CNG623 Congenital Disorder of Glycosylation, Type Iiw 26
1173 NRD077 Neurodevelopmental Disorder with Cataracts, Poor Growth, and Dysmorphic Facies 26
1174 GZP006 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development 25
1175 BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 25
1176 c CNG615 Congenital Disorder of Glycosylation, Type Iir 25
1177 NRD138 Neurodevelopmental Disorder with Hypotonia, Craniofacial Abnormalities, and Seizures 24
1178 c CNG627 Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant 24
1179 c PSD121 Pseudo-Torch Syndrome 3 24
1180 NRD093 Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy 24
1181 IMM188 Immunodeficiency, Developmental Delay, and Hypohomocysteinemia 23
1182 NRD089 Neurodevelopmental Disorder with Brain Anomalies and with or Without Vertebral or Cardiac Anomalies 23
1183 HNT017 Hunter-Mcalpine Craniosynostosis Syndrome 23
1184 ALL014 Allergic Encephalomyelitis 23
1185 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
1186 NRD079 Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies 23
1187 INT362 Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies 22
1188 DNT053 Dentici-Novelli Neurodevelopmental Syndrome 22
1189 NRD035 Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures 22
1190 PRN072 Parenti-Mignot Neurodevelopmental Syndrome 22
1191 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 22
1192 GLB029 Global Developmental Delay with Speech and Behavioral Abnormalities 22
1193 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 21
1194 SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 21
1195 NRD166 Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities 21
1196 NRD162 Neurodevelopmental Disorder with Speech Delay and Variable Ocular Anomalies 21
1197 NRD078 Neurodevelopmental Disorder with Cerebellar Hypoplasia and Spasticity 21
1198 DVL130 Developmental Delay with Variable Neurologic and Brain Abnormalities 21
1199 c BSL034 Basal Cell Carcinoma 7 21
1200 NRD070 Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies 20
1201 MCR370 Macrocephaly, Acquired, with Impaired Intellectual Development 20
1202 NRD076 Neurodevelopmental Disorder with Ataxia, Hypotonia, and Microcephaly 20
1203 INT346 Intellectual Developmental Disorder with Short Stature and Variable Skeletal Anomalies 20
1204 NRD159 Neurodevelopmental Disorder with Dystonia and Seizures 20
1205 DWR024 Dworschak-Punetha Neurodevelopmental Syndrome 19
1206 NRD160 Neurodevelopmental Disorder with Epilepsy and Brain Atrophy 19
1207 P RBN007 Rubinstein Taybi Like Syndrome 19
1208 NRD164 Neurodevelopmental Disorder with Spasticity, Seizures, and Brain Abnormalities 19
1209 RTN207 Retinopathy, Pigmentary, and Mental Retardation 19
1210 OST181 Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay 18
1211 NRD158 Neurodevelopmental Disorder with Language Delay and Seizures 18
1212 NRD163 Neurodevelopmental Disorder with Intention Tremor, Pyramidal Signs, Dyspraxia, and Ocular Anomalies 18
1213 INT390 Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies 18
1214 NRD161 Neurodevelopmental Disorder with Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, and Brain Atrophy 18
1215 DVL138 Developmental Delay, Impaired Speech, and Behavioral Abnormalities, with or Without Seizures 18
1216 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 18
1217 ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 17
1218 NRD174 Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly 17
1219 c ALP115 Alopecia-Intellectual Disability Syndrome 3 16
1220 c BSL026 Basal Cell Carcinoma 3 16
1221 c BSL025 Basal Cell Carcinoma 2 15
1222 c BSL028 Basal Cell Carcinoma 5 15
1223 VSC048 Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome 15
1224 c BSL029 Basal Cell Carcinoma 6 14
1225 NRD179 Neurodevelopmental Disorder with Speech Impairment and with or Without Seizures 14
1226 FBL015 Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome 14
1227 c BSL027 Basal Cell Carcinoma 4 13
1228 OST114 Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome 13
1229 OBS068 Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome 11
1230 c CNG628 Congenital Disorder of Glycosylation Iw 9
1231 SPN387 Spinal Muscular Atrophy, Segmental 8
1232 c PPP001 Ppp2r5d-Related Intellectual Disability 8
1233 CNG533 Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome 7
1234 P DSR041 Disorder of Multiple Glycosylation 6
1235 GRW022 Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome 6
1236 NRX005 Nrxn1-Related Severe Neurodevelopmental Disorder-Motor Stereotypies-Chronic Constipation-Sleep-Wake Cycle Disturbance 4
1237 FBX004 Fbxw7 Neurodevelopmental Syndrome 3
1238 P ENC018 Encephalopathy 64
1239 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 63
1240 P CTR002 Cataract 60
1241 c HRD202 Hereditary Lymphedema I 60
1242 BRN045 Brunner Syndrome 59
1243 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 59
1244 LG4001 Lig4 Syndrome 57
1245 MCR013 Microphthalmia 57
1246 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 56
1247 SLC006 Silicosis 55
1248 c CRD259 Ceroid Lipofuscinosis, Neuronal, 6a 55
1249 MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 55
1250 P BND018 Band Heterotopia 55
1251 RSP019 Respiratory Distress Syndrome in Premature Infants 54
1252 CLL036 Culler-Jones Syndrome 53
1253 P MRT010 Martsolf Syndrome 1 53
1254 VLC001 Velocardiofacial Syndrome 52
1255 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 52
1256 P RST001 Restless Legs Syndrome 51
1257 TMT002 Temtamy Preaxial Brachydactyly Syndrome 51
1258 c PRK085 Parkinson Disease 1, Autosomal Dominant 51
1259 HMC001 Homocarnosinosis 49
1260 NNN022 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 49
1261 VTR010 Vitreoretinochoroidopathy 48
1262 NRS003 Neurosyphilis 48
1263 BSL009 Basal Ganglia Calcification 47
1264 c CTR103 Cataract 4, Multiple Types 47
1265 MLT084 Multicystic Dysplastic Kidney 47
1266 c CTR098 Cataract 1, Multiple Types 47
1267 c PNT018 Pontocerebellar Hypoplasia, Type 1b 47
1268 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 47
1269 CDS002 Codas Syndrome 47
1270 NNS045 Non-Specific Syndromic Intellectual Disability 46
1271 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 46
1272 c CTR182 Cataract 23, Multiple Types 44
1273 c CTR096 Cataract 6, Multiple Types 44
1274 IMM180 Immunodeficiency 28 44
1275 CKS001 Ck Syndrome 44
1276 BSC005 Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 44
1277 c CTR130 Cataract 9, Multiple Types 43
1278 c CRD258 Ceroid Lipofuscinosis, Neuronal, 6b 43
1279 c CRD239 Ceroid Lipofuscinosis, Neuronal, 13 43
1280 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 43
1281 c CRD257 Ceroid Lipofuscinosis, Neuronal, 4 42
1282 WTT002 Witteveen-Kolk Syndrome 42
1283 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 41
1284 SPN360 Spondylometaphyseal Dysplasia, Corner Fracture Type 41
1285 NRN008 Neuronal Intranuclear Inclusion Disease 41
1286 CLF050 Cleft Palate, Cardiac Defects, and Mental Retardation 40
1287 P PRM327 Primary Lymphedema 40
1288 c CTR118 Cataract 14, Multiple Types 40
1289 JWD001 Jawad Syndrome 40
1290 c CTR125 Cataract 7 39
1291 c CTR132 Cataract 3, Multiple Types 39
1292 c CTR115 Cataract 16, Multiple Types 39
1293 c CTR170 Cataract 30, Multiple Types 39
1294 c CTR174 Cataract 40 38
1295 c HRD206 Hereditary Lymphedema Ii 38
1296 AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 38
1297 c CTR113 Cataract 11, Multiple Types 38
1298 c HRD007 Hereditary Lymphedema 38
1299 c CTR145 Cataract 44 37
1300 NRD004 Neurodegeneration Due to Cerebral Folate Transport Deficiency 36
1301 c CTR129 Cataract 31, Multiple Types 36
1302 c CTR181 Cataract 18 35
1303 ART173 Arthrogryposis, Impaired Intellectual Development, and Seizures 35
1304 c CTR122 Cataract 5, Multiple Types 34
1305 c CTR183 Cataract 38 34
1306 c RST012 Restless Legs Syndrome 1 34
1307 c CTR095 Cataract 8, Multiple Types 34
1308 c AMY079 Amyotrophic Lateral Sclerosis Type 15 33
1309 c CNG439 Congenital Lymphedema 33
1310 CMB078 Combined Oxidative Phosphorylation Deficiency 32 33
1311 KNS007 Kinsship Syndrome 33
1312 c CTR102 Cataract 2, Multiple Types 33
1313 SKR001 Skraban-Deardorff Syndrome 33
1314 c CTR131 Cataract 17, Multiple Types 32
1315 c CTR187 Cataract 48 32
1316 c CTR111 Cataract 36 32
1317 c CTR185 Cataract 30 32
1318 LSS040 Lissencephaly 9 with Complex Brainstem Malformation 32
1319 MCR355 Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy 31
1320 c CTR124 Cataract 10, Multiple Types 31
1321 c PNT059 Pontocerebellar Hypoplasia, Type 16 31
1322 c NPH115 Nephrotic Syndrome, Type 23 31
1323 HRT037 Heart and Brain Malformation Syndrome 31
1324 c CTR175 Cataract 24 30
1325 SPS190 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 30
1326 c CTR119 Cataract 32, Multiple Types 30
1327 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 29
1328 c CTR141 Cataract 21, Multiple Types 29
1329 c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 29
1330 c CTR180 Cataract 22, Multiple Types 27
1331 c SPN451 Spinocerebellar Ataxia, Autosomal Recessive 29 27
1332 SPN424 Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits 27
1333 c CTR116 Cataract 15, Multiple Types 26
1334 c RST020 Restless Legs Syndrome 6 26
1335 c NPH096 Nephrotic Syndrome, Type 12 26
1336 c CTR105 Cataract 12, Multiple Types 26
1337 CHR457 Chromosome 17p13.1 Deletion Syndrome 26
1338 SHK002 Shukla-Vernon Syndrome 26
1339 c CTR166 Cataract 33, Multiple Types 26
1340 c CTR121 Cataract 25 26
1341 c CTR097 Cataract 34, Multiple Types 26
1342 CHR722 Chromosome Xq25 Duplication Syndrome 25
1343 WLM019 Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 24
1344 c CTR169 Cataract 29 24
1345 c HRD204 Hereditary Lymphedema Ia 24
1346 c CTR165 Cataract 19, Multiple Types 24
1347 c CTR162 Cataract 47 23
1348 c CTR136 Cataract 41 23
1349 c CTR157 Cataract 28 23
1350 P HYP893 Hypomagnesemia, Seizures, and Impaired Intellectual Development 2 23
1351 ZCH002 Zechi-Ceide Syndrome 23
1352 BSL042 Basilar Impression, Primary 23
1353 c CTR158 Cataract 37 23
1354 c HYP892 Hypomagnesemia, Seizures, and Impaired Intellectual Development 1 23
1355 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 23
1356 c SPN452 Spinocerebellar Ataxia, Autosomal Recessive 30 23
1357 c HRD100 Hereditary Lymphedema Ic 23
1358 c NPH093 Nephrotic Syndrome, Type 13 22
1359 c MRT011 Martsolf Syndrome 2 22
1360 c CTR184 Cataract 39, Multiple Types 22
1361 c CTR106 Cataract 20, Multiple Types 22
1362 DRM023 Dermoodontodysplasia 22
1363 c CTR110 Cataract 26, Multiple Types 22
1364 c CTR160 Cataract 45 21
1365 c PNT058 Pontocerebellar Hypoplasia, Type 1f 21
1366 c CTR144 Cataract 43 21
1367 c CTR178 Cataract 27 21
1368 c CTR128 Cataract 33 20
1369 c CTR159 Cataract 35 20
1370 c CTR139 Cataract 42 20
1371 FLL034 Fallot Complex with Severe Mental and Growth Retardation 20
1372 THR109 Thoracic Dysplasia-Hydrocephalus Syndrome 20
1373 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 18
1374 c CTR190 Cataract 49 18
1375 NRD055 Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum 18
1376 LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 18
1377 INT286 Intellectual Disability-Spasticity-Ectrodactyly Syndrome 18
1378 CBT003 Cubitus Valgus with Impaired Intellectual Development and Unusual Facies 18
1379 ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 18
1380 ICH080 Ichthyosis Alopecia Eclabion Ectropion Intellectual Disability 18
1381 c RRP002 Rare Pervasive Developmental Disorder 17
1382 XLN197 X-Linked Intellectual Disability-Plagiocephaly Syndrome 17
1383 MNT315 Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 16
1384 SPS218 Spastic Diplegia and Mental Retardation 15
1385 CTS046 Cutis Verticis Gyrata and Mental Retardation 15
1386 MDF004 Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 15
1387 CRN103 Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 14
1388 c RST016 Restless Legs Syndrome 7 14
1389 SPS193 Spastic Paraplegia, Epilepsy, and Mental Retardation 14
1390 CRM012 Cree Mental Retardation Syndrome 14
1391 c RST014 Restless Legs Syndrome 3 14
1392 c RST013 Restless Legs Syndrome 2 13
1393 HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 13
1394 c HRD203 Hereditary Lymphedema Id 13
1395 c GJC002 Gjc2-Related Late-Onset Primary Lymphedema 12
1396 MNT030 Mental Retardation Syndrome, Belgian Type 12
1397 MYT024 Myotonia with Skeletal Abnormalities and Mental Retardation 12
1398 c RST015 Restless Legs Syndrome 4 12
1399 CHR580 Choroid Plexus Calcification and Mental Retardation 12
1400 CTR179 Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy 12
1401 c STX006 Stxbp1-Related Encephalopathy 11
1402 MNT255 Mental Retardation and Psoriasis 11
1403 FCL076 Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 11
1404 c RST021 Restless Legs Syndrome 5 11
1405 MND028 Mandibulofacial Dysostosis with Mental Retardation 11
1406 SCR041 Sucrosuria, Hiatus Hernia and Mental Retardation 11
1407 FNC068 Functional Neurologic Disorder 10
1408 c RST019 Restless Legs Syndrome 8 10
1409 MRF017 Marfanoid Mental Retardation Syndrome, Autosomal 10
1410 TCP003 Tecpr2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability 10
1411 VTL010 Vitiligo, Progressive, with Mental Retardation and Urethral Duplication 10
1412 c DDX004 Ddx3x-Related Neurodevelopmental Disorder 10
1413 THR039 Thrombocytopenia Robin Sequence 10
1414 MNT299 Mental and Growth Retardation with Amblyopia 10
1415 C9R003 C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 10
1416 c ENC068 Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect 9
1417 SPS217 Spastic Paraplegia, Optic Atrophy, and Dementia 9
1418 CHD011 Chd8-Related Neurodevelopmental Disorder with Overgrowth 9
1419 EBF001 Ebf3 Neurodevelopmental Disorder 9
1420 STD002 Setd2 Neurodevelopmental Disorders 9
1421 CHD008 Chd4 Neurodevelopmental Disorder 9
1422 MNT250 Mental Retardation with Spastic Paraplegia 8
1423 HRD179 Hair Defect-Photosensitivity-Intellectual Disability Syndrome 7
1424 SPN453 Spondyloepiphyseal Dysplasia Tarda with Intellectual Disability 7
1425 c CLC065 Clcn4-Related Neurodevelopmental Disorder 7
1426 CTS013 Cutis Verticis Gyrata Mental Deficiency 6
1427 c HRD205 Hereditary Lymphedema Ib 6
1428 c CLS057 Celsr1-Related Late-Onset Primary Lymphedema 6
1429 BGT001 Bagatelle Cassidy Syndrome 6
1430 SHR110 Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 6
1431 MCR344 Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 6
1432 c CTR008 Cataract Congenital Autosomal Dominant 5
1433 c ERL064 Early-Onset Obesity-Hyperphagia-Severe Developmental Delay Syndrome 5
1434 ANM047 Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/mental Retardation Syndrome 5
1435 RRD017 Rare Developmental Defect with Connective Tissue Involvement 5
1436 CNT053 Cantu Sanchez-Corona Fragoso Syndrome 5
1437 CCN014 Ccnk-Related Neurodevelopmental Disorder-Severe Intellectual Disability-Facial Dysmorphism Syndrome 4
1438 DVL025 Developmental Anomaly of Metabolic Origin 4
1439 DVL133 Developmental Delay-Immunodeficiency-Leukoencephalopathy-Hypohomocysteinemia Syndrome 4
1440 SLC043 Slc12a2-Related Autosomal Recessive Neonatal-Developmental Delay-Intellectual Disability-Feeding Difficulty-Sensorineural Deafness Syndrome 4
1441 c FML049 Familial Band Heterotopia 4
1442 STR110 Structural Developmental Eye Defect of Genetic Origin 3
1443 RRC034 Rare Cerebrovascular Dementia 3
1444 MTB017 Metabolic Disease with Dementia 3
1445 GNT109 Genetic Frontotemporal Degeneration with Dementia 3
1446 GNT110 Genetic Neurodegenerative Disease with Dementia 3
1447 NDM001 Nedamss Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures 1
1448 P HRT032 Heart Disease 80
1449 P RTT002 Rett Syndrome 78
1450 P NNN008 Noonan Syndrome 1 76
1451 P ATS364 Autism 74
1452 P LVR013 Liver Disease 71
1453 c ATS007 Autism Spectrum Disorder 70
1454 P SLP006 Sleep Apnea 69
1455 DMN031 Dementia, Lewy Body 68
1456 ORT004 Orthostatic Intolerance 64
1457 MDD011 Mood Disorder 61
1458 ANR007 Anorexia Nervosa 61
1459 CHR066 Chronic Fatigue Syndrome 58
1460 P BPL003 Bipolar Disorder 57
1461 NRT001 Neurotic Disorder 57
1462 c ACT134 Acute Liver Failure 57
1463 P LRS001 Larsen Syndrome 56
1464 DYS009 Dysthymic Disorder 54
1465 SCH003 Schizophreniform Disorder 54
1466 END040 Endogenous Depression 53
1467 c CRN278 Craniosynostosis 1 53
1468 OPP004 Oppositional Defiant Disorder 53
1469 c PNT034 Pontocerebellar Hypoplasia, Type 2e 53
1470 SPC010 Speech and Communication Disorders 53
1471 BRD004 Borderline Personality Disorder 52
1472 P TBH003 Teebi Hypertelorism Syndrome 1 52
1473 P VND002 Van Der Woude Syndrome 52
1474 c NNN010 Noonan Syndrome 3 52
1475 BRX001 Bruxism 51
1476 SCH012 Schizoaffective Disorder 50
1477 PST021 Postpartum Depression 50
1478 CND002 Conduct Disorder 49
1479 NNT033 Neonatal Hypoxic and Ischemic Brain Injury 48
1480 SCL003 Social Phobia 48
1481 c BPL002 Bipolar I Disorder 47
1482 c CRN134 Cornelia De Lange Syndrome 2 47
1483 CCN001 Cocaine Dependence 47
1484 P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 47
1485 RMS001 Rem Sleep Behavior Disorder 46
1486 PRN009 Paranoid Schizophrenia 46
1487 IMP006 Impulse Control Disorder 46
1488 ANT011 Antisocial Personality Disorder 46
1489 BRN005 Brain Glioblastoma Multiforme 46
1490 AVD001 Avoidant Personality Disorder 45
1491 c TRC100 Trichothiodystrophy 3, Photosensitive 45
1492 c INF145 Infantile Liver Failure Syndrome 1 45
1493 P CRN321 Cornelia De Lange Syndrome 4 with or Without Midline Brain Defects 45
1494 LRN003 Learning Disability 45
1495 RNP003 Renpenning Syndrome 1 45
1496 DLS001 Delusional Disorder 45
1497 RDN001 Reading Disorder 44
1498 AGR002 Agoraphobia 44
1499 c NNN009 Noonan Syndrome 2 44
1500 DSS010 Dissociative Disorder 43
1501 P MJR007 Major Affective Disorder 1 43
1502 c CRN320 Cornelia De Lange Syndrome 3 with or Without Midline Brain Defects 43
1503 PHB001 Phobic Disorder 43
1504 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 42
1505 OBS003 Obsessive-Compulsive Personality Disorder 42
1506 c FTL006 Fetal Alcohol Spectrum Disorder 42
1507 c NNN012 Noonan Syndrome 5 42
1508 c MCR255 Microcephaly 9, Primary, Autosomal Recessive 42
1509 c CNT015 Central Sleep Apnea 41
1510 c CNG404 Congenital Heart Defects, Multiple Types, 4 41
1511 ALP112 Alpha-Aminoadipic and Alpha-Ketoadipic Aciduria 41
1512 INT025 Intermittent Explosive Disorder 41
1513 CYC005 Cyclothymic Disorder 41
1514 c NNN021 Noonan Syndrome 8 40
1515 P DYS005 Dyslexia 40
1516 c CRN209 Cornelia De Lange Syndrome 5 40
1517 SPR012 Separation Anxiety Disorder 40
1518 c NNN011 Noonan Syndrome 4 40
1519 DPR002 Depersonalization Disorder 40
1520 c CNG205 Congenital Disorder of Glycosylation, Type Ij 40
1521 c LVR030 Liver Failure, Infantile, Transient 40
1522 NPH039 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 40
1523 IDM001 Ideomotor Apraxia 40
1524 BDY001 Body Dysmorphic Disorder 40
1525 c CFF011 Coffin-Siris Syndrome 6 39
1526 SCH011 Schizotypal Personality Disorder 39
1527 c VND007 Van Der Woude Syndrome 1 39
1528 RTN231 Retinal Dystrophy with Leukodystrophy 38
1529 c NNN020 Noonan Syndrome 7 38
1530 CLB009 Coloboma of Iris 38
1531 DRG001 Drug Psychosis 38
1532 CNR033 Cone-Rod Synaptic Disorder, Congenital Nonprogressive 38
1533 P HYP263 Hypersomnia 37
1534 ANT019 Anterograde Amnesia 37
1535 SYN089 Syndromic X-Linked Intellectual Disability Snyder Type 37
1536 SPN415 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 37
1537 c NNN025 Noonan Syndrome 10 36
1538 VSL003 Visual Agnosia 36
1539 c NGH029 Night Blindness, Congenital Stationary, Type 1e 36
1540 RVR002 Reversible Cerebral Vasoconstriction Syndrome 36
1541 DYS004 Dyscalculia 36
1542 IMM056 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 36
1543 c NNN013 Noonan Syndrome 6 36
1544 c RTT008 Rett Syndrome, Congenital Variant 34
1545 ALC036 Alcohol-Related Birth Defects 34
1546 c MCR356 Microcephaly 19, Primary, Autosomal Recessive 34
1547 P SHR126 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2 34
1548 c NNN024 Noonan Syndrome 9 33
1549 c NNN034 Noonan Syndrome 12 33
1550 DYS003 Dysgraphia 33
1551 c RNG008 Ring Chromosome 13 33
1552 c SCH075 Schizophrenia 19 32
1553 c CRN281 Craniosynostosis 7 32
1554 HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 32
1555 c RCR002 Recurrent Hypersomnia 32
1556 c SCH051 Schizophrenia 4 32
1557 CCN009 Cocaine Intoxication 32
1558 c INF194 Infantile Liver Failure Syndrome 31
1559 c NNN036 Noonan Syndrome 13 31
1560 P ART169 Arthrogryposis Multiplex Congenita 6 31
1561 HYP711 Hypotonia, Ataxia, and Delayed Development Syndrome 31
1562 c MLT010 Multiple Personality Disorder 31
1563 CRN266 Craniofacial Dyssynostosis with Short Stature 31
1564 ATY012 Atypical Mycobacteriosis, Familial 31
1565 c INF138 Infantile Liver Failure Syndrome 2 31
1566 CRT007 Cortical Deafness 31
1567 c DNC007 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 30
1568 c NNN029 Noonan Syndrome 11 30
1569 ANH003 Anhaptoglobinemia 30
1570 c LRS002 Larsen-Like Syndrome 30
1571 CMP025 Camptodactyly, Tall Stature, and Hearing Loss Syndrome 29
1572 SPC003 Specific Developmental Disorder 29
1573 c CNG520 Congenital Heart Defects, Multiple Types, 6 29
1574 c ADV003 Advanced Sleep Phase Syndrome, Familial, 1 29
1575 MNT308 Mental Retardation with Optic Atrophy, Deafness, and Seizures 29
1576 c SCH080 Schizophrenia 3 29
1577 ANK013 Ankyloblepharon Filiforme Adnatum and Cleft Palate 29
1578 CHR707 Chromosome 13q33-Q34 Deletion Syndrome 28
1579 EXH001 Exhibitionism 28
1580 CHR190 Chromosome 12p Duplication 28
1581 PRM183 Primary Aldosteronism, Seizures, and Neurologic Abnormalities 28
1582 c SCH064 Schizophrenia 10 28
1583 c SYN064 Syndromic X-Linked Intellectual Disability 28
1584 c CNG617 Congenital Disorder of Glycosylation, Type Iit 28
1585 CNC001 Cancerophobia 28
1586 OST168 Osteosclerotic Metaphyseal Dysplasia 28
1587 RTN174 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 28
1588 c SCH061 Schizophrenia 16 28
1589 c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 28
1590 c DYS121 Dyslexia 1 28
1591 NRD059 Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy 28
1592 c CRN221 Craniosynostosis 4 28
1593 PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 28
1594 c SCH053 Schizophrenia 13 27
1595 c ART167 Arthrogryposis Multiplex Congenita 5 27
1596 CMB002 Combat Disorder 27
1597 c KHL004 Kohlschutter-Tonz Syndrome-Like 27
1598 c CNG511 Congenital Heart Defects, Multiple Types, 2 26
1599 c ADV007 Advanced Sleep Phase Syndrome, Familial, 2 26
1600 NRC003 Narcissistic Personality Disorder 26
1601 PRN010 Paranoid Personality Disorder 26
1602 c RNG013 Ring Chromosome 18 26
1603 ELC001 Elective Mutism 26
1604 c SCH084 Schizophrenia 8 26
1605 NZN001 Nizon-Isidor Syndrome 26
1606 c CNG622 Congenital Disorder of Glycosylation, Type 2v 26
1607 HST001 Histrionic Personality Disorder 26
1608 SCH004 Schizoid Personality Disorder 26
1609 c CRN256 Craniosynostosis 6 25
1610 FCL046 Focal Facial Dermal Dysplasia 4 25
1611 DPN001 Dependent Personality Disorder 25
1612 c LVR033 Liver Disease, Severe Congenital 25
1613 c CNG521 Congenital Heart Defects, Multiple Types, 5 25
1614 c NPH105 Nephrotic Syndrome, Type 17 25
1615 c ATS370 Autism 3 25
1616 INT339 Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature 25
1617 P CRD249 Cardioacrofacial Dysplasia 2 25
1618 RCH011 Rauch-Steindl Syndrome 25
1619 c INF190 Infantile Liver Failure Syndrome 3 25
1620 c SHR125 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 1 25
1621 FND007 Faundes-Banka Syndrome 25
1622 MTC230 Mitochondrial Complex I Deficiency, Nuclear Type 36 25
1623 CHR416 Chromosome 17q Deletion 25
1624 c DYS120 Dyslexia 2 25
1625 CRB227 Cerebellar Ataxia, Brain Abnormalities, and Cardiac Conduction Defects 25
1626 PRT001 Partial Fetal Alcohol Syndrome 24
1627 c CRT089 Cortical Dysplasia, Complex, with Other Brain Malformations 10 24
1628 c INT478 Intellectual Developmental Disorder, Autosomal Recessive 57 24
1629 c NNN038 Noonan Syndrome 14 24
1630 c TBH004 Teebi Hypertelorism Syndrome 2 24
1631 c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 24
1632 c SCH082 Schizophrenia 5 24
1633 BRT061 Buratti-Harel Syndrome 24
1634 c CNG616 Congenital Heart Defects, Multiple Types, 7 24
1635 CMB115 Combined Oxidative Phosphorylation Deficiency 55 24
1636 c EPL254 Epilepsy, Progressive Myoclonic, 11 23
1637 c LKD035 Leukodystrophy, Hypomyelinating, 22 23
1638 INT584 Intellectual Developmental Disorder with Speech Delay and Dysmorphic Facies 23
1639 c DYS219 Dystonia 33 23
1640 EXP001 Expressive Language Disorder 23
1641 KYB001 Kaya-Barakat-Masson Syndrome 23
1642 c BMN004 Biemond Syndrome Ii 23
1643 OST179 Osteootohepatoenteric Syndrome 23
1644 c SYN082 Syndromic X-Linked Intellectual Disability 14 23
1645 c RNG021 Ring Chromosome 5 22
1646 c ATS376 Autism 15 22
1647 c ATS474 Autism 20 22
1648 c ATS369 Autism 8 22
1649 LGH020 Li-Ghorbani-Weisz-Hubshman Syndrome 22
1650 c TRC127 Trichothiodystrophy 8, Nonphotosensitive 22
1651 NRD154 Neurodegeneration, Childhood-Onset, with Progressive Microcephaly 22
1652 c INT452 Intellectual Developmental Disorder, Autosomal Recessive 6 22
1653 BRN112 Brain Dopamine-Serotonin Vesicular Transport Disease 22
1654 SHR123 Short Stature and Microcephaly with Genital Anomalies 22
1655 TRK001 Triokinase and Fmn Cyclase Deficiency Syndrome 21
1656 c ATS378 Autism 17 20
1657 MTC224 Mitochondrial Complex Iv Deficiency, Nuclear Type 17 20
1658 c RNG014 Ring Chromosome 19 19
1659 c INT512 Intellectual Developmental Disorder, Autosomal Recessive 4 19
1660 MTC228 Mitochondrial Complex Iv Deficiency, Nuclear Type 21 18
1661 PRC021 Parc Syndrome 18
1662 c CRD248 Cardioacrofacial Dysplasia 1 18
1663 CLB008 Coloboma of Eye Lens 18
1664 P HYP284 Hypospadias 1, X-Linked 18
1665 c CNG385 Congenital Heart Defects, Multiple Types, 3 18
1666 P BMN001 Biemond Syndrome 18
1667 c ATS371 Autism 6 18
1668 c NNS073 Non-Syndromic X-Linked Intellectual Disability 2 18
1669 9P1001 9p13 Microdeletion Syndrome 17
1670 MTC221 Mitochondrial Complex Iv Deficiency, Nuclear Type 14 17
1671 HYP687 Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy 17
1672 VRB001 Verbal Auditory Agnosia 17
1673 c DYS125 Dyslexia 8 17
1674 c NNS086 Non-Syndromic X-Linked Intellectual Disability 91 16
1675 c ATS170 Autism 19 16
1676 PHN002 Phonagnosia 16
1677 c HYP270 Hypospadias 2, X-Linked 16
1678 c ATS372 Autism 7 16
1679 APP006 Apperceptive Agnosia 16
1680 CHR239 Chromosome 2q Deletion 16
1681 KSZ002 Kosztolanyi Syndrome 15
1682 c ATS374 Autism 12 15
1683 LKD038 Leukodystrophy, Childhood-Onset, Remitting 15
1684 c ATS171 Autism 9 15
1685 c ATS172 Autism 10 15
1686 c ATS373 Autism 11 14
1687 c ATS375 Autism 13 14
1688 MDR001 Medeira-Dennis-Donnai Syndrome 14
1689 c INT511 Intellectual Developmental Disorder, Autosomal Recessive 11 14
1690 c ART171 Arthrogryposis Multiplex Congenita-3 14
1691 c NNS085 Non-Syndromic X-Linked Intellectual Disability 90 13
1692 c NNS076 Non-Syndromic X-Linked Intellectual Disability 58 13
1693 c NNS094 Non-Syndromic X-Linked Intellectual Disability 72 13
1694 c ART170 Arthrogryposis Multiplex Congenita-1 13
1695 c DYS122 Dyslexia 3 13
1696 c ART172 Arthrogryposis Multiplex Congenita-4 12
1697 c NNS081 Non-Syndromic X-Linked Intellectual Disability 81 11
1698 c DYS124 Dyslexia 6 11
1699 ORG003 Organic Mood Syndrome 11
1700 c DYS123 Dyslexia 5 10
1701 c DYS126 Dyslexia 9 10
1702 c NNS074 Non-Syndromic X-Linked Intellectual Disability 19 9
1703 EGD001 Ego-Dystonic Sexual Orientation 8
1704 c HYP653 Hypospadias 4, X-Linked 7
1705 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 7
1706 c RRD010 Rare Disease with Autism 7
1707 VSL001 Visual Verbal Agnosia 6
1708 c NNS079 Non-Syndromic X-Linked Intellectual Disability 84 6
1709 c NNS091 Non-Syndromic X-Linked Intellectual Disability 88 6
1710 c ATS531 Autosomal Recessive Intellectual Developmental Disorder 75 6
1711 c ATS530 Autosomal Recessive Intellectual Developmental Disorder 34 5
1712 c BPL001 Bipolar Ll Disorder 4
1713 c CRN093 Craniosynostosis Autosomal Dominant 4
1714 FTL063 Fetal Nicotine Spectrum Disorder 3
1715 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 49
1716 ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 25
1717 ENC039 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 50
1718 P HRD021 Hereditary Sensory Neuropathy 54
1719 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 54
1720 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 42
1721 c NRP039 Neuropathy, Hereditary Sensory, Type Id 41
1722 CNG495 Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay 37
1723 c NRP036 Neuropathy, Hereditary Sensory, Type if 29
1724 CHR696 Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia 28
1725 c SPT021 Sptlc1-Related Hereditary Sensory Neuropathy 15
1726 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 35
1727 CNG382 Congenital Cataracts, Hearing Loss, and Neurodegeneration 29
1728 INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 27
1729 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 45
1730 OPT062 Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures 43
1731 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 41
1732 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 39
1733 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 38
1734 c CHR697 Charcot-Marie-Tooth Disease X-Linked Recessive 4 37
1735 MMS001 Momo Syndrome 29
1736 DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 17
1737 RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 15
1738 SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 59
1739 RYS001 Reye Syndrome 52
1740 BHR001 Behr Syndrome 41
1741 SQL002 Squalene Synthase Deficiency 29
1742 NRD073 Neurodevelopmental Disorder with Visual Defects and Brain Anomalies 24
1743 HLP033 Halperin-Birk Syndrome 23
1744 NRD104 Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities 23
1745 TLC002 Tolchin-Le Caignec Syndrome 22
1746 c MCR256 Microphthalmia, Syndromic 9 68
1747 CNV004 Canavan Disease 65
1748 c MCR241 Microphthalmia, Syndromic 3 59
1749 HPT019 Hepatic Encephalopathy 59
1750 INS001 Insulinoma 59
1751 c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 58
1752 c MCR261 Microphthalmia, Syndromic 2 52
1753 c MCR263 Microphthalmia, Syndromic 1 51
1754 c MCR251 Microphthalmia, Syndromic 6 50
1755 SCH018 Schizencephaly 48
1756 c MCR245 Microphthalmia, Syndromic 8 46
1757 c MCR252 Microphthalmia, Syndromic 5 43
1758 c MCR212 Microphthalmia, Syndromic 12 42
1759 c MCR312 Microphthalmia, Syndromic 10 40
1760 NVS015 Nevus Comedonicus 35
1761 P SYN165 Syndromic Microphthalmia 34
1762 c MCR228 Microphthalmia, Syndromic 13 33
1763 c INC033 Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2 30
1764 c MCR392 Microphthalmia, Syndromic 16 30
1765 c MCR217 Microphthalmia, Syndromic 11 23
1766 NRD170 Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment 20
1767 OPT078 Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome 17
1768 NRD175 Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects 16
1769 NRD173 Neurodevelopmental Disorder with Dysmorphic Facies and Skeletal and Brain Abnormalities 16
1770 c BSL007 Basal Cell Carcinoma 67
1771 P FTL069 Fetal Akinesia Deformation Sequence 1 62
1772 P FTL002 Fatal Familial Insomnia 56
1773 P PLG001 Pelger-Huet Anomaly 52
1774 CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 52
1775 WRN002 Wernicke-Korsakoff Syndrome 51
1776 HGH044 High Grade Ependymoma 49
1777 NGL007 Ngly1-Deficiency 46
1778 INF129 Infantile Cerebellar-Retinal Degeneration 45
1779 SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 43
1780 BRN134 Brain Malformations with or Without Urinary Tract Defects 41
1781 AMD002 Amed Syndrome, Digenic 40
1782 WST002 Western Equine Encephalitis 39
1783 c SPN364 Spinocerebellar Ataxia, X-Linked 3 39
1784 c CRN277 Craniosynostosis 2 38
1785 P STR001 Striatonigral Degeneration 38
1786 c FTL070 Fetal Akinesia Deformation Sequence 2 38
1787 CBL011 Cebalid Syndrome 37
1788 c FTL072 Fetal Akinesia Deformation Sequence 4 36
1789 c STR085 Striatonigral Degeneration, Infantile 35
1790 MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 32
1791 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 31
1792 c FTL071 Fetal Akinesia Deformation Sequence 3 31
1793 WYB002 Wyburn-Mason Syndrome 30
1794 MNT118 Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 28
1795 CHR713 Chromosome Xq21 Deletion Syndrome 27
1796 NRD051 Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness 27
1797 SCP013 Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development 27
1798 NRP046 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers 24
1799 8P2002 8p23.1 Duplication Syndrome 24
1800 RDL026 Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome 23
1801 GGN006 Gigantiform Cementoma, Familial 21
1802 SND006 Sonoda Syndrome 21
1803 c OST149 Osteolysis Syndrome, Recessive 19
1804 MTP027 Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome 19
1805 CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 18
1806 ARL006 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 18
1807 HST012 Histidinuria Renal Tubular Defect 17
1808 NRD172 Neurodevelopmental Disorder with Poor Growth, Spastic Tetraplegia, and Hearing Loss 15
1809 c BCL018 Bcl11a-Related Intellectual Disability 15
1810 c SPR166 Sporadic Fatal Insomnia 15
1811 ECT104 Ectodermal Dysplasia with Mental Retardation and Syndactyly 14
1812 GRW038 Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 13
1813 EHL082 Ehlers-Danlos Syndrome, Beasley-Cohen Type 13
1814 RNL121 Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 13
1815 EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 12
1816 NPH050 Nephropathy, Progressive, with Deafness 12
1817 SPN396 Spinal Muscular Atrophy with Mental Retardation 12
1818 RRR001 Rere-Related Disorders 12
1819 c PSD024 Pseudo Pelger-Huet Anomaly 11
1820 PRN067 Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 10
1821 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 9
1822 P PRM337 Primary Osteolysis 9
1823 SPT025 Sptbn4 Disorder 9
1824 RRG014 Rare Genetic Developmental Defect During Embryogenesis 7
1825 EMP013 Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation 5
1826 DSL004 Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 5
1827 PRG135 Progressive Dementia with Neuroserpin Inclusion Bodies 5
1828 KZN001 Kuzniecky Andermann Syndrome 4
1829 RRD016 Rare Developmental Defect with Skin/mucosae Involvement 4
1830 P MJR001 Major Depressive Disorder 75
1831 BRN028 Brain Cancer 75
1832 P JBR020 Joubert Syndrome 1 72
1833 c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 69
1834 PSY004 Psychotic Disorder 69
1835 APN008 Apnea, Obstructive Sleep 68
1836 OBS002 Obsessive-Compulsive Disorder 67
1837 ALC007 Alcohol Dependence 65
1838 c ART144 Arthrogryposis, Distal, Type 1a 65
1839 c PRX045 Peroxisome Biogenesis Disorder 1b 65
1840 P TTH002 Tooth Agenesis 63
1841 P PRS038 Personality Disorder 63
1842 c PNS012 Paine Syndrome 63
1843 P EPL198 Epilepsy, Myoclonic Juvenile 62
1844 P DST002 Distal Arthrogryposis 61
1845 c ART061 Arthrogryposis, Distal, Type 2a 60
1846 c PRX059 Peroxisome Biogenesis Disorder 1a 59
1847 PST028 Post-Traumatic Stress Disorder 59
1848 P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 59
1849 c LSS005 Lissencephaly 1 59
1850 DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 59
1851 c LSS006 Lissencephaly 2 59
1852 c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 58
1853 BLM002 Bulimia Nervosa 58
1854 c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 58
1855 P LMB006 Limb-Girdle Muscular Dystrophy 56
1856 c ART120 Arthrogryposis, Distal, Type 3 55
1857 APH002 Aphasia 55
1858 c JBR041 Joubert Syndrome 3 55
1859 GNR004 Generalized Anxiety Disorder 54
1860 DSS008 Disease of Mental Health 53
1861 c LKD019 Leukodystrophy, Hypomyelinating, 6 53
1862 P LSS037 Lissencephaly, X-Linked, 2 53
1863 c ART119 Arthrogryposis, Distal, Type 5 53
1864 P PRV006 Pervasive Developmental Disorder 53
1865 STT041 Stuttering 53
1866 c PNT057 Pontocerebellar Hypoplasia, Type 1e 52
1867 APR001 Apraxia 52
1868 P BSL038 Basal Ganglia Calcification, Idiopathic, 1 52
1869 P TCD001 Tic Disorder 52
1870 MNT002 Mental Depression 51
1871 c LKD010 Leukodystrophy, Hypomyelinating, 2 51
1872 c LKD009 Leukodystrophy, Hypomyelinating, 5 50
1873 SMT006 Somatoform Disorder 50
1874 c CHR656 Charcot-Marie-Tooth Disease, Demyelinating, Type 1f 50
1875 c ART155 Arthrogryposis, Distal, Type 2b1 50
1876 MLD018 Mild Cognitive Impairment 50
1877 c MSC176 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 50
1878 c JBR004 Joubert Syndrome 2 50
1879 c PNT049 Pontocerebellar Hypoplasia, Type 2d 50
1880 c PNT037 Pontocerebellar Hypoplasia, Type 3 49
1881 c MSC175 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 49
1882 HYP016 Hypochondriasis 49
1883 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 49
1884 c JBR012 Joubert Syndrome 5 48
1885 PRG033 Progressive Non-Fluent Aphasia 48
1886 c LSS036 Lissencephaly, X-Linked, 1 48
1887 c MSC173 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 48
1888 ADJ001 Adjustment Disorder 48
1889 c JBR013 Joubert Syndrome 8 48
1890 c CHR647 Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 48
1891 c ART147 Arthrogryposis, Distal, Type 7 48
1892 P CHR345 Chronic Pain 48
1893 P ASP001 Asperger Syndrome 47
1894 FRG008 Fragile X-Associated Tremor/ataxia Syndrome 47
1895 c JBR025 Joubert Syndrome 17 47
1896 c LKD020 Leukodystrophy, Hypomyelinating, 10 47
1897 ARB005 Arboleda-Tham Syndrome 47
1898 c JBR024 Joubert Syndrome 14 47
1899 c MSC178 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 47
1900 P PNT019 Pontocerebellar Hypoplasia 46
1901 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 46
1902 c JBR035 Joubert Syndrome 24 46
1903 c JBR043 Joubert Syndrome 32 46
1904 c MSC172 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 46
1905 c JBR031 Joubert Syndrome 21 46
1906 c CHR670 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 46
1907 c ATS279 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 46
1908 c INT520 Intellectual Developmental Disorder, Autosomal Dominant 7 46
1909 c PNT043 Pontocerebellar Hypoplasia, Type 4 46
1910 c LSS010 Lissencephaly 4 46
1911 c JBR022 Joubert Syndrome 20 45
1912 c JBR011 Joubert Syndrome 7 45
1913 c PNT045 Pontocerebellar Hypoplasia, Type 1a 45
1914 c ATS207 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 45
1915 c FML363 Familial Adult Myoclonic Epilepsy 44
1916 c MSC174 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 44
1917 c JBR026 Joubert Syndrome 15 44
1918 c PNT044 Pontocerebellar Hypoplasia, Type 2a 44
1919 c JBR042 Joubert Syndrome 23 44
1920 c MSC177 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 43
1921 c JBR018 Joubert Syndrome 4 43
1922 c JBR016 Joubert Syndrome 10 43
1923 c ATS246 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 43
1924 c ART104 Arthrogryposis, Distal, Type 5d 43
1925 c MSC171 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 43
1926 c LSS009 Lissencephaly 3 43
1927 c PNT051 Pontocerebellar Hypoplasia, Type 1d 43
1928 XLN195 X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome 43
1929 P NNS032 Non-Syndromic X-Linked Intellectual Disability 43
1930 c ATS277 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 43
1931 c MYC083 Myoclonic Epilepsy, Familial Infantile 43
1932 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 42
1933 P INT399 Intellectual Developmental Disorder, X-Linked 109 42
1934 CYC008 Cyclic Vomiting Syndrome 42
1935 c ATS217 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 42
1936 INT504 Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 41
1937 c PNT035 Pontocerebellar Hypoplasia, Type 1c 41
1938 c CHR653 Charcot-Marie-Tooth Disease, Demyelinating, Type 1d 41
1939 c MSC179 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 41
1940 CHR501 Chromosome 17q12 Deletion Syndrome 41
1941 c ART157 Arthrogryposis, Distal, Type 2b3 41
1942 c LKD016 Leukodystrophy, Hypomyelinating, 9 41
1943 c MSC180 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 41
1944 c PNT039 Pontocerebellar Hypoplasia, Type 7 41
1945 c JBR015 Joubert Syndrome 6 40
1946 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 40
1947 c JBR030 Joubert Syndrome 22 40
1948 P KNB001 Knobloch Syndrome 40
1949 P CNG629 Congenital Disorder of Deglycosylation 1 39
1950 c LSS025 Lissencephaly 5 39
1951 c INT536 Intellectual Developmental Disorder, Autosomal Dominant 21 39
1952 c JBR028 Joubert Syndrome 13 39
1953 c PRX054 Peroxisome Biogenesis Disorder 12a 39
1954 c JBR037 Joubert Syndrome 26 39
1955 c LSS042 Lissencephaly 10 39
1956 c JBR027 Joubert Syndrome 16 39
1957 c LKD008 Leukodystrophy, Hypomyelinating, 4 39
1958 c PRX055 Peroxisome Biogenesis Disorder 11a 39
1959 c MSC183 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 39
1960 c MSC181 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 38
1961 ASP024 Asparagine Synthetase Deficiency 38
1962 c SCH056 Schizophrenia 15 38
1963 c PNT050 Pontocerebellar Hypoplasia, Type 11 38
1964 c ATS525 Autosomal Dominant Intellectual Developmental Disorder 8 38
1965 c INT542 Intellectual Developmental Disorder, Autosomal Dominant 29 37
1966 c LKD021 Leukodystrophy, Hypomyelinating, 11 37
1967 c JBR036 Joubert Syndrome 25 37
1968 c KNB006 Knobloch Syndrome 1 37
1969 c ART156 Arthrogryposis, Distal, Type 2b2 37
1970 c PRX063 Peroxisome Biogenesis Disorder 2a 37
1971 c JBR021 Joubert Syndrome 18 37
1972 c MSC184 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 37
1973 c ART112 Arthrogryposis, Distal, Type 10 37
1974 c EPL203 Epilepsy, Familial Adult Myoclonic, 2 36
1975 c ATS299 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 36
1976 c JBR040 Joubert Syndrome 30 36
1977 P ENC056 Encephalopathy, Acute, Infection-Induced 4 36
1978 c ATS211 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 36
1979 c PRX060 Peroxisome Biogenesis Disorder 5a 36
1980 P HYP700 Hypomyelinating Leukodystrophy 36
1981 c INT455 Intellectual Developmental Disorder, Autosomal Dominant 56 35
1982 c LSS035 Lissencephaly 8 35
1983 DVL001 Developmental Coordination Disorder 35
1984 c PRX050 Peroxisome Biogenesis Disorder 9b 35
1985 c ART168 Arthrogryposis, Distal, Type 1c 35
1986 c JBR045 Joubert Syndrome 33 35
1987 c EPL155 Epilepsy, Progressive Myoclonic, 8 35
1988 c EPL207 Epilepsy, Progressive Myoclonic, 1b 34
1989 FTL007 Fetal Hydantoin Syndrome 34
1990 c PNT052 Pontocerebellar Hypoplasia, Type 12 34
1991 PRC054 Perching Syndrome 34
1992 MLD017 Mal De Debarquement Syndrome 34
1993 c MSC189 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 34
1994 c EPL134 Epilepsy, Progressive Myoclonic 7 34
1995 c JBR014 Joubert Syndrome 9 34
1996 c PRX057 Peroxisome Biogenesis Disorder 4a 34
1997 c PNT030 Pontocerebellar Hypoplasia, Type 8 34
1998 c PNT042 Pontocerebellar Hypoplasia, Type 2f 34
1999 c PRX065 Peroxisome Biogenesis Disorder 3a 34
2000 c LMB073 Limb-Girdle Muscular Dystrophy Type 1a 34
2001 c INT550 Intellectual Developmental Disorder, Autosomal Dominant 41 34
2002 MCR321 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 34
2003 VNT030 Ventriculomegaly with Cystic Kidney Disease 33
2004 c PRX051 Peroxisome Biogenesis Disorder 6a 33
2005 c CRT081 Cortical Dysplasia, Complex, with Other Brain Malformations 7 33
2006 CHR379 Chromosome 15q26-Qter Deletion Syndrome 33
2007 c INT514 Intellectual Developmental Disorder, Autosomal Dominant 3 32
2008 c PRX046 Peroxisome Biogenesis Disorder 7a 32
2009 MGC007 Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations 32
2010 c EPL053 Epilepsy, Familial Adult Myoclonic, 3 32
2011 c HYP698 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 32
2012 MRC001 Marchiafava Bignami Disease 32
2013 c INT430 Intellectual Developmental Disorder, X-Linked 98 32
2014 c INT551 Intellectual Developmental Disorder, Autosomal Dominant 43 32
2015 c HYP723 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 32
2016 SDN002 Sudanophilic Cerebral Sclerosis 32
2017 c INT557 Intellectual Developmental Disorder, Autosomal Dominant 48 32
2018 SYN091 Syndromic X-Linked Intellectual Disability Nascimento Type 32
2019 SML010 Simultanagnosia 31
2020 RMN001 Rumination Disorder 31
2021 BSL045 Basel-Vanagaite-Smirin-Yosef Syndrome 31
2022 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 31
2023 c PRX048 Peroxisome Biogenesis Disorder 10a 31
2024 DSS002 Dissociative Amnesia 31
2025 c EPL201 Epilepsy, Familial Adult Myoclonic, 1 31
2026 WSS006 Weiss-Kruszka Syndrome 31
2027 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 31
2028 c INT507 Intellectual Developmental Disorder, Autosomal Recessive 5 31
2029 c EPL188 Epilepsy, Progressive Myoclonic, 10 31
2030 c RNG017 Ring Chromosome 21 31
2031 P ATS522 Autosomal Dominant Intellectual Developmental Disorder 31
2032 RGN005 Regional Odontodysplasia 31
2033 ENC059 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity 30
2034 P PRX064 Peroxisome Biogenesis Disorder 2b 30
2035 CHR265 Chromosome 8p Duplication 30
2036 c ART060 Arthrogryposis, Distal, Type 1b 30
2037 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 30
2038 c RNG004 Ring Chromosome 1 30
2039 c JBR039 Joubert Syndrome 28 30
2040 c PRX058 Peroxisome Biogenesis Disorder 4b 30
2041 c PRX052 Peroxisome Biogenesis Disorder 13a 30
2042 c EPL103 Epilepsy, Familial Adult Myoclonic, 5 30
2043 c INT549 Intellectual Developmental Disorder, Autosomal Dominant 38 30
2044 c SPS244 Spastic Paraplegia 86, Autosomal Recessive 30
2045 c PNT046 Pontocerebellar Hypoplasia, Type 5 30
2046 c SCH087 Schizophrenia 18 29
2047 c PNT056 Pontocerebellar Hypoplasia, Type 15 29
2048 CHR209 Chromosome 17p Duplication 29
2049 c CFF017 Coffin-Siris Syndrome 12 29
2050 c PRX066 Peroxisome Biogenesis Disorder 3b 29
2051 c MSC191 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 29
2052 c EPL154 Epilepsy, Progressive Myoclonic, 9 28
2053 c PRX091 Peroxisome Biogenesis Disorder 8a 28
2054 c PRX043 Peroxisome Biogenesis Disorder 6b 28
2055 MSC016 Mosaic Trisomy 14 28
2056 c PRX047 Peroxisome Biogenesis Disorder 5b 28
2057 c RNG024 Ring Chromosome 8 28
2058 c PRX053 Peroxisome Biogenesis Disorder 14b 28
2059 PST044 Postorgasmic Illness Syndrome 28
2060 c MYC086 Myoclonic Epilepsy, Juvenile 4 28
2061 c PNT047 Pontocerebellar Hypoplasia, Type 2b 28
2062 c LKD028 Leukodystrophy, Hypomyelinating, 15 28
2063 c CRN217 Craniosynostosis 3 28
2064 c LKD030 Leukodystrophy, Hypomyelinating, 17 28
2065 16Q001 16q24.3 Microdeletion Syndrome 28
2066 c ATS527 Autosomal Dominant Intellectual Developmental Disorder 31 28
2067 c SCH085 Schizophrenia 2 27
2068 c PRX068 Peroxisome Biogenesis Disorder 7b 27
2069 c MYC068 Myoclonic Epilepsy of Infancy 27
2070 THV001 Thauvin-Robinet-Faivre Syndrome 27
2071 c EPL107 Epilepsy, Familial Adult Myoclonic, 4 27
2072 c ART128 Arthrogryposis, Distal, Type 6 27
2073 c ART131 Arthrogryposis, Distal, Type 4 27
2074 c INT562 Intellectual Developmental Disorder, Autosomal Dominant 54 27
2075 c INT563 Intellectual Developmental Disorder, Autosomal Dominant 57 27
2076 SYN079 Syndromic X-Linked Intellectual Disability Siderius Type 27
2077 INT369 Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type 27
2078 c MSC187 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 27
2079 c JBR044 Joubert Syndrome 31 27
2080 c EPL228 Epilepsy, Familial Adult Myoclonic, 7 27
2081 P HRD084 Hereditary Cerebral Amyloid Angiopathy 27
2082 c ENC060 Encephalopathy, Acute, Infection-Induced 1 27
2083 c INT517 Intellectual Developmental Disorder, Autosomal Recessive 13 27
2084 c ATS333 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 27
2085 NVD003 Nevoid Hypermelanosis, Linear and Whorled 27
2086 c BSL032 Basal Ganglia Calcification, Idiopathic, 4 26
2087 c PNT055 Pontocerebellar Hypoplasia, Type 14 26
2088 c LKD027 Leukodystrophy, Hypomyelinating, 14 26
2089 c BSL046 Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive 26
2090 c PRX062 Peroxisome Biogenesis Disorder 8b 26
2091 c LKD031 Leukodystrophy, Hypomyelinating, 18 26
2092 c EPL227 Epilepsy, Familial Adult Myoclonic, 6 26
2093 WCK004 Wieacker-Wolff Syndrome, Female-Restricted 26
2094 c INT561 Intellectual Developmental Disorder, Autosomal Dominant 53 26
2095 c JBR049 Joubert Syndrome 37 26
2096 DRG004 Drug-Induced Mental Disorder 26
2097 RDT018 Radio-Tartaglia Syndrome 25
2098 INT458 Intellectual Developmental Disorder, Autosomal Recessive 18, with or Without Epilepsy 25
2099 LSS039 Lissencephaly 6 with Microcephaly 25
2100 c RTS005 Ritscher-Schinzel Syndrome 4 25
2101 c LKD029 Leukodystrophy, Hypomyelinating, 16 25
2102 c LMB074 Limb-Girdle Muscular Dystrophy Type 1b 25
2103 c DYS185 Dystonia 13, Torsion, Autosomal Dominant 25
2104 c CNG630 Congenital Disorder of Deglycosylation 2 25
2105 c ATS358 Autism X-Linked 6 25
2106 c SCH073 Schizophrenia 9 25
2107 c BSL049 Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive 25
2108 c KNB005 Knobloch Syndrome 2 25
2109 c INT506 Intellectual Developmental Disorder, Autosomal Recessive 3 24
2110 NRD068 Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia 24
2111 c PRX056 Peroxisome Biogenesis Disorder 11b 24
2112 c INT523 Intellectual Developmental Disorder, Autosomal Dominant 10 24
2113 c BSL035 Basal Ganglia Calcification, Idiopathic, 5 24
2114 c ATS524 Autosomal Dominant Intellectual Developmental Disorder 6 24
2115 c INT471 Intellectual Developmental Disorder, Autosomal Recessive 27 24
2116 HLP032 Holoprosencephaly 13, X-Linked 24
2117 c ATS332 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 24
2118 c INT344 Intellectual Developmental Disorder, Autosomal Recessive 69 24
2119 c INT336 Intellectual Developmental Disorder, Autosomal Recessive 68 24
2120 c ATS268 Autism X-Linked 4 24
2121 c CHR724 Charcot-Marie-Tooth Disease, Demyelinating, Type 1i 24
2122 c JBR047 Joubert Syndrome 35 24
2123 c BSL039 Basal Ganglia Calcification, Idiopathic, 6 24
2124 16P004 16p13.11 Microduplication Syndrome 24
2125 c JBR038 Joubert Syndrome 27 24
2126 c ADV006 Advanced Sleep Phase Syndrome, Familial, 3 24
2127 c INT559 Intellectual Developmental Disorder, Autosomal Dominant 51 24
2128 MYC075 Myoclonus, Intractable, Neonatal 24
2129 SPN425 Spondyloepimetaphyseal Dysplasia, Krakow Type 24
2130 c INT477 Intellectual Developmental Disorder, Autosomal Recessive 74 24
2131 c INT397 Intellectual Developmental Disorder, X-Linked 50 24
2132 c JBR050 Joubert Syndrome 38 24
2133 ADT001 Auditory Agnosia 24
2134 c NNS112 Non-Syndromic X-Linked Intellectual Disability 21 24
2135 c ENC064 Encephalopathy, Acute, Infection-Induced 8 24
2136 c LKD032 Leukodystrophy, Hypomyelinating, 19, Transient Infantile 23
2137 c ASP032 Asperger Syndrome 1 23
2138 c INT462 Intellectual Developmental Disorder, Autosomal Dominant 34 23
2139 c INT345 Intellectual Developmental Disorder, Autosomal Recessive 70 23
2140 c ENC037 Encephalopathy, Acute, Infection-Induced 6 23
2141 c MSC186 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 23
2142 c CFF016 Coffin-Siris Syndrome 11 23
2143 c INT540 Intellectual Developmental Disorder, Autosomal Recessive 44 23
2144 c CHR725 Charcot-Marie-Tooth Disease, Demyelinating, Type 1h 23
2145 c JBR048 Joubert Syndrome 36 23
2146 c CHR681 Charcot-Marie-Tooth Disease, Demyelinating, Type 1g 23
2147 ONY008 Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, and Seizures Syndrome 23
2148 c INT364 Intellectual Developmental Disorder, Autosomal Recessive 72 23
2149 c INT468 Intellectual Developmental Disorder, Autosomal Recessive 66 23
2150 INT456 Intellectual Developmental Disorder with Hypotonia, Impaired Speech, and Dysmorphic Facies 23
2151 CHR639 Chromosome Xp11.22 Duplication Syndrome 23
2152 c CRN216 Craniosynostosis 5 23
2153 MCR253 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma 23
2154 CRP036 Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome 23
2155 c MYC085 Myoclonic Epilepsy, Juvenile 3 23
2156 c JBR051 Joubert Syndrome 39 23
2157 c CNT068 Central Pain Syndrome 22
2158 ATX050 Ataxia, Intention Tremor, and Hypotonia Syndrome, Childhood-Onset 22
2159 c ATS529 Autosomal Dominant Intellectual Developmental Disorder 40 22
2160 c MSC202 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 22
2161 c NPH107 Nephrotic Syndrome, Type 19 22
2162 c PNT048 Pontocerebellar Hypoplasia, Type 2c 22
2163 c INT398 Intellectual Developmental Disorder, Autosomal Recessive 12 22
2164 c JBR052 Joubert Syndrome 40 22
2165 c EPL210 Epilepsy, Progressive Myoclonic, 6 22
2166 c ENC070 Encephalopathy, Acute, Infection-Induced 9 22
2167 LNG104 Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia 22
2168 c INT519 Intellectual Developmental Disorder, Autosomal Recessive 14 22
2169 c GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 22
2170 c NNS088 Non-Syndromic X-Linked Intellectual Disability 63 22
2171 c INT474 Intellectual Developmental Disorder, Autosomal Recessive 43 22
2172 SPN409 Spongiform Encephalopathy with Neuropsychiatric Features 22
2173 CHR507 Chromosome Xq27.3-Q28 Duplication Syndrome 22
2174 c ENC063 Encephalopathy, Acute, Infection-Induced 7 22
2175 c LKD033 Leukodystrophy, Hypomyelinating, 20 21
2176 c EPL217 Epilepsy, Juvenile Myoclonic 10 21
2177 c INT553 Intellectual Developmental Disorder, Autosomal Recessive 60 21
2178 c INT480 Intellectual Developmental Disorder, Autosomal Recessive 73 21
2179 c PRX089 Peroxisome Biogenesis Disorder 10b 21
2180 c LKD034 Leukodystrophy, Hypomyelinating, 21 21
2181 c INT565 Intellectual Developmental Disorder, Autosomal Recessive 64 21
2182 CRB164 Cerebrooculonasal Syndrome 21
2183 MLT148 Multiple Pterygium Syndrome, X-Linked 21
2184 CMB101 Combined Oxidative Phosphorylation Deficiency 45 21
2185 c PNT060 Pontocerebellar Hypoplasia, Type 17 21
2186 c ENC062 Encephalopathy, Acute, Infection-Induced 5 21
2187 c INT464 Intellectual Developmental Disorder, Autosomal Recessive 51 21
2188 P USM001 Usmani-Riazuddin Syndrome, Autosomal Dominant 21
2189 BDY022 Body Integrity Dysphoria 21
2190 19P001 19p13.12 Microdeletion Syndrome 20
2191 c EPL257 Epilepsy, Progressive Myoclonic, 12 20
2192 c MSC199 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 20
2193 c ENC072 Encephalopathy, Acute, Infection-Induced 10 20
2194 c INT534 Intellectual Developmental Disorder, Autosomal Recessive 35 20
2195 c ATS354 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z 20
2196 c INT564 Intellectual Developmental Disorder, Autosomal Recessive 63 20
2197 INF174 Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 19
2198 MTC222 Mitochondrial Complex Iv Deficiency, Nuclear Type 15 19
2199 c ART175 Arthrogryposis, Distal, Type 11 19
2200 SYN083 Syndromic X-Linked Intellectual Disability Shashi Type 19
2201 DSS025 Dissociative Seizures 19
2202 c INT467 Intellectual Developmental Disorder, Autosomal Recessive 56 19
2203 c ART054 Arthrogryposis, Distal, Type 2e 18
2204 MTC226 Mitochondrial Complex Iv Deficiency, Nuclear Type 19 18
2205 c LSS044 Lissencephaly 6 18
2206 c INT576 Intellectual Developmental Disorder, Autosomal Recessive 76 18
2207 c INT541 Intellectual Developmental Disorder, Autosomal Recessive 45 18
2208 c ASP031 Asperger Syndrome 2 18
2209 c INT463 Intellectual Developmental Disorder, Autosomal Recessive 50 18
2210 c NNS119 Non-Syndromic X-Linked Intellectual Disability 96 18
2211 DFN391 Deafness, Cataract, Impaired Intellectual Development, and Polyneuropathy 17
2212 c INT465 Intellectual Developmental Disorder, Autosomal Recessive 52 17
2213 c USM002 Usmani-Riazuddin Syndrome, Autosomal Recessive 17
2214 c INT531 Intellectual Developmental Disorder, Autosomal Recessive 25 17
2215 c INT510 Intellectual Developmental Disorder, Autosomal Recessive 10 17
2216 c NNS124 Non-Syndromic X-Linked Intellectual Disability 101 17
2217 c NGL006 Ngly1-Related Congenital Disorder of Deglycosylation 17
2218 c CHR732 Charcot-Marie-Tooth Disease, Demyelinating, Type 1j 17
2219 c MJR013 Major Depressive Disorder 1 16
2220 c INT526 Intellectual Developmental Disorder, Autosomal Recessive 33 16
2221 c INT530 Intellectual Developmental Disorder, Autosomal Recessive 24 16
2222 c MJR014 Major Depressive Disorder 2 16
2223 c SYN077 Syndromic X-Linked Intellectual Disability 12 16
2224 c NNS118 Non-Syndromic X-Linked Intellectual Disability 99 16
2225 c INT525 Intellectual Developmental Disorder, Autosomal Recessive 29 16
2226 c INT522 Intellectual Developmental Disorder, Autosomal Recessive 16 15
2227 c INT532 Intellectual Developmental Disorder, Autosomal Recessive 28 15
2228 c EPL186 Epilepsy, Juvenile Myoclonic 9 15
2229 c PMG002 Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 14
2230 c NNS123 Non-Syndromic X-Linked Intellectual Disability 97 14
2231 c INT524 Intellectual Developmental Disorder, Autosomal Recessive 31 14
2232 c NNS114 Non-Syndromic X-Linked Intellectual Disability 106 14
2233 DYS044 Dysmorphism Cleft Palate Loose Skin 14
2234 ALC013 Alcohol-Induced Mental Disorder 13
2235 c ASP033 Asperger Syndrome 3 13
2236 c NNS122 Non-Syndromic X-Linked Intellectual Disability 98 12
2237 c ASP034 Asperger Syndrome 4 12
2238 c NNS125 Non-Syndromic X-Linked Intellectual Disability 107 10
2239 c NNS130 Non-Syndromic X-Linked Intellectual Disability 23 10
2240 c NNS127 Nonsyndromic Tooth Agenesis 9
2241 c NNS128 Non-Syndromic X-Linked Intellectual Disability 73 9
2242 SYN180 Syndromic X-Linked Intellectual Disability Shrimpton Type 9
2243 c NNS120 Non-Syndromic X-Linked Intellectual Disability 105 6
2244 c NNS121 Non-Syndromic X-Linked Intellectual Disability 100 6
2245 SYN181 Syndromic X-Linked Intellectual Disability Chudley-Schwartz Type 6
2246 SYN094 Syndromic X-Linked Mental Retardation Hough Type 4
2247 NRB018 Neurobehavioral Disorder with Prenatal Alcohol Exposure 3
2248 c MNN047 Mannosidosis, Alpha B, Lysosomal 70
2249 FRS002 Frasier Syndrome 57
2250 P MNN019 Mannosidosis, Beta a, Lysosomal 50
2251 GRD009 Gordon Holmes Syndrome 49
2252 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 41
2253 MCR070 Microcornea, Glaucoma, and Absent Frontal Sinuses 19
2254 P SCH015 Schizophrenia 76
2255 P FRN006 Frontotemporal Dementia 72
2256 PCK003 Pick Disease of Brain 71
2257 ANX010 Anxiety 69
2258 P CNG001 Congenital Myasthenic Syndrome 65
2259 ART002 Arts Syndrome 64
2260 c ART138 Aortic Aneurysm, Familial Abdominal, 1 63
2261 P NPH012 Nephrotic Syndrome 61
2262 PBL005 Piebald Trait 59
2263 P GNR002 Generalized Epilepsy with Febrile Seizures Plus 56
2264 c MYS051 Myasthenic Syndrome, Congenital, 5 56
2265 HLS003 Helsmoortel-Van Der Aa Syndrome 54
2266 P NRC002 Narcolepsy 54
2267 c NRC009 Narcolepsy 1 54
2268 c NPH049 Nephrotic Syndrome, Type 2 53
2269 P MSC022 Mosaic Variegated Aneuploidy Syndrome 52
2270 P TRC102 Trichothiodystrophy 1, Photosensitive 52
2271 P PNC025 Panic Disorder 52
2272 HMC041 Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 51
2273 c INT483 Intellectual Developmental Disorder, Autosomal Dominant 1 50
2274 DSN001 De Sanctis-Cacchione Syndrome 50
2275 c NPH102 Nephrotic Syndrome, Type 14 50
2276 P PRS062 Persistent Hyperplastic Primary Vitreous 50
2277 c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 49
2278 c HYP597 Hyperprolinemia, Type Ii 48
2279 P NRM002 Normal Pressure Hydrocephalus 48
2280 c FML015 Familial Nephrotic Syndrome 47
2281 WHT019 White-Sutton Syndrome 46
2282 CRB169 Cerebellar Atrophy, Developmental Delay, and Seizures 46
2283 NSC005 Nescav Syndrome 45
2284 c SPR041 Spermatogenic Failure 6 45
2285 CNV002 Conversion Disorder 45
2286 c NPH072 Nephrotic Syndrome, Type 7 44
2287 c MYS052 Myasthenic Syndrome, Congenital, 10 43
2288 c CFF009 Coffin-Siris Syndrome 4 43
2289 c SPR043 Spermatogenic Failure 9 42
2290 c NPH054 Nephrotic Syndrome, Type 3 42
2291 c NPH076 Nephrotic Syndrome, Type 10 42
2292 c NRC010 Narcolepsy 2 41
2293 c MYS075 Myasthenic Syndrome, Congenital, 13 41
2294 c MYS074 Myasthenic Syndrome, Congenital, 12 41
2295 c MYS076 Myasthenic Syndrome, Congenital, 8 41
2296 INT417 Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type 41
2297 BSL048 Basilicata-Akhtar Syndrome 41
2298 FML366 Female-Restricted Syndromic X-Linked Intellectual Disability 99 40
2299 P HYP111 Hyperprolinemia 40
2300 c MYS078 Myasthenic Syndrome, Congenital, 14 40
2301 c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 40
2302 VLT001 Vulto-Van Silfhout-De Vries Syndrome 40
2303 P SYN080 Syndromic X-Linked Intellectual Disability 34 40
2304 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 39
2305 c NPH047 Nephrotic Syndrome, Type 4 39
2306 c SPR061 Spermatogenic Failure 5 39
2307 c INT533 Intellectual Developmental Disorder, Autosomal Dominant 13 39
2308 P ADV001 Advanced Sleep Phase Syndrome 39
2309 c BRN140 Brain Small Vessel Disease 2 39
2310 c SPR089 Spermatogenic Failure 4 38
2311 TRN012 Transient Global Amnesia 38
2312 KLN009 Kleine-Levin Hibernation Syndrome 38
2313 CMB091 Combined Oxidative Phosphorylation Deficiency 39 38
2314 c MYS067 Myasthenic Syndrome, Congenital, 22 38
2315 P INT454 Intellectual Developmental Disorder, Autosomal Dominant 55, with Seizures 38
2316 c CFF007 Coffin-Siris Syndrome 2 38
2317 c CFF010 Coffin-Siris Syndrome 3 38
2318 c NPH108 Nephrotic Syndrome, Type 20 37
2319 P SPR062 Spermatogenic Failure 37
2320 c SPR118 Spermatogenic Failure 1 36
2321 c MYS070 Myasthenic Syndrome, Congenital, 19 36
2322 c NPH074 Nephrotic Syndrome, Type 9 36
2323 CMB048 Combined Oxidative Phosphorylation Deficiency 15 35
2324 KLV001 Kluver-Bucy Syndrome 35
2325 SYN177 Syndromic X-Linked Intellectual Disability Najm Type 35
2326 GND017 Gand Syndrome 35
2327 c SPR111 Spermatogenic Failure 16 35
2328 MLS013 Miles-Carpenter Syndrome 34
2329 c MYS064 Myasthenic Syndrome, Congenital, 16 34
2330 c BRN141 Brain Small Vessel Disease 3 34
2331 SYN175 Syndromic X-Linked Intellectual Disability Lubs Type 34
2332 c TRC099 Trichothiodystrophy 2, Photosensitive 34
2333 c SPR082 Spermatogenic Failure 10 34
2334 c SPR088 Spermatogenic Failure 7 33
2335 c SPR042 Spermatogenic Failure 8 33
2336 c MYS077 Myasthenic Syndrome, Congenital, 15 33
2337 c SPR113 Spermatogenic Failure 18 33
2338 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 33
2339 c CFF014 Coffin-Siris Syndrome 9 33
2340 c INT342 Intellectual Developmental Disorder, X-Linked 108 32
2341 SYN092 Syndromic X-Linked Intellectual Disability Cabezas Type 32
2342 SYN178 Syndromic X-Linked Intellectual Disability Claes-Jensen Type 32
2343 c NPH111 Nephrotic Syndrome, Type 21 31
2344 c BRN149 Brain Small Vessel Disease 1 31
2345 MSC021 Mosaic Trisomy 9 31
2346 PRT110 Prieto Syndrome 31
2347 c INT555 Intellectual Developmental Disorder, Autosomal Dominant 46 30
2348 c MYS065 Myasthenic Syndrome, Congenital, 18 30
2349 LNG113 Liang-Wang Syndrome 30
2350 SYN090 Syndromic X-Linked Intellectual Disability Turner Type 30
2351 c SPR084 Spermatogenic Failure 2 30
2352 c INT472 Intellectual Developmental Disorder, Autosomal Recessive 39 29
2353 c INT546 Intellectual Developmental Disorder, Autosomal Dominant 33 29
2354 ARM005 Armfield Syndrome 29
2355 c ATS526 Autosomal Dominant Intellectual Developmental Disorder 19 29
2356 c INT521 Intellectual Developmental Disorder, Autosomal Dominant 2 29
2357 c INT505 Intellectual Developmental Disorder, Autosomal Recessive 2 29
2358 c CFF013 Coffin-Siris Syndrome 8 29
2359 P BRN150 Brain Small Vessel Disease 28
2360 CHR712 Chromosome 20q11-Q12 Deletion Syndrome 28
2361 c PLY181 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 28
2362 c RNG005 Ring Chromosome 10 28
2363 CRB204 Cerebellar, Ocular, Craniofacial, and Genital Syndrome 28
2364 c INT560 Intellectual Developmental Disorder, Autosomal Dominant 52 28
2365 c INT554 Intellectual Developmental Disorder, Autosomal Dominant 45 28
2366 c SPR086 Spermatogenic Failure 3 27
2367 c NPH103 Nephrotic Syndrome, Type 15 27
2368 c SPR095 Spermatogenic Failure 14 27
2369 c MYS056 Myasthenic Syndrome, Congenital, 17 27
2370 c INT475 Intellectual Developmental Disorder, Autosomal Dominant 39 27
2371 c NPH114 Nephrotic Syndrome, Type 22 27
2372 SNJ003 Snijders Blok-Fisher Syndrome 27
2373 CRN042 Carnosinemia 27
2374 c INT535 Intellectual Developmental Disorder, Autosomal Recessive 37 27
2375 JBR046 Jaberi-Elahi Syndrome 27
2376 STN014 Stankiewicz-Isidor Syndrome 26
2377 c ATS523 Autosomal Recessive Intellectual Developmental Disorder 26
2378 c NPH073 Nephrotic Syndrome, Type 8 26
2379 c INT558 Intellectual Developmental Disorder, Autosomal Recessive 61 26
2380 c INT515 Intellectual Developmental Disorder, Autosomal Dominant 4 26
2381 c NPH095 Nephrotic Syndrome, Type 11 26
2382 c NNS087 Non-Syndromic X-Linked Intellectual Disability 93 25
2383 c SPR116 Spermatogenic Failure 15 25
2384 c INT544 Intellectual Developmental Disorder, Autosomal Recessive 46 25
2385 c SPR131 Spermatogenic Failure 28 25
2386 c INT567 Intellectual Developmental Disorder, Autosomal Recessive 65 25
2387 c INT508 Intellectual Developmental Disorder, Autosomal Recessive 7 25
2388 INT402 Intellectual Developmental Disorder, Autosomal Dominant 50, with Behavioral Abnormalities 25
2389 c INT348 Intellectual Developmental Disorder, Autosomal Recessive 71 24
2390 c NPH070 Nephrotic Syndrome, Type 6 24
2391 c SPR128 Spermatogenic Failure 25 24
2392 SYN176 Syndromic X-Linked Intellectual Disability Hedera Type 24
2393 c INT479 Intellectual Developmental Disorder, Autosomal Recessive 58 24
2394 KLQ001 Kilquist Syndrome 24
2395 c NPH106 Nephrotic Syndrome, Type 18 24
2396 MNT196 Mental Retardation, X-Linked 92 24
2397 c SPR127 Spermatogenic Failure 24 24
2398 c RNG015 Ring Chromosome 2 23
2399 c INT335 Intellectual Developmental Disorder, Autosomal Recessive 67 23
2400 c SPR110 Spermatogenic Failure 17 23
2401 c RNG019 Ring Chromosome 3 23
2402 c INT484 Intellectual Developmental Disorder, Autosomal Recessive 1 23
2403 c SPR112 Spermatogenic Failure 21 23
2404 c SPR149 Spermatogenic Failure 39 23
2405 LSS043 Lessel-Kreienkamp Syndrome 23
2406 DVL019 Developmental Delay and Seizures with or Without Movement Abnormalities 23
2407 c SPR081 Spermatogenic Failure 11 22
2408 c SPR125 Spermatogenic Failure 23 22
2409 ANT065 Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis 22
2410 c SPR158 Spermatogenic Failure 46 22
2411 NRD025 Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations 22
2412 PGN002 Paganini-Miozzo Syndrome 22
2413 c SPR115 Spermatogenic Failure 19 22
2414 c NRC017 Narcolepsy 7 22
2415 c SPR141 Spermatogenic Failure 36 22
2416 MTB009 Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression 22
2417 c SPR150 Spermatogenic Failure 40 22
2418 SZR029 Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications 22
2419 c NNS083 Non-Syndromic X-Linked Intellectual Disability 1 22
2420 c SPR153 Spermatogenic Failure 43 22
2421 c SPR114 Spermatogenic Failure 20 21
2422 LCM001 Li-Campeau Syndrome 21
2423 c NNS089 Non-Syndromic X-Linked Intellectual Disability 30 21
2424 c SPR143 Spermatogenic Failure 38 21
2425 c SPR173 Spermatogenic Failure 57 21
2426 c SPR191 Spermatogenic Failure 74 21
2427 c SPR176 Spermatogenic Failure 61 21
2428 c SPR140 Spermatogenic Failure 35 21
2429 c SPR152 Spermatogenic Failure 42 21
2430 c NPH104 Nephrotic Syndrome, Type 16 21
2431 c INT579 Intellectual Developmental Disorder, Autosomal Recessive 77 21
2432 CHR159 Charlie M Syndrome 20
2433 MTC223 Mitochondrial Complex Iv Deficiency, Nuclear Type 16 20
2434 VLN001 Valinemia 20
2435 c SPR137 Spermatogenic Failure 34 20
2436 PCH004 Pachygyria, Frontotemporal 20
2437 c SYN170 Syndromic X-Linked Intellectual Disability 94 20
2438 c SPR172 Spermatogenic Failure 56 20
2439 c SPR134 Spermatogenic Failure 31 20
2440 c SPR160 Spermatogenic Failure 48 20
2441 c SPR136 Spermatogenic Failure 33 20
2442 c SPR157 Spermatogenic Failure 45 20
2443 c SPR181 Spermatogenic Failure 65 20
2444 CNG108 Congenital Mitral Stenosis 20
2445 c SPR087 Spermatogenic Failure 12 20
2446 c TRC128 Trichothiodystrophy 9, Nonphotosensitive 19
2447 c SPR142 Spermatogenic Failure 37 19
2448 c SPR161 Spermatogenic Failure 49 19
2449 c SPR180 Spermatogenic Failure 64 19
2450 c NNS093 Non-Syndromic X-Linked Intellectual Disability 41 19
2451 c NPH119 Nephrotic Syndrome, Type 26 19
2452 c SPR130 Spermatogenic Failure 27 19
2453 c SPR133 Spermatogenic Failure 30 19
2454 c SPR163 Spermatogenic Failure 51 18
2455 c INT461 Intellectual Developmental Disorder, Autosomal Recessive 47 18
2456 c SPR135 Spermatogenic Failure 32 18
2457 c SPR159 Spermatogenic Failure 47 18
2458 c SPR178 Spermatogenic Failure 60 18
2459 c SPR167 Spermatogenic Failure 53 18
2460 c SPR156 Spermatogenic Failure 44 18
2461 c SPR188 Spermatogenic Failure 71 18
2462 HYD049 Hydrocephalus with Cerebellar Agenesis 18
2463 c INT509 Intellectual Developmental Disorder, Autosomal Recessive 9 18
2464 c SPR132 Spermatogenic Failure 29 18
2465 c SPR164 Spermatogenic Failure 52 18
2466 c NRC011 Narcolepsy 3 18
2467 c SPR096 Spermatogenic Failure 13 18
2468 c SPR162 Spermatogenic Failure 50 18
2469 c SPR151 Spermatogenic Failure 41 18
2470 c SPR169 Spermatogenic Failure 54 18
2471 c INT466 Intellectual Developmental Disorder, Autosomal Recessive 54 18
2472 c HYD071 Hydrocephalus, Normal-Pressure, 1 18
2473 c SPR189 Spermatogenic Failure 72 17
2474 c SPR192 Spermatogenic Failure 75 17
2475 c SPR190 Spermatogenic Failure 73 17
2476 11Q001 11q22.2q22.3 Microdeletion Syndrome 17
2477 c SPR175 Spermatogenic Failure 59 17
2478 c SPR177 Spermatogenic Failure 62 17
2479 c SPR129 Spermatogenic Failure 26 17
2480 c CNG621 Congenital Myasthenic Syndrome 7 17
2481 c SPR174 Spermatogenic Failure 58 17
2482 c INT552 Intellectual Developmental Disorder, Autosomal Recessive 59 17
2483 c SPR179 Spermatogenic Failure 63 17
2484 c SPR124 Spermatogenic Failure 22 17
2485 c INT527 Intellectual Developmental Disorder, Autosomal Recessive 30 16
2486 c SPR186 Spermatogenic Failure 69 16
2487 c SPR187 Spermatogenic Failure 70 16
2488 c NNS116 Non-Syndromic X-Linked Intellectual Disability 103 16
2489 c SPR185 Spermatogenic Failure 68 16
2490 c SPR196 Spermatogenic Failure 77 16
2491 c SPR183 Spermatogenic Failure 66 16
2492 c SPR184 Spermatogenic Failure 67 15
2493 c SPR170 Spermatogenic Failure 55 15
2494 c NNS082 Non-Syndromic X-Linked Intellectual Disability 9 15
2495 c ART152 Aortic Aneurysm, Familial Abdominal, 3 15
2496 c INT529 Intellectual Developmental Disorder, Autosomal Recessive 23 15
2497 PCH017 Pachygyria-Intellectual Disability-Epilepsy Syndrome 14
2498 c SPR193 Spermatogenic Failure 76 14
2499 MCR046 Microcephaly Brain Defect Spasticity Hypernatremia 14
2500 c NRC012 Narcolepsy 4 14
2501 c ART151 Aortic Aneurysm, Familial Abdominal, 2 13
2502 c PNC070 Panic Disorder 2 13
2503 c ART108 Aortic Aneurysm, Familial Abdominal, 4 13
2504 c NRC018 Narcolepsy 6 13
2505 c PNC068 Panic Disorder 3 13
2506 c NRC013