Mental Diseases Category (1734 diseases)


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

# Family MCID Name MIFTS
1 P BPL003 Bipolar Disorder 61
2 P FRN006 Frontotemporal Dementia 69
3 P MNT135 Mental Retardation, X-Linked, Syndromic 13 41
4 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 64
5 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 38
6 P HRD084 Hereditary Cerebral Amyloid Angiopathy 29
7 c GRN014 Grn-Related Frontotemporal Dementia 39
8 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 38
9 AMY027 Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 33
10 FRN051 Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related 53
11 P FRN044 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 48
12 c CHM002 Chmp2b-Related Frontotemporal Dementia 21
13 P ALZ034 Alzheimer Disease 87
14 c ALZ049 Alzheimer Disease 2 60
15 c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 60
16 c ALZ056 Alzheimer Disease 3 53
17 c ALZ054 Alzheimer Disease 4 50
18 c ALZ050 Alzheimer Disease 5 47
19 c ALZ063 Alzheimer's Disease 1 40
20 c ALZ012 Alzheimer Disease 12 27
21 c ALZ045 Alzheimer Disease 9 27
22 c ALZ016 Alzheimer Disease 8 26
23 c ALZ015 Alzheimer Disease 6 24
24 c ALZ062 Alzheimer Disease 19 24
25 c ALZ057 Alzheimer Disease 10 22
26 c ALZ053 Alzheimer Disease 7 22
27 c ALZ061 Alzheimer Disease 15 19
28 c ALZ032 Alzheimer Disease 18 18
29 c ALZ059 Alzheimer Disease 13 17
30 c ALZ058 Alzheimer Disease 11 16
31 c ALZ060 Alzheimer Disease 14 15
32 c ALZ031 Alzheimer Disease 17 15
33 c ALZ014 Alzheimer Disease 16 14
34 MHM001 Mehmo Syndrome 35
35 FRN030 Frontotemporal Dementia with Parkinsonism-17 24
36 MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 28
37 P HYP553 Hyperphosphatasia with Mental Retardation Syndrome 3 24
38 SMN008 Semantic Dementia 53
39 BHV002 Behavioral Variant of Frontotemporal Dementia 53
40 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 50
41 MNT056 Mental Retardation, X-Linked, Syndromic, Nascimento Type 26
42 BRJ001 Borjeson-Forssman-Lehmann Syndrome 54
43 RTN207 Retinopathy, Pigmentary, and Mental Retardation 19
44 ALP025 Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 11
45 DSS008 Disease of Mental Health 71
46 DMN002 Dementia 69
47 MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 31
48 KHL003 Kohlschutter-Tonz Syndrome 52
49 SPN350 Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration 19
50 SYN092 Syndromic X-Linked Intellectual Disability Cabezas Type 18
51 MDD011 Mood Disorder 65
52 PRN009 Paranoid Schizophrenia 47
53 MNT310 Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 37
54 P MNT319 Mental Retardation, Autosomal Dominant 20 41
55 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia 32
56 c MNT155 Mental Retardation, Autosomal Recessive 2 29
57 c MNT200 Mental Retardation, X-Linked 97 19
58 P ERL057 Early Infantile Epileptic Encephalopathy 49
59 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 48
60 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 46
61 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 44
62 P ATS366 Autism X-Linked 2 44
63 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 44
64 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 40
65 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 36
66 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 35
67 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 35
68 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 35
69 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 34
70 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 33
71 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 31
72 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 30
73 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 29
74 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 28
75 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 27
76 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 27
77 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 27
78 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 27
79 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 27
80 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 26
81 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 26
82 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 26
83 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 26
84 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 26
85 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 25
86 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 25
87 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 25
88 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 25
89 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 25
90 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 25
91 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 25
92 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 25
93 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 25
94 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 25
95 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 24
96 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 24
97 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 24
98 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 24
99 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 24
100 c EPL232 Epileptic Encephalopathy, Early Infantile, 68 24
101 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 24
102 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 24
103 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 24
104 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 24
105 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 24
106 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 24
107 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 24
108 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 24
109 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 24
110 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 23
111 c EPL234 Epileptic Encephalopathy, Early Infantile, 70 23
112 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 23
113 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 23
114 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 23
115 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 23
116 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 23
117 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 23
118 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 23
119 c EPL233 Epileptic Encephalopathy, Early Infantile, 69 23
120 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 23
121 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 22
122 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 22
123 c EPL235 Epileptic Encephalopathy, Early Infantile, 71 22
124 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 21
125 c EPL238 Epileptic Encephalopathy, Early Infantile, 73 19
126 c EPL239 Epileptic Encephalopathy, Early Infantile, 74 18
127 c EPL237 Epileptic Encephalopathy, Early Infantile, 72 18
128 GRS011 Gerstmann-Straussler Disease 56
129 MNT307 Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 23
130 c AMY107 Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia 21
131 c CRB195 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 20
132 c HRD010 Hereditary Spastic Paraplegia 68
133 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 53
134 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 50
135 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 47
136 ADS004 Aids Dementia Complex 45
137 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 42
138 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 41
139 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 41
140 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 41
141 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 40
142 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 40
143 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40
144 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 40
145 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 40
146 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 40
147 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 39
148 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 39
149 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 38
150 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 38
151 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 38
152 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 37
153 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 37
154 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 36
155 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
156 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 36
157 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 36
158 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 36
159 P SPS012 Spastic Paraplegia 3a 35
160 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 35
161 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 34
162 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 34
163 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 34
164 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 34
165 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 33
166 c SPS039 Spastic Paraplegia 5a 33
167 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 33
168 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 33
169 c SPS036 Spastic Paraplegia 3 33
170 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 32
171 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 32
172 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 31
173 c SPS091 Spastic Paraplegia 4 31
174 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 31
175 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 31
176 c SPS021 Spastic Paraplegia 10 30
177 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 30
178 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 29
179 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 29
180 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
181 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 29
182 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 29
183 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 29
184 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 29
185 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 29
186 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 29
187 c SPS025 Spastic Paraplegia 15 28
188 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 28
189 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 28
190 c HRD186 Hereditary Spastic Paraplegia 51 28
191 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 27
192 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 27
193 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 27
194 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 27
195 c SPS027 Spastic Paraplegia 17 27
196 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 27
197 c MNT236 Mental Retardation, Autosomal Dominant 39 26
198 c SPS013 Spastic Paraplegia 8 25
199 c SPS020 Spastic Paraplegia 1 25
200 c SPS041 Spastic Paraplegia 6 25
201 c SPS023 Spastic Paraplegia 13 24
202 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 23
203 c SPS042 Spastic Paraplegia 9 23
204 c SPS037 Spastic Paraplegia 31 22
205 c SPS028 Spastic Paraplegia 18 22
206 c SPS034 Spastic Paraplegia 26 22
207 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 21
208 STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 21
209 c SPS022 Spastic Paraplegia 12 20
210 DRM023 Dermoodontodysplasia 20
211 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 20
212 c SPS032 Spastic Paraplegia 24 20
213 c HRD210 Hereditary Spastic Paraplegia 23 20
214 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 20
215 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 20
216 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 20
217 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 20
218 c SPS029 Spastic Paraplegia 19 20
219 c SPS033 Spastic Paraplegia 25 19
220 c SPS035 Spastic Paraplegia 29 19
221 c SPS038 Spastic Paraplegia 39 19
222 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 19
223 c SPS080 Spastic Paraplegia 51 19
224 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 19
225 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 18
226 c SPS026 Spastic Paraplegia 16 18
227 c SPS161 Spastic Paraplegia 32 18
228 DMN012 Dementia - Subcortical 18
229 MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 18
230 c HRD188 Hereditary Spastic Paraplegia 72 18
231 c SPS024 Spastic Paraplegia 14 17
232 MNT028 Mental Retardation Smith Fineman Myers Type 16
233 c SPS040 Spastic Paraplegia 5b 15
234 c SPS230 Spastic Paraplegia Type 49 14
235 c SPS165 Spastic Paraplegia 47 13
236 P MJR007 Major Affective Disorder 1 45
237 c ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 35
238 PRT055 Prieto X-Linked Mental Retardation Syndrome 32
239 P NNS031 Non-Syndromic Intellectual Disability 32
240 MNT254 Mental Retardation Syndrome, Mietens-Weber Type 21
241 ARM006 Armfield X-Linked Mental Retardation Syndrome 21
242 XLN134 X-Linked Intellectual Disability, Siderius Type 18
243 PCD002 Pcdh19-Related Female-Limited Epilepsy 16
244 CTR173 Cataract, Ataxia, Short Stature, and Mental Retardation 15
245 SYN083 Syndromic X-Linked Intellectual Disability Shashi Type 10
246 PRS056 Presenile Dementia, Kraepelin Type 10
247 P RTT002 Rett Syndrome 82
248 PSY004 Psychotic Disorder 74
249 P SCH015 Schizophrenia 73
250 P MJR001 Major Depressive Disorder 67
251 c SCH079 Schizophrenia 1 47
252 c ERL020 Early-Onset Schizophrenia 40
253 FRN013 Frontotemporal Dementia, Chromosome 3-Linked 37
254 SCH074 Schuurs-Hoeijmakers Syndrome 36
255 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 33
256 BRK002 Birk-Barel Syndrome 32
257 c SCH082 Schizophrenia 5 30
258 c SCH080 Schizophrenia 3 28
259 c MNT157 Mental Retardation, Autosomal Dominant 18 28
260 c SCH081 Schizophrenia 6 27
261 c MNT273 Mental Retardation, Autosomal Dominant 44 26
262 c RTT008 Rett Syndrome, Congenital Variant 26
263 c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 20
264 c SCH064 Schizophrenia 10 20
265 c SCH045 Schizophrenia 12 16
266 c SCH052 Schizophrenia 14 15
267 c SCH083 Schizophrenia 7 14
268 c SCH084 Schizophrenia 8 14
269 c MJR013 Major Depressive Disorder 1 14
270 c SCH053 Schizophrenia 13 13
271 c SCH061 Schizophrenia 16 13
272 c SCH086 Schizophrenia 11 13
273 c MJR014 Major Depressive Disorder 2 12
274 c MNT185 Mental Retardation, Autosomal Dominant 7 30
275 P SPN202 Spinocerebellar Ataxia, X-Linked 1 30
276 c INC029 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 29
277 c MNT212 Mental Retardation, Autosomal Dominant 26 28
278 c MNT241 Mental Retardation, Autosomal Dominant 32 28
279 c MNT246 Mental Retardation, Autosomal Dominant 38 28
280 c MNT298 Mental Retardation, X-Linked, Syndromic, 35 27
281 c MNT226 Mental Retardation, Autosomal Dominant 31 27
282 c MNT324 Mental Retardation, Autosomal Dominant 49 26
283 c MNT222 Mental Retardation, Autosomal Dominant 29 26
284 c MNT214 Mental Retardation, Autosomal Dominant 24 26
285 c MNT239 Mental Retardation, Autosomal Dominant 35 26
286 c MNT184 Mental Retardation, Autosomal Dominant 11 26
287 c MNT322 Mental Retardation, Autosomal Dominant 27 26
288 c MNT211 Mental Retardation, Autosomal Dominant 23 26
289 P INC031 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 26
290 c MNT150 Mental Retardation, Autosomal Recessive 15 26
291 c MNT219 Mental Retardation, Autosomal Dominant 30 25
292 c MNT238 Mental Retardation, Autosomal Dominant 34 25
293 c MNT321 Mental Retardation, Autosomal Recessive 37 25
294 c MNT186 Mental Retardation, Autosomal Dominant 10 25
295 c MNT272 Mental Retardation, Autosomal Dominant 41 25
296 c MNT245 Mental Retardation, Autosomal Dominant 36 25
297 c MNT179 Mental Retardation, Autosomal Dominant 21 24
298 c MNT154 Mental Retardation, Autosomal Recessive 14 24
299 c AMY104 Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia 24
300 c MNT207 Mental Retardation, X-Linked, Syndromic 32 23
301 c SPN364 Spinocerebellar Ataxia, X-Linked 3 22
302 c MNT151 Mental Retardation, Autosomal Recessive 18 21
303 c MNT240 Mental Retardation, Autosomal Dominant 33 21
304 c SPN363 Spinocerebellar Ataxia, X-Linked 4 19
305 c SPN203 Spinocerebellar Ataxia, X-Linked 5 18
306 MNT057 Mental Retardation, X-Linked, Syndromic, Raymond Type 16
307 c SPN403 Spinocerebellar Ataxia, X-Linked 2 14
308 AMY102 Amyotrophic Lateral Sclerosis, Juvenile, with Dementia 12
309 KFR001 Kufor-Rakeb Syndrome 48
310 P AMY106 Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia 39
311 c MJR008 Major Affective Disorder 2 32
312 MLS013 Miles-Carpenter Syndrome 31
313 HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 29
314 c MJR004 Major Affective Disorder 4 29
315 c MJR003 Major Affective Disorder 6 29
316 c ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 28
317 c MJR006 Major Affective Disorder 5 26
318 c MNT191 Mental Retardation, X-Linked, Syndromic 17 22
319 MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 19
320 FLL034 Fallot Complex with Severe Mental and Growth Retardation 19
321 MNT257 Mental Retardation, X-Linked, with Craniofacial Dysmorphism 16
322 ABD008 Abidi X-Linked Mental Retardation Syndrome 16
323 SCT004 Scott Bryant Graham Syndrome 16
324 ALP067 Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome 15
325 CRN293 Craniosynostosis-Mental Retardation-Clefting Syndrome 14
326 ORG003 Organic Mood Syndrome 12
327 XLN197 X-Linked Intellectual Disability-Plagiocephaly Syndrome 11
328 SYN081 Syndromic X-Linked Intellectual Disability Abidi Type 11
329 c ATS388 Autosomal Dominant Non-Syndromic Intellectual Disability 6 10
330 SYN090 Syndromic X-Linked Intellectual Disability Turner Type 9
331 THM007 Thumb Stiff Brachydactyly Mental Retardation 4
332 c BPL002 Bipolar I Disorder 49
333 OPT054 Opitz-Kaveggia Syndrome 48
334 c MNT158 Mental Retardation, Autosomal Dominant 22 29
335 c FRN040 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 27
336 c FRN043 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 27
337 c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 26
338 c FRN045 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 24
339 DMN026 Dementia Pugilistica 23
340 c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 22
341 PRN010 Paranoid Personality Disorder 20
342 P ALP076 Alopecia-Mental Retardation Syndrome 1 19
343 DPR016 Depression 72
344 SCH012 Schizoaffective Disorder 54
345 DNT005 Dentatorubral-Pallidoluysian Atrophy 53
346 c MJR023 Major Affective Disorder 7 39
347 TMP011 Temple-Baraitser Syndrome 34
348 CHR543 Chromosome 2q37 Deletion Syndrome 34
349 c MNT145 Mental Retardation, Autosomal Recessive 5 30
350 c MNT328 Mental Retardation, Autosomal Dominant 52 28
351 c MNT280 Mental Retardation, Autosomal Dominant 43 28
352 c AMY099 Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia 27
353 c MNT213 Mental Retardation, Autosomal Recessive 40 27
354 c MNT242 Mental Retardation, Autosomal Dominant 40 27
355 c MNT166 Mental Retardation, Autosomal Recessive 39 27
356 c MNT244 Mental Retardation, Autosomal Recessive 49 27
357 c MNT176 Mental Retardation, Autosomal Recessive 38 26
358 c MNT216 Mental Retardation, Autosomal Recessive 41 26
359 c INC015 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 25
360 c MNT177 Mental Retardation, Autosomal Recessive 27 25
361 c MNT332 Mental Retardation, Autosomal Dominant 56 25
362 OHD003 Ohdo Syndrome, X-Linked 25
363 c MNT227 Mental Retardation, Autosomal Recessive 46 25
364 c MNT221 Mental Retardation, Autosomal Recessive 44 24
365 c MNT327 Mental Retardation, Autosomal Dominant 51 24
366 c MNT323 Mental Retardation, Autosomal Dominant 48 24
367 c MNT329 Mental Retardation, Autosomal Dominant 53 24
368 c MNT330 Mental Retardation, Autosomal Dominant 54 23
369 c MNT286 Mental Retardation, Autosomal Dominant 45 23
370 c MNT326 Mental Retardation, Autosomal Dominant 50 23
371 c MNT234 Mental Retardation, Autosomal Recessive 48 23
372 c MNT215 Mental Retardation, Autosomal Recessive 43 22
373 c MNT220 Mental Retardation, Autosomal Recessive 45 22
374 c MNT225 Mental Retardation, Autosomal Recessive 47 22
375 c MNT279 Mental Retardation, Autosomal Dominant 47 22
376 c AMY105 Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia 22
377 AMM001 Amme Complex 22
378 c MNT278 Mental Retardation, Autosomal Dominant 46 21
379 c MNT264 Mental Retardation, Autosomal Recessive 52 21
380 c MNT243 Mental Retardation, Autosomal Recessive 50 20
381 P HYP830 Hypomagnesemia, Seizures, and Mental Retardation 1 20
382 c MNT195 Mental Retardation, X-Linked 96 16
383 MNT107 Mental Retardation, Fra12a Type 15
384 ALD006 Aldred Syndrome 6
385 P PRS038 Personality Disorder 67
386 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 46
387 c CRB193 Cerebral Amyloid Angiopathy, App-Related 45
388 c MLT010 Multiple Personality Disorder 44
389 c AMY090 Amyotrophic Lateral Sclerosis 8 44
390 CHL012 Childhood Disintegrative Disease 43
391 CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 42
392 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 40
393 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 40
394 OHD004 Ohdo Syndrome 39
395 c MJR024 Major Affective Disorder 9 36
396 c MJR022 Major Affective Disorder 8 36
397 c AMY088 Amyotrophic Lateral Sclerosis 3 36
398 c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 35
399 c AMY085 Amyotrophic Lateral Sclerosis 9 35
400 c AMY067 Amyotrophic Lateral Sclerosis 18 32
401 c AMY083 Amyotrophic Lateral Sclerosis 11 31
402 c AMY059 Amyotrophic Lateral Sclerosis 19 31
403 CKS001 Ck Syndrome 31
404 c AMY089 Amyotrophic Lateral Sclerosis 7 31
405 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 29
406 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 28
407 c AMY055 Amyotrophic Lateral Sclerosis 17 27
408 c AMY022 Amyotrophic Lateral Sclerosis Type 5 26
409 c AMY074 Amyotrophic Lateral Sclerosis Type 14 26
410 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 25
411 HYD054 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 24
412 P GLY103 Glycosylphosphatidylinositol Biosynthesis Defect 15 24
413 c AMY063 Amyotrophic Lateral Sclerosis 20 22
414 c GLY108 Glycosylphosphatidylinositol Biosynthesis Defect 18 21
415 c AMY110 Amyotrophic Lateral Sclerosis 24 21
416 RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 21
417 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 21
418 c GLY107 Glycosylphosphatidylinositol Biosynthesis Defect 17 21
419 HLL013 Hall-Riggs Mental Retardation Syndrome 20
420 BLP010 Blepharophimosis Intellectual Disability Syndromes 20
421 c AMY112 Amyotrophic Lateral Sclerosis 25 19
422 BLP044 Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 19
423 c GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 19
424 c AMY062 Amyotrophic Lateral Sclerosis 12 19
425 c AMY108 Amyotrophic Lateral Sclerosis 23 19
426 GMS002 Gms Syndrome 18
427 LMB066 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 17
428 WLF012 Wolff Mental Retardation Syndrome 16
429 ERL033 Early-Onset Parkinsonism-Intellectual Disability Syndrome 16
430 PTR031 Pterygium Colli and Mental Retardation with Facial and Digital Anomalies 16
431 ULN022 Ulnar Hypoplasia with Mental Retardation 15
432 P MNT312 Mental Health Wellness 1 15
433 RDL026 Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome 15
434 SPN347 Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 14
435 SCH022 Schimke X-Linked Mental Retardation Syndrome 14
436 SPS218 Spastic Diplegia and Mental Retardation 14
437 c MJR021 Major Affective Disorder 3 13
438 MNT039 Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 12
439 INT288 Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome 11
440 MNT311 Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration 11
441 ULN019 Ulna Hypoplasia-Intellectual Disability Syndrome 10
442 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 10
443 KCN019 Kcnk9 Imprinting Syndrome 10
444 c ATS389 Autosomal Dominant Non-Syndromic Intellectual Disability 8 9
445 SYN093 Syndromic X-Linked Intellectual Disability Raymond Type 9
446 TRN026 Tranebjaerg Svejgaard Syndrome 8
447 c TRD001 Tardbp-Related Amyotrophic Lateral Sclerosis 7
448 c MNT313 Mental Health Wellness 2 7
449 CTS013 Cutis Verticis Gyrata Mental Deficiency 6
450 AKS001 Akesson Syndrome 6
451 PTR009 Pterygium Colli Mental Retardation Digital Anomalies 5
452 CRN100 Craniosynostosis Mental Retardation Heart Defects 3
453 CNG099 Congenital Heart Disease Radio Ulnar Synostosis Mental Retardation 3
454 PRT057 Proteus Like Syndrome Mental Retardation Eye Defect 3
455 EPL007 Epilepsy Mental Deterioration Finnish Type 2
456 CRN064 Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation 2
457 SZR004 Seizures Mental Retardation Hair Dysplasia 2
458 NCL006 Nicolaides-Baraitser Syndrome 44
459 PSD088 Pseudobulbar Affect 39
460 PRK087 Parkinson-Dementia Syndrome 34
461 TMT002 Temtamy Preaxial Brachydactyly Syndrome 30
462 SBC025 Subcortical Arteriosclerotic Encephalopathy 24
463 FGS004 Fg Syndrome 4 19
464 MNT306 Mental Retardation, X-Linked, Syndromic, Houge Type 16
465 SBN004 Sabinas Brittle Hair Syndrome 15
466 P PRK057 Parkinson Disease, Late-Onset 76
467 CLF027 Cleft Palate, Isolated 64
468 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 56
469 SMT006 Somatoform Disorder 55
470 BRN045 Brunner Syndrome 50
471 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 48
472 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 48
473 MRT007 Martsolf Syndrome 41
474 c ERL056 Early-Onset Parkinson's Disease 41
475 c PRK025 Parkinson Disease 10 39
476 c PRK090 Parkinson Disease 3, Autosomal Dominant 38
477 c HRD173 Hereditary Late-Onset Parkinson Disease 33
478 c PRK093 Parkinson Disease 8, Autosomal Dominant 33
479 c PRK071 Parkinson Disease 14, Autosomal Recessive 31
480 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 31
481 c PRK065 Parkinson Disease 20, Early-Onset 27
482 c MNT287 Mental Retardation, Autosomal Recessive 57 26
483 RCH010 Richieri-Costa/guion-Almeida Syndrome 26
484 c PRK091 Parkinson Disease 4, Autosomal Dominant 26
485 c MNT282 Mental Retardation, Autosomal Recessive 55 25
486 c PRK099 Parkinson Disease 18, Autosomal Dominant 25
487 ART103 Arthrogryposis, Mental Retardation, and Seizures 25
488 c MNT337 Mental Retardation, Autosomal Dominant 58 24
489 c PRK052 Parkinson Disease 17 24
490 SFR001 Sifrim-Hitz-Weiss Syndrome 24
491 c MNT285 Mental Retardation, Autosomal Recessive 58 24
492 CLF050 Cleft Palate, Cardiac Defects, and Mental Retardation 23
493 c PRK070 Parkinson Disease 21 23
494 JWD001 Jawad Syndrome 23
495 c JVN058 Juvenile-Onset Parkinson's Disease 23
496 c MNT338 Mental Retardation, Autosomal Recessive 65 23
497 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 23
498 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 22
499 c MNT336 Mental Retardation, Autosomal Recessive 64 22
500 CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 22
501 c MNT263 Mental Retardation, Autosomal Recessive 51 21
502 MNT118 Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 21
503 c MNT197 Mental Retardation, X-Linked, Syndromic 9 21
504 c MNT335 Mental Retardation, Autosomal Recessive 63 21
505 c PRK094 Parkinson Disease 11, Autosomal Dominant 21
506 c PRK083 Parkinson Disease 22, Autosomal Dominant 20
507 c MNT277 Mental Retardation, Autosomal Recessive 54 20
508 c MNT281 Mental Retardation, Autosomal Recessive 59 20
509 c MNT284 Mental Retardation, Autosomal Recessive 56 20
510 c PRK096 Parkinson Disease 13, Autosomal Dominant 19
511 c PRK098 Parkinson Disease 5, Autosomal Dominant 19
512 c PRK022 Parkinson Disease 12 19
513 c PRK058 Parkinson Disease 16 18
514 c LRR001 Lrrk2-Related Parkinson Disease 18
515 CRB158 Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 18
516 c INT336 Intellectual Developmental Disorder, Autosomal Recessive 68 18
517 MNT331 Mental Retardation, Autosomal Dominant 55, with Seizures 16
518 c HYP834 Hypomagnesemia, Seizures, and Mental Retardation 2 16
519 P INT335 Intellectual Developmental Disorder, Autosomal Recessive 67 13
520 MLP003 Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type 11
521 PLT011 Pilotto Syndrome 9
522 MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 7
523 c VPS003 Vps35-Related Parkinson Disease 6
524 c BPL001 Bipolar Ll Disorder 5
525 XLN132 X-Linked Intellectual Disability, Schimke Type 5
526 DWN001 Down Syndrome 71
527 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 69
528 MNT002 Mental Depression 65
529 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 63
530 c TYR012 Tyrosinemia, Type I 55
531 c MCR256 Microphthalmia, Syndromic 9 52
532 c BRD012 Bardet-Biedl Syndrome 11 51
533 c BRD044 Bardet-Biedl Syndrome 17 48
534 c BRD013 Bardet-Biedl Syndrome 12 48
535 P OLV001 Olivopontocerebellar Atrophy 48
536 P TYR004 Tyrosinemia 48
537 c TYR013 Tyrosinemia, Type Ii 46
538 DBW001 Dubowitz Syndrome 46
539 c BRD020 Bardet-Biedl Syndrome 8 45
540 c BRD033 Bardet-Biedl Syndrome 13 45
541 OLV002 Oliver Syndrome 45
542 c BRD011 Bardet-Biedl Syndrome 10 44
543 WDM004 Wiedemann-Steiner Syndrome 44
544 c TYR011 Tyrosinemia, Type Iii 43
545 c BRD015 Bardet-Biedl Syndrome 3 43
546 c BRD048 Bardet-Biedl Syndrome 18 42
547 P MCR241 Microphthalmia, Syndromic 3 42
548 c BRD035 Bardet-Biedl Syndrome 15 42
549 P MRN003 Marinesco-Sjogren Syndrome 41
550 DLS001 Delusional Disorder 41
551 c MCR263 Microphthalmia, Syndromic 1 40
552 c MCR261 Microphthalmia, Syndromic 2 40
553 c BRD017 Bardet-Biedl Syndrome 5 39
554 c SCH085 Schizophrenia 2 38
555 c BRD045 Bardet-Biedl Syndrome 19 36
556 c BRD047 Bardet-Biedl Syndrome 16 35
557 c AMY023 Amyotrophic Lateral Sclerosis Type 6 35
558 c ATS384 Autosomal Dominant Non-Syndromic Intellectual Disability 2 35
559 CHR662 Chromosome 15q13.3 Deletion Syndrome 34
560 CLB026 Colobomatous Microphthalmia 34
561 c MCR251 Microphthalmia, Syndromic 6 33
562 SPS226 Spastic Paraplegia, Ataxia, and Mental Retardation 33
563 c ATS385 Autosomal Dominant Non-Syndromic Intellectual Disability 3 32
564 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 31
565 MGL033 Megalocornea-Mental Retardation Syndrome 30
566 DRG004 Drug-Induced Mental Disorder 30
567 c MCR252 Microphthalmia, Syndromic 5 28
568 PLL004 Pallister W Syndrome 28
569 c MCR245 Microphthalmia, Syndromic 8 27
570 c BRD050 Bardet-Biedl Syndrome 21 27
571 RMN002 Ramon Syndrome 27
572 c MCR312 Microphthalmia, Syndromic 10 26
573 ALP085 Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 26
574 c MCR212 Microphthalmia, Syndromic 12 26
575 CHR506 Choroideremia, Deafness, and Mental Retardation 26
576 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 26
577 c ATS383 Autosomal Dominant Non-Syndromic Intellectual Disability 1 25
578 P SYN064 Syndromic X-Linked Intellectual Disability 25
579 NNS032 Non-Syndromic X-Linked Intellectual Disability 25
580 c BRD051 Bardet-Biedl Syndrome 20 24
581 c MCR228 Microphthalmia, Syndromic 13 24
582 SPN368 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 24
583 c CRB170 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 23
584 c PRK008 Parkinson Disease Type 9 23
585 c MNT181 Mental Retardation, Autosomal Recessive 35 23
586 LWR016 Lowry-Maclean Syndrome 23
587 ALC013 Alcohol-Induced Mental Disorder 23
588 MNT256 Mental Retardation, Buenos Aires Type 23
589 CLR029 Clark-Baraitser Syndrome 22
590 MGL027 Megalocornea-Intellectual Disability Syndrome 22
591 c MCR217 Microphthalmia, Syndromic 11 22
592 MCD002 Mcdonough Syndrome 22
593 c MNT162 Mental Retardation, Autosomal Recessive 24 22
594 c MCR262 Microphthalmia, Syndromic 4 21
595 P ALP068 Alopecia-Intellectual Disability Syndrome 21
596 c SCH051 Schizophrenia 4 21
597 MTP004 Metaphyseal Acroscyphodysplasia 21
598 c SCH075 Schizophrenia 19 21
599 c MNT172 Mental Retardation, Autosomal Recessive 25 21
600 c MNT165 Mental Retardation, Autosomal Recessive 28 21
601 c SCH073 Schizophrenia 9 21
602 HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 21
603 c MNT163 Mental Retardation, Autosomal Recessive 30 20
604 c MNT182 Mental Retardation, Autosomal Recessive 19 20
605 c MNT170 Mental Retardation, Autosomal Recessive 23 20
606 c MNT167 Mental Retardation, Autosomal Recessive 16 20
607 MCR052 Microcephaly Microcornea Syndrome Seemanova Type 20
608 c SYN078 Syndromic X-Linked Intellectual Disability Type 10 20
609 c MNT180 Mental Retardation, Autosomal Recessive 33 20
610 BRC121 Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation 20
611 OCL043 Oculorenocerebellar Syndrome 19
612 c MNT161 Mental Retardation, Autosomal Recessive 29 19
613 MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 19
614 EPL162 Epilepsy-Telangiectasia 18
615 c BMN004 Biemond Syndrome Ii 18
616 KZL006 Kozlowski-Krajewska Syndrome 18
617 ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 18
618 KNN010 Kennerknecht Syndrome 18
619 CHR397 Chromosome Xp11.3 Deletion Syndrome 18
620 c MNT160 Mental Retardation, Autosomal Recessive 31 18
621 PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 18
622 HYP688 Hypospadias-Mental Retardation Syndrome 18
623 c SYN082 Syndromic X-Linked Intellectual Disability 14 18
624 MRF017 Marfanoid Mental Retardation Syndrome, Autosomal 18
625 RSS027 Russell-Silver Syndrome, X-Linked 17
626 DXT003 Dextrocardia with Unusual Facies and Microphthalmia 17
627 c SCH056 Schizophrenia 15 17
628 c MNT247 Mental Retardation, X-Linked 73 17
629 MNT030 Mental Retardation Syndrome, Belgian Type 17
630 LJN002 Lujan Syndrome 17
631 OPH013 Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency 17
632 ARL006 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 17
633 c ATS387 Autosomal Dominant Non-Syndromic Intellectual Disability 5 17
634 SPN344 Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 17
635 SPS047 Spastic Paraplegia with Precocious Puberty 17
636 MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 16
637 c MNT204 Mental Retardation, X-Linked 23 16
638 BRC089 Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome 16
639 MNT255 Mental Retardation and Psoriasis 16
640 ART029 Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 16
641 c ATS386 Autosomal Dominant Non-Syndromic Intellectual Disability 4 16
642 c SCH087 Schizophrenia 18 16
643 DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 16
644 CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 16
645 c MNT194 Mental Retardation, X-Linked 50 16
646 MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 16
647 c SYN056 Syndromic X-Linked Intellectual Disability 7 16
648 CHM001 Cahmr Syndrome 15
649 CHR580 Choroid Plexus Calcification and Mental Retardation 15
650 c MNT202 Mental Retardation, X-Linked 53 15
651 HRD035 Hair Defect with Photosensitivity and Mental Retardation 15
652 ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 15
653 SPS195 Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 15
654 GRW038 Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 15
655 CHR669 Chromosome 2p16.3 Deletion Syndrome 15
656 c ALP075 Alopecia-Mental Retardation Syndrome 2 14
657 ECT104 Ectodermal Dysplasia with Mental Retardation and Syndactyly 14
658 5Q1001 5q14.3 Microdeletion Syndrome 14
659 c AMY079 Amyotrophic Lateral Sclerosis Type 15 14
660 SYN079 Syndromic X-Linked Intellectual Disability Siderius Type 14
661 EHL082 Ehlers-Danlos Syndrome, Beasley-Cohen Type 14
662 SPS194 Spastic Paresis, Glaucoma, and Mental Retardation 14
663 CRN103 Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 14
664 P BMN001 Biemond Syndrome 14
665 OHD002 Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant 14
666 MTR081 Motor Neuron Disease with Dementia and Ophthalmoplegia 14
667 INT343 Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects 14
668 HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 14
669 FTZ003 Fitzsimmons Syndrome 14
670 SPS193 Spastic Paraplegia, Epilepsy, and Mental Retardation 14
671 CTS046 Cutis Verticis Gyrata and Mental Retardation 13
672 c ATS390 Autosomal Dominant Non-Syndromic Intellectual Disability 9 13
673 UVL008 Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability 13
674 DVR003 Devriendt Syndrome 13
675 c OLV005 Olivopontocerebellar Atrophy V 13
676 MNT315 Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 13
677 c INT345 Intellectual Developmental Disorder, Autosomal Recessive 70 13
678 DWR021 Dwarfism, Mental Retardation, and Eye Abnormality 13
679 c ALP063 Alopecia-Mental Retardation Syndrome 3 13
680 INT342 Intellectual Developmental Disorder, X-Linked 108 13
681 c MNT205 Mental Retardation, X-Linked 42 13
682 STR102 Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Features 12
683 c OLV006 Olivopontocerebellar Atrophy Ii, Autosomal Recessive 12
684 MND028 Mandibulofacial Dysostosis with Mental Retardation 12
685 MNT316 Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 12
686 PRK068 Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments 12
687 SHR089 Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome 12
688 HYP816 Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes 12
689 SPN396 Spinal Muscular Atrophy with Mental Retardation 12
690 CRM012 Cree Mental Retardation Syndrome 12
691 PLN009 Palant Cleft Palate Syndrome 12
692 CMR005 Camera-Marugo-Cohen Syndrome 12
693 XLN128 X-Linked Intellectual Disability, Abidi Type 12
694 INT286 Intellectual Disability-Spasticity-Ectrodactyly Syndrome 12
695 c INT344 Intellectual Developmental Disorder, Autosomal Recessive 69 11
696 c ATS394 Autosomal Dominant Mental Retardation 55 11
697 c C9R002 C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia 11
698 FCL076 Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 11
699 c AMY109 Amyotrophic Lateral Sclerosis Type 22 11
700 CTR179 Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy 11
701 PRN067 Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 10
702 ART149 Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies 10
703 ART055 Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies 10
704 AMY015 Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 10
705 MNT250 Mental Retardation with Spastic Paraplegia 10
706 SPS217 Spastic Paraplegia, Optic Atrophy, and Dementia 10
707 c FCS008 Fucosidosis Type 1 10
708 VTL010 Vitiligo, Progressive, with Mental Retardation and Urethral Duplication 10
709 HRD179 Hair Defect-Photosensitivity-Intellectual Disability Syndrome 10
710 HYP783 Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 9
711 TNK001 Tonoki Syndrome 9
712 c ALP081 Alopecia Intellectual Disability Syndrome 2 9
713 CTS047 Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation 9
714 ATX043 Ataxia with Myoclonic Epilepsy and Presenile Dementia 9
715 SPN397 Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 9
716 MNT299 Mental and Growth Retardation with Amblyopia 9
717 DMN041 Dementia/parkinsonism with Non-Alzheimer Amyloid Plaques 9
718 CHD003 Chudley Rozdilsky Syndrome 9
719 OHD001 Ohdo Syndrome, Maat-Kievit-Brunner Type 8
720 SYN091 Syndromic X-Linked Intellectual Disability Nascimento Type 8
721 IND013 Indolylacroyl Glycinuria with Mental Retardation 8
722 SCR041 Sucrosuria, Hiatus Hernia and Mental Retardation 8
723 EPL197 Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation 8
724 PFF002 Pfeiffer Kapferer Syndrome 8
725 c MRN006 Marinesco-Sjogren-Like Syndrome 8
726 c ATS417 Autosomal Dominant Non-Syndromic Intellectual Disability 19 8
727 PSD115 Pseudouridinuria and Mental Defect 8
728 c SYN077 Syndromic X-Linked Intellectual Disability 12 8
729 DSL004 Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 8
730 KNR001 Koone Rizzo Elias Syndrome 7
731 WLK002 Walker Dyson Syndrome 7
732 SNG001 Singh Chhaparwal Dhanda Syndrome 7
733 MCR344 Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 7
734 SPS183 Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome 6
735 CNT052 Cantalamessa Baldini Ambrosi Syndrome 6
736 ZRR001 Zerres Rietschel Majewski Syndrome 6
737 ZZM001 Zazam Sheriff Phillips Syndrome 6
738 MCR072 Microdontia Hypodontia Short Stature 6
739 PSS002 Piussan Lenaerts Mathieu Syndrome 6
740 SMM001 Sammartino Decreccio Syndrome 6
741 KRN006 Karandikar Maria Kamble Syndrome 6
742 INT089 Intellectual Deficit - Short Stature - Hypertelorism 6
743 HRD065 Hordnes Engebretsen Knudtson Syndrome 6
744 FNG007 Feingold Trainer Syndrome 6
745 EMP013 Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation 6
746 KSZ002 Kosztolanyi Syndrome 6
747 CRT027 Cartwright Nelson Fryns Syndrome 6
748 PFF003 Pfeiffer Mayer Syndrome 6
749 CNT053 Cantu Sanchez-Corona Fragoso Syndrome 6
750 BDH001 Boudhina Yedes Khiari Syndrome 5
751 ANM047 Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/mental Retardation Syndrome 5
752 SHR110 Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 5
753 MCR342 Microcephaly, Macrotia, and Mental Retardation 5
754 FBR095 Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation 5
755 KZL003 Kozlowski Ouvrier Syndrome 5
756 AMY096 Amyloidosis of Gingiva and Conjunctiva with Intellectual Disability 5
757 DKR001 Duker Weiss Siber Syndrome 4
758 KTS001 Katsantoni Papadakou Lagoyanni Syndrome 4
759 SYN094 Syndromic X-Linked Mental Retardation Hough Type 3
760 c BMN003 Biemond Syndrome Type 1 3
761 CNT055 Cantu Sanchez-Corona Hernandez Syndrome 3
762 GRX001 Grix Blankenship Peterson Syndrome 3
763 P ORT004 Orthostatic Intolerance 69
764 P ALC004 Alcohol Abuse 68
765 c ATS007 Autism Spectrum Disorder 67
766 P ATS364 Autism 67
767 DMN031 Dementia, Lewy Body 67
768 P KBK002 Kabuki Syndrome 1 66
769 TBC004 Tobacco Addiction 64
770 P SBS003 Substance Abuse 60
771 P PNS012 Paine Syndrome 60
772 END040 Endogenous Depression 59
773 c PRX045 Peroxisome Biogenesis Disorder 1b 58
774 VSC002 Vascular Dementia 57
775 P TCD001 Tic Disorder 57
776 IMP005 Impotence 56
777 PRV006 Pervasive Developmental Disorder 56
778 PST021 Postpartum Depression 56
779 ART002 Arts Syndrome 55
780 OPT003 Opiate Dependence 55
781 PNG002 Pain Agnosia 54
782 GNR004 Generalized Anxiety Disorder 54
783 P SCK004 Seckel Syndrome 54
784 P CNG010 Congenital Stationary Night Blindness 53
785 AMN003 Amnestic Disorder 53
786 CND002 Conduct Disorder 53
787 SXL003 Sexual Disorder 53
788 RNP003 Renpenning Syndrome 1 53
789 PTH002 Pathological Gambling 52
790 SPC010 Speech and Communication Disorders 51
791 P ASP001 Asperger Syndrome 51
792 CCN002 Cocaine Abuse 51
793 DRG003 Drug Dependence 51
794 c PRX059 Peroxisome Biogenesis Disorder 1a 50
795 CCN001 Cocaine Dependence 50
796 SPC005 Speech Disorder 50
797 BRD004 Borderline Personality Disorder 50
798 c CNT015 Central Sleep Apnea 50
799 c HNT010 Huntington Disease-Like 1 50
800 ANT011 Antisocial Personality Disorder 50
801 WTH001 Withdrawal Disorder 50
802 SBS004 Substance Dependence 49
803 SCL003 Social Phobia 49
804 c NRC009 Narcolepsy 1 49
805 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 49
806 c CHR056 Chronic Tic Disorder 49
807 P RHZ001 Rhizomelic Chondrodysplasia Punctata 48
808 OPP004 Oppositional Defiant Disorder 48
809 c SCK009 Seckel Syndrome 1 47
810 c HNT004 Huntington Disease-Like 2 47
811 c SPL067 Split-Hand/foot Malformation 1 47
812 c BRD032 Bardet-Biedl Syndrome 14 47
813 PRM003 Premature Ejaculation 46
814 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
815 GND002 Gender Identity Disorder 46
816 AGR002 Agoraphobia 45
817 DLY008 Delayed Sleep Phase Disorder 45
818 BDY001 Body Dysmorphic Disorder 45
819 RMS001 Rem Sleep Behavior Disorder 44
820 CNN001 Cannabis Dependence 44
821 c AMY069 Amyotrophic Lateral Sclerosis 21 44
822 c BRD018 Bardet-Biedl Syndrome 6 44
823 HYP030 Hypoactive Sexual Desire Disorder 44
824 SCH003 Schizophreniform Disorder 44
825 OPD001 Opioid Abuse 43
826 ALX002 Alexithymia 43
827 DYS009 Dysthymic Disorder 43
828 c NGH026 Night Blindness, Congenital Stationary, Type 1a 43
829 P PNT019 Pontocerebellar Hypoplasia 43
830 ECH002 Echolalia 43
831 PHB001 Phobic Disorder 43
832 P PLL002 Pellagra 43
833 IMP006 Impulse Control Disorder 43
834 TRN007 Transsexualism 43
835 CNN002 Cannabis Abuse 42
836 P DYS005 Dyslexia 42
837 c RCR002 Recurrent Hypersomnia 42
838 c SPL034 Split-Hand/foot Malformation 4 42
839 c PNT049 Pontocerebellar Hypoplasia, Type 2d 42
840 MTS001 Mutism 42
841 MRP001 Morphine Dependence 42
842 STR015 Stereotypic Movement Disorder 42
843 HRN003 Heroin Dependence 42
844 ALX001 Alexia 42
845 P KLF001 Kleefstra Syndrome 42
846 RMN001 Rumination Disorder 41
847 c PNT036 Pontocerebellar Hypoplasia, Type 6 41
848 INT025 Intermittent Explosive Disorder 41
849 c SCK015 Seckel Syndrome 2 41
850 c PNT010 Pontocerebellar Hypoplasia Type 1 40
851 SMT001 Somatization Disorder 40
852 PTC002 Potocki-Lupski Syndrome 40
853 PHB003 Phobia, Specific 40
854 KLP001 Kleptomania 40
855 RDN001 Reading Disorder 40
856 P SPL061 Split Hand-Foot Malformation 40
857 c PNT037 Pontocerebellar Hypoplasia, Type 3 40
858 ATY001 Atypical Depressive Disorder 40
859 c HNT011 Huntington Disease-Like 3 40
860 MLN003 Melancholia 39
861 c PNT018 Pontocerebellar Hypoplasia, Type 1b 39
862 RTR001 Retrograde Amnesia 39
863 AMP007 Amphetamine Abuse 39
864 AGR018 Agraphia 39
865 NNT008 Neonatal Abstinence Syndrome 39
866 c SPL024 Split-Hand/foot Malformation 3 38
867 AVD001 Avoidant Personality Disorder 38
868 DSS010 Dissociative Disorder 38
869 SYN089 Syndromic X-Linked Intellectual Disability Snyder Type 38
870 ACT084 Acute Stress Disorder 38
871 DVL001 Developmental Coordination Disorder 38
872 c WRB005 Warburg Micro Syndrome 4 38
873 PRD002 Periodic Limb Movement Disorder 37
874 c SPL070 Split-Hand/foot Malformation 2 37
875 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 37
876 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 37
877 MNT058 Mental Retardation, X-Linked, Syndromic, Turner Type 37
878 c SPL033 Split-Hand/foot Malformation 6 37
879 P CRB154 Cerebrocostomandibular Syndrome 37
880 ANS006 Anosognosia 36
881 P SPC019 Specific Language Impairment 36
882 TRN012 Transient Global Amnesia 36
883 ADJ001 Adjustment Disorder 36
884 DRG001 Drug Psychosis 36
885 c NRC010 Narcolepsy 2 36
886 c WRB003 Warburg Micro Syndrome 2 36
887 SPR012 Separation Anxiety Disorder 36
888 IDM001 Ideomotor Apraxia 36
889 PCD001 Pica Disease 35
890 c PNT045 Pontocerebellar Hypoplasia, Type 1a 35
891 SCH011 Schizotypal Personality Disorder 34
892 PHN001 Phencyclidine Abuse 34
893 SBC016 Subacute Delirium 34
894 c SPL025 Split-Hand/foot Malformation 5 34
895 ART014 Articulation Disorder 34
896 PSY003 Psychosexual Disorder 34
897 FCT008 Factitious Disorder 33
898 c PNT043 Pontocerebellar Hypoplasia, Type 4 33
899 NMN001 Nominal Aphasia 33
900 c BRD019 Bardet-Biedl Syndrome 7 33
901 PDP001 Pedophilia 33
902 c KLF004 Kleefstra Syndrome 1 33
903 c PNT044 Pontocerebellar Hypoplasia, Type 2a 33
904 c PRX055 Peroxisome Biogenesis Disorder 11a 33
905 P WRB001 Warburg Micro Syndrome 32
906 ANT019 Anterograde Amnesia 32
907 MNC002 Munchausen by Proxy 32
908 OBS003 Obsessive-Compulsive Personality Disorder 32
909 PRP015 Paraphilia Disorder 32
910 c RBN008 Rubinstein-Taybi Syndrome 2 32
911 DSS025 Dissociative Seizures 32
912 c PRX060 Peroxisome Biogenesis Disorder 5a 32
913 c NGH007 Night Blindness, Congenital Stationary, Type 1b 32
914 NSP004 Nosophobia 31
915 SPC003 Specific Developmental Disorder 31
916 SBS005 Substance-Induced Psychosis 31
917 c SCK010 Seckel Syndrome 4 31
918 c NGH025 Night Blindness, Congenital Stationary, Type 2a 31
919 c PRX056 Peroxisome Biogenesis Disorder 11b 30
920 c SCK011 Seckel Syndrome 5 30
921 c PNT046 Pontocerebellar Hypoplasia, Type 5 30
922 c PNT032 Pontocerebellar Hypoplasia, Type 9 30
923 SYN057 Syndromic Intellectual Disability 30
924 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 30
925 c ATS168 Autosomal Dominant Congenital Stationary Night Blindness 30
926 EXH001 Exhibitionism 30
927 c PNT033 Pontocerebellar Hypoplasia, Type 10 30
928 c PNT035 Pontocerebellar Hypoplasia, Type 1c 30
929 DYS004 Dyscalculia 30
930 DSS002 Dissociative Amnesia 30
931 GTP001 Gait Apraxia 30
932 c PRX063 Peroxisome Biogenesis Disorder 2a 29
933 CYC005 Cyclothymic Disorder 29
934 DPN001 Dependent Personality Disorder 29
935 c PRX050 Peroxisome Biogenesis Disorder 9b 29
936 c PRX048 Peroxisome Biogenesis Disorder 10a 29
937 c PRX051 Peroxisome Biogenesis Disorder 6a 29
938 c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 28
939 ATY003 Atypical Autism 28
940 AMS001 Amusia 28
941 c PRX053 Peroxisome Biogenesis Disorder 14b 28
942 c PRX054 Peroxisome Biogenesis Disorder 12a 28
943 SCH004 Schizoid Personality Disorder 28
944 c PNT039 Pontocerebellar Hypoplasia, Type 7 28
945 c BRD021 Bardet-Biedl Syndrome 9 28
946 c KBK003 Kabuki Syndrome 2 27
947 NRC003 Narcissistic Personality Disorder 27
948 ALC003 Alcoholic Psychosis 27
949 c PNT047 Pontocerebellar Hypoplasia, Type 2b 27
950 c PRX065 Peroxisome Biogenesis Disorder 3a 27
951 c PRX043 Peroxisome Biogenesis Disorder 6b 26
952 c PNT050 Pontocerebellar Hypoplasia, Type 11 26
953 c JVN015 Juvenile Huntington Disease 26
954 c NGH010 Night Blindness, Congenital Stationary, Autosomal Dominant 2 26
955 c PNT051 Pontocerebellar Hypoplasia, Type 1d 26
956 c PRX046 Peroxisome Biogenesis Disorder 7a 26
957 c PRX057 Peroxisome Biogenesis Disorder 4a 25
958 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
959 c WRB004 Warburg Micro Syndrome 3 25
960 c PRX091 Peroxisome Biogenesis Disorder 8a 25
961 HST001 Histrionic Personality Disorder 25
962 c PRX058 Peroxisome Biogenesis Disorder 4b 25
963 c ALC016 Alcohol Sensitivity, Acute 25
964 c PRX047 Peroxisome Biogenesis Disorder 5b 25
965 TRN006 Transvestism 25
966 MXD044 Mixed Sleep Apnea 25
967 c NGH027 Night Blindness, Congenital Stationary, Type 1c 24
968 c CFF011 Coffin-Siris Syndrome 6 24
969 c PRX052 Peroxisome Biogenesis Disorder 13a 24
970 c SCK029 Seckel Syndrome 7 24
971 c PNT048 Pontocerebellar Hypoplasia, Type 2c 23
972 c NGH028 Night Blindness, Congenital Stationary, Type 1d 23
973 ADT001 Auditory Agnosia 23
974 ELC001 Elective Mutism 23
975 c NGH030 Night Blindness, Congenital Stationary, Type 1f 23
976 c PRX062 Peroxisome Biogenesis Disorder 8b 23
977 c DYS120 Dyslexia 2 23
978 c CFF012 Coffin-Siris Syndrome 7 23
979 c CFF006 Coffin-Siris Syndrome 5 23
980 c PNT042 Pontocerebellar Hypoplasia, Type 2f 23
981 c SCK037 Seckel Syndrome 9 23
982 CPG001 Capgras Syndrome 23
983 c SCK038 Seckel Syndrome 10 23
984 c ATS370 Autism 3 23
985 FTS001 Fetishism 23
986 c PRS058 Prosopagnosia, Hereditary 22
987 c ATS367 Autism X-Linked 3 22
988 c DYS121 Dyslexia 1 21
989 c SCK033 Seckel Syndrome 8 21
990 c ATS371 Autism 6 21
991 c NGH008 Night Blindness, Congenital Stationary, Autosomal Dominant 3 21
992 c NGH022 Night Blindness, Congenital Stationary, Type 1g 21
993 DPR015 Depersonalization/derealization Disorder 21
994 c ATS365 Autism X-Linked 1 21
995 c PRX068 Peroxisome Biogenesis Disorder 7b 21
996 c NGH024 Night Blindness, Congenital Stationary, Type 1h 21
997 TCT002 Tactile Agnosia 21
998 c PNT052 Pontocerebellar Hypoplasia, Type 12 21
999 c PRX066 Peroxisome Biogenesis Disorder 3b 21
1000 c PRX089 Peroxisome Biogenesis Disorder 10b 21
1001 EXP001 Expressive Language Disorder 20
1002 HLL005 Hallucinogen Dependence 20
1003 c ASP032 Asperger Syndrome 1 20
1004 P PRX064 Peroxisome Biogenesis Disorder 2b 20
1005 CLT002 Cluttering 20
1006 c NGH021 Night Blindness, Congenital Stationary, Autosomal Dominant 1 20
1007 c ATS369 Autism 8 20
1008 c KLF005 Kleefstra Syndrome 2 20
1009 c SCK032 Seckel Syndrome 6 19
1010 PYR003 Pyromania 19
1011 SXL001 Sexual Sadism 19
1012 c ATS173 Autism 18 19
1013 c NRC017 Narcolepsy 7 18
1014 WRT002 Writing Disorder 18
1015 c PLL014 Pellagra-Like Syndrome 18
1016 FNG001 Finger Agnosia 18
1017 ANM002 Animal Phobia 18
1018 VRB001 Verbal Auditory Agnosia 17
1019 SXL002 Sexual Masochism 17
1020 c CHR344 Chronic Orthostatic Intolerance 17
1021 c ATS376 Autism 15 17
1022 c CFF013 Coffin-Siris Syndrome 8 17
1023 DVL019 Developmental Delay and Seizures with or Without Movement Abnormalities 17
1024 c HNT014 Huntington Disease-Like Syndrome Due to C9orf72 Expansions 17
1025 c PNC122 Panic Disorder 1 16
1026 c SPC027 Specific Language Impairment 1 16
1027 c ASP031 Asperger Syndrome 2 16
1028 c NRC011 Narcolepsy 3 16
1029 c HNT013 Huntington Disease-Like Syndrome 16
1030 c SPC023 Specific Language Impairment 5 16
1031 AST004 Astereognosia 16
1032 c FRM002 Form Agnosia 16
1033 c ATS177 Autism X-Linked 5 15
1034 c ATT020 Attention Deficit-Hyperactivity Disorder 2 14
1035 FLY001 Flying Phobia 14
1036 c KLF002 Kleefstra Syndrome Due to a Point Mutation 14
1037 c ATS170 Autism 19 14
1038 VYR001 Voyeurism 14
1039 c ATS377 Autism 16 14
1040 c ATS378 Autism 17 13
1041 c SPC028 Specific Language Impairment 2 13
1042 c DYS125 Dyslexia 8 13
1043 BST003 Bestiality 13
1044 BRB002 Barbiturate Dependence 13
1045 ATT001 Autotopagnosia 13
1046 c NRC012 Narcolepsy 4 12
1047 PSY001 Psychologic Vaginismus 12
1048 APP006 Apperceptive Agnosia 12
1049 c ATS172 Autism 10 12
1050 c ASP033 Asperger Syndrome 3 12
1051 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 12
1052 c ATS372 Autism 7 12
1053 c ATS374 Autism 12 12
1054 c ATS373 Autism 11 12
1055 c ATS375 Autism 13 12
1056 c NRC013 Narcolepsy 5 12
1057 c TRN005 Transient Tic Disorder 11
1058 c ATS171 Autism 9 11
1059 c TSB001 T-Substance Anomaly 11
1060 c ASP034 Asperger Syndrome 4 11
1061 AKN001 Akinetopsia 11
1062 c NRC018 Narcolepsy 6 11
1063 c ATT021 Attention Deficit-Hyperactivity Disorder 3 10
1064 c ATT022 Attention Deficit-Hyperactivity Disorder 4 10
1065 c SPC015 Specific Language Impairment 4 10
1066 ASS001 Associative Agnosia 10
1067 c PNC068 Panic Disorder 3 10
1068 c SPC029 Specific Language Impairment 3 10
1069 INT031 Integrative Agnosia 10
1070 c ATT019 Attention Deficit-Hyperactivity Disorder 1 10
1071 PHN002 Phonagnosia 9
1072 P RBN007 Rubinstein Taybi Like Syndrome 9
1073 c DYS122 Dyslexia 3 9
1074 c DYS124 Dyslexia 6 9
1075 c DYS123 Dyslexia 5 9
1076 c DYS126 Dyslexia 9 9
1077 c PNC070 Panic Disorder 2 9
1078 ADS003 Aids Phobia 8
1079 BRB003 Barbiturate Abuse 8
1080 MXD002 Mixed Receptive-Expressive Language Disorder 8
1081 c CRB078 Cerebrocostomandibular-Like Syndrome 8
1082 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 7
1083 HLL002 Hallucinogen Abuse 7
1084 MRR002 Mirror Agnosia 7
1085 EGD001 Ego-Dystonic Sexual Orientation 6
1086 PSY002 Psychologic Dyspareunia 6
1087 SCL006 Social Emotional Agnosia 5
1088 TPG001 Topographical Agnosia 5
1089 SMN003 Semantic Agnosia 4
1090 ANT016 Antidepressant Type Abuse 4
1091 TMG001 Time Agnosia 3
1092 CLR009 Color Agnosia 3
1093 MNT304 Mental Retardation, X-Linked, with or Without Seizures, Arx-Related 26
1094 PTT059 Pettigrew Syndrome 46
1095 MNT303 Mental Retardation, X-Linked, Syndromic, Cabezas Type 30
1096 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 61
1097 ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 42
1098 P CFF008 Coffin-Siris Syndrome 1 56
1099 P CRB185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 49
1100 MSS001 Masa Syndrome 47
1101 PRT052 Partington X-Linked Mental Retardation Syndrome 43
1102 MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 37
1103 ALP095 Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 36
1104 c MNT301 Mental Retardation, X-Linked 21 26
1105 P HRD021 Hereditary Sensory Neuropathy 50
1106 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 43
1107 c SNS009 Sensory Neuropathy Type 1 29
1108 c NRP036 Neuropathy, Hereditary Sensory, Type if 25
1109 c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 25
1110 CRP034 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 23
1111 c NRP039 Neuropathy, Hereditary Sensory, Type Id 22
1112 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 20
1113 CHR639 Chromosome Xp11.22 Duplication Syndrome 14
1114 c SPT021 Sptlc1-Related Hereditary Sensory Neuropathy 13
1115 CRB151 Cerebral Creatine Deficiency Syndrome 1 51
1116 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 46
1117 LBS001 Lubs X-Linked Mental Retardation Syndrome 44
1118 RYN006 Raynaud-Claes Syndrome 27
1119 c MNT305 Mental Retardation, X-Linked 12 21
1120 P PLY180 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 46
1121 c MNT143 Mental Retardation, Autosomal Dominant 13 42
1122 WCK001 Wieacker-Wolff Syndrome 35
1123 c MNT296 Mental Retardation, X-Linked, Syndromic 34 29
1124 MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 24
1125 RLN001 Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 19
1126 c MNT196 Mental Retardation, X-Linked 92 18
1127 P CTS001 Cutis Laxa 58
1128 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
1129 c ATS393 Autosomal Recessive Cutis Laxa Type I 50
1130 c CTS045 Cutis Laxa, Autosomal Dominant 1 49
1131 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 44
1132 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 39
1133 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 38
1134 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 35
1135 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
1136 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 34
1137 MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 33
1138 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 32
1139 LJN003 Lujan-Fryns Syndrome 32
1140 c HYP441 Hyperphosphatasia with Mental Retardation Syndrome 1 31
1141 c ACQ027 Acquired Cutis Laxa 31
1142 c CTS031 Cutis Laxa, Autosomal Dominant 2 29
1143 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 28
1144 c CTS041 Cutis Laxa, Autosomal Dominant 3 27
1145 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 24
1146 c ATP003 Atp6v0a2-Related Cutis Laxa 22
1147 c EFM001 Efemp2-Related Cutis Laxa 18
1148 c LTB003 Ltbp4-Related Cutis Laxa 17
1149 c FBL003 Fbln5-Related Cutis Laxa 9
1150 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
1151 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 58
1152 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 52
1153 CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 38
1154 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 37
1155 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 35
1156 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 34
1157 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 33
1158 MNT302 Mental Retardation, X-Linked, Syndromic, Christianson Type 31
1159 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 29
1160 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 28
1161 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 26
1162 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 26
1163 P NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 26
1164 NRD057 Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects 26
1165 c NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 21
1166 CHR174 Christianson Syndrome 36
1167 GLL028 Gillespie Syndrome 33
1168 WSM002 Waisman Syndrome 26
1169 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 21
1170 DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 17
1171 EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 46
1172 c MNT210 Mental Retardation, Autosomal Recessive 42 29
1173 MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 27
1174 c MNT295 Mental Retardation, X-Linked, Syndromic 33 25
1175 c CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 23
1176 WHT019 White-Sutton Syndrome 36
1177 XGB001 Xia-Gibbs Syndrome 30
1178 c GLY106 Glycosylphosphatidylinositol Biosynthesis Defect 11 21
1179 PCK003 Pick Disease of Brain 64
1180 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 44
1181 HLS003 Helsmoortel-Van Der Aa Syndrome 43
1182 c CFF009 Coffin-Siris Syndrome 4 40
1183 c BRT038 Baraitser-Winter Syndrome 1 38
1184 P BRT040 Baraitser-Winter Syndrome 37
1185 ALP094 Alpha Thalassemia-Intellectual Disability Syndrome Type 1 35
1186 c CFF010 Coffin-Siris Syndrome 3 34
1187 c CFF007 Coffin-Siris Syndrome 2 30
1188 c BRT039 Baraitser-Winter Syndrome 2 28
1189 EPL170 Epilepsy-Aphasia Spectrum 21
1190 KHR001 Kahrizi Syndrome 21
1191 DND017 Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures 20
1192 CRP036 Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome 14
1193 ICH006 Ichthyosis Alopecia Eclabion Ectropion Mental Retardation 6
1194 SHL003 Shoulder Girdle Defect Mental Retardation Familial 3
1195 P PTT014 Pitt-Hopkins Syndrome 54
1196 c PTT029 Pitt-Hopkins-Like Syndrome 1 36
1197 c MNT262 Mental Retardation, Autosomal Dominant 42 27
1198 c MNT270 Mental Retardation, Autosomal Recessive 53 27
1199 c PTT030 Pitt-Hopkins-Like Syndrome 2 25
1200 P MNT198 Mental Retardation, X-Linked 98 25
1201 MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 23
1202 c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 22
1203 MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 22
1204 c PTT042 Pitt-Hopkins-Like Syndrome 17
1205 INS024 Insulin-Like Growth Factor I 82
1206 ACR008 Acrocallosal Syndrome 60
1207 PRN023 Prion Disease 54
1208 c SPN291 Spinocerebellar Ataxia 7 53
1209 c SPN314 Spinocerebellar Ataxia 10 51
1210 c SPN293 Spinocerebellar Ataxia 12 51
1211 c SPN309 Spinocerebellar Ataxia 6 49
1212 c SPN312 Spinocerebellar Ataxia 14 48
1213 c SPN100 Spinocerebellar Ataxia 27 46
1214 c SPN311 Spinocerebellar Ataxia 13 46
1215 c SPN097 Spinocerebellar Ataxia 23 45
1216 c SPN103 Spinocerebellar Ataxia 31 44
1217 c SPN308 Spinocerebellar Ataxia 28 44
1218 c SPN290 Spinocerebellar Ataxia 15 43
1219 c SPN305 Spinocerebellar Ataxia 11 42
1220 c SPN265 Spinocerebellar Ataxia 36 42
1221 c SPN283 Spinocerebellar Ataxia 37 41
1222 c SPN304 Spinocerebellar Ataxia 8 41
1223 c SPN106 Spinocerebellar Ataxia 5 41
1224 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 39
1225 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 38
1226 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 37
1227 c SPN094 Spinocerebellar Ataxia 18 37
1228 KFM001 Kaufman Oculocerebrofacial Syndrome 36
1229 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 35
1230 c SPN101 Spinocerebellar Ataxia 29 35
1231 c CHR630 Chorea, Benign Hereditary 35
1232 c SPN299 Spinocerebellar Ataxia 20 35
1233 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 35
1234 c SPN095 Spinocerebellar Ataxia 19 35
1235 c SPN247 Spinocerebellar Ataxia Type 19/22 34
1236 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 34
1237 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 34
1238 c SPN266 Spinocerebellar Ataxia 35 34
1239 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 33
1240 c SPN105 Spinocerebellar Ataxia 4 33
1241 c SPN099 Spinocerebellar Ataxia 26 33
1242 c SPN383 Spinocerebellar Ataxia 42 32
1243 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 32
1244 c SPN104 Spinocerebellar Ataxia 34 31
1245 c SPN284 Spinocerebellar Ataxia 38 31
1246 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 30
1247 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 30
1248 c SPN098 Spinocerebellar Ataxia 25 30
1249 RCH002 Richards-Rundle Syndrome 29
1250 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 29
1251 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 28
1252 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 28
1253 c MNT183 Mental Retardation, Autosomal Recessive 36 28
1254 c SPN286 Spinocerebellar Ataxia 40 28
1255 c MNT248 Mental Retardation, X-Linked 102 27
1256 c SPN372 Spinocerebellar Ataxia 43 27
1257 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 27
1258 c MNT325 Mental Retardation, Autosomal Recessive 61 26
1259 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 26
1260 TNN015 Tonne-Kalscheuer Syndrome 26
1261 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 25
1262 c SPN418 Spinocerebellar Ataxia 44 25
1263 RNL120 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation 25
1264 c SPN420 Spinocerebellar Ataxia 46 25
1265 c SPN421 Spinocerebellar Ataxia 47 25
1266 c SPN102 Spinocerebellar Ataxia 30 24
1267 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 24
1268 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 24
1269 c SPN323 Spinocerebellar Ataxia 41 24
1270 c SPN427 Spinocerebellar Ataxia 48 24
1271 c SPN259 Spinocerebellar Ataxia 32 23
1272 c SPN419 Spinocerebellar Ataxia 45 22
1273 MNT320 Mental Retardation, Autosomal Dominant 6, with or Without Seizures 22
1274 c SPN107 Spinocerebellar Ataxia 9 22
1275 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 20
1276 MNT283 Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly 19
1277 c MNT294 Mental Retardation, X-Linked 106 19
1278 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 19
1279 c MNT218 Mental Retardation, X-Linked 99 19
1280 c MNT224 Mental Retardation, X-Linked 101 19
1281 c MNT223 Mental Retardation, X-Linked 100 18
1282 PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 16
1283 c GRD008 Grid2-Related Spinocerebellar Ataxia 12
1284 P CHR636 Chorea, Benign Familial 11
1285 ALX003 Alexander Disease 58
1286 PRR007 Perry Syndrome 51
1287 HMM004 Hamamy Syndrome 31
1288 c SPS092 Spastic Paraplegia 11 29
1289 CRN268 Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis 24
1290 SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 22
1291 RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 20
1292 MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 19
1293 CRD019 Cardiocranial Syndrome 12
1294 INT090 Intellectual Deficit Buenos-Aires Type 11
1295 LBN005 Lubani-Al Saleh-Teebi Syndrome 7
1296 P HNT016 Huntington Disease 73
1297 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 62
1298 P SJG002 Sjogren-Larsson Syndrome 55
1299 P MCR010 Microcephaly 55
1300 c RBN021 Rubinstein-Taybi Syndrome 1 50
1301 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 42
1302 c PRM212 Primary Microcephaly 41
1303 c MCR320 Microcephaly 17, Primary, Autosomal Recessive 41
1304 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 40
1305 c MCR238 Microcephaly 7, Primary, Autosomal Recessive 40
1306 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 39
1307 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 38
1308 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 37
1309 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 37
1310 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 36
1311 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 36
1312 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 35
1313 P MSC002 Muscular Dystrophy-Dystroglycanopathy 35
1314 c PRM031 Primary Autosomal Recessive Microcephaly 35
1315 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 34
1316 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 33
1317 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 32
1318 TMT003 Temtamy Syndrome 32
1319 c MCR329 Microcephaly, Autosomal Dominant 31
1320 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 31
1321 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 28
1322 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 28
1323 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 27
1324 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 27
1325 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 26
1326 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 25
1327 MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 25
1328 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 25
1329 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 25
1330 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24
1331 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 24
1332 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 24
1333 c MCR269 Microcephaly 15, Primary, Autosomal Recessive 24
1334 EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 24
1335 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 23
1336 c MCR360 Microcephaly 20, Primary, Autosomal Recessive 22
1337 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 21
1338 c MCR356 Microcephaly 19, Primary, Autosomal Recessive 21
1339 c MCR361 Microcephaly 21, Primary, Autosomal Recessive 19
1340 c MCR362 Microcephaly 22, Primary, Autosomal Recessive 19
1341 c MCR368 Microcephaly 24, Primary, Autosomal Recessive 17
1342 c MCR363 Microcephaly 23, Primary, Autosomal Recessive 17
1343 c MCR372 Microcephaly 25, Primary, Autosomal Recessive 15
1344 c SJG003 Sjogren-Larsson-Like Syndrome 7
1345 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 56
1346 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 53
1347 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 44
1348 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 43
1349 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 39
1350 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 39
1351 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 34
1352 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 27
1353 c MNT334 Mental Retardation, Autosomal Dominant 57 25
1354 c MNT339 Mental Retardation, Autosomal Recessive 66 24
1355 MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 22
1356 c MNT275 Mental Retardation, Autosomal Recessive 60 21
1357 c MNT267 Mental Retardation, X-Linked 104 21
1358 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 20
1359 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 20
1360 SKL011 Skeletal Defects, Genital Hypoplasia, and Mental Retardation 19
1361 c MNT289 Mental Retardation, X-Linked 103 19
1362 c MNT333 Mental Retardation, X-Linked 107 17
1363 c MNT274 Mental Retardation, X-Linked 105 16
1364 MCR370 Macrocephaly, Acquired, with Impaired Intellectual Development 15
1365 ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 15
1366 P MTC003 Metachromatic Leukodystrophy 70
1367 OBS002 Obsessive-Compulsive Disorder 68
1368 P ATT013 Attention Deficit-Hyperactivity Disorder 66
1369 c CNG411 Congenital Disorder of Glycosylation, Type in 64
1370 MYC079 Myoclonic Epilepsy of Lafora 61
1371 SLP005 Sleep Disorder 60
1372 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 59
1373 c SPN294 Spinocerebellar Ataxia 1 59
1374 P SPN301 Spinocerebellar Ataxia 2 59
1375 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
1376 WRN002 Wernicke-Korsakoff Syndrome 52
1377 P CNG412 Congenital Disorder of Glycosylation, Type Ii 52
1378 HYD061 Hydrocephalus, Normal-Pressure 51
1379 P RSM001 Rasmussen Encephalitis 50
1380 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 49
1381 c CNG191 Congenital Disorder of Glycosylation, Type Iia 49
1382 c SPN296 Spinocerebellar Ataxia 17 48
1383 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 46
1384 MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 46
1385 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 44
1386 P SMP003 Simpson-Golabi-Behmel Syndrome 44
1387 c CNG497 Congenital Disorder of Glycosylation, Type Iio 44
1388 c CNG190 Congenital Disorder of Glycosylation, Type Iib 43
1389 c CNG206 Congenital Disorder of Glycosylation, Type Ie 43
1390 c CNG504 Congenital Disorder of Glycosylation, Type Iip 43
1391 c CNG201 Congenital Disorder of Glycosylation, Type Iij 42
1392 c CNG204 Congenital Disorder of Glycosylation, Type Iih 42
1393 c CNG389 Congenital Disorder of Glycosylation, Type Iim 41
1394 c CNG209 Congenital Disorder of Glycosylation, Type Iif 41
1395 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 41
1396 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 41
1397 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
1398 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
1399 AYM001 Ayme-Gripp Syndrome 39
1400 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 39
1401 c CNG189 Congenital Disorder of Glycosylation, Type Ib 38
1402 c CNG383 Congenital Disorder of Glycosylation, Type Iik 38
1403 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
1404 c CRD226 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive 37
1405 c CNG498 Congenital Disorder of Glycosylation, Type Iin 37
1406 c CRD239 Ceroid Lipofuscinosis, Neuronal, 13 37
1407 c CNG379 Congenital Disorder of Glycosylation, Type It 36
1408 SMT020 Smith-Kingsmore Syndrome 35
1409 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 35
1410 c CNG195 Congenital Disorder of Glycosylation, Type Id 34
1411 MST006 Mast Syndrome 34
1412 c SPN096 Spinocerebellar Ataxia 21 33
1413 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
1414 c CNG205 Congenital Disorder of Glycosylation, Type Ij 32
1415 c CNG200 Congenital Disorder of Glycosylation, Type Iq 32
1416 c CNG198 Congenital Disorder of Glycosylation, Type Il 32
1417 c CNG199 Congenital Disorder of Glycosylation, Type Im 32
1418 c CNG192 Congenital Disorder of Glycosylation, Type Ik 31
1419 c CNG414 Congenital Disorder of Glycosylation, Type Iil 31
1420 c CNG188 Congenital Disorder of Glycosylation, Type if 31
1421 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
1422 c CNG185 Congenital Disorder of Glycosylation, Type Iig 30
1423 c CNG386 Congenital Disorder of Glycosylation, Type Iu 30
1424 c CNG194 Congenital Disorder of Glycosylation, Type Ig 30
1425 BLB005 Beaulieu-Boycott-Innes Syndrome 29
1426 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
1427 c CNG193 Congenital Disorder of Glycosylation, Type Ip 28
1428 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
1429 c MTC074 Metachromatic Leukodystrophy, Adult Form 28
1430 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
1431 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
1432 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 27
1433 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 27
1434 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 25
1435 c RSM003 Rasmussen Subacute Encephalitis 23
1436 CRN267 Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation 23
1437 MD2001 Med23 23
1438 GRR002 Gurrieri Syndrome 23
1439 MCR066 Microcephaly-Cardiomyopathy 22
1440 MCR305 Microcephaly with Cervical Spine Fusion Anomalies 21
1441 MCR306 Microcephaly-Deafness Syndrome 20
1442 CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 20
1443 MYT024 Myotonia with Skeletal Abnormalities and Mental Retardation 19
1444 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 19
1445 OST047 Osteopenia and Sparse Hair 19
1446 OST149 Osteolysis Syndrome, Recessive 19
1447 XLN162 X-Linked Intellectual Disability, Najm Type 18
1448 LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 17
1449 ADN078 Adnp Syndrome 16
1450 VND003 Van Den Bosch Syndrome 16
1451 INT273 Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 16
1452 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 15
1453 EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 15
1454 WLM019 Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 14
1455 KFF001 Kifafa Seizure Disorder 14
1456 CDL001 Caudal Appendage Deafness 14
1457 HNT009 Hunter-Mcalpine Syndrome 13
1458 c SYN070 Syngap1-Related Non-Syndromic Intellectual Disability 12
1459 RRD001 Reardon Wilson Cavanagh Syndrome 11
1460 c CSK002 Cask-Related Intellectual Disability 11
1461 P SYN073 Syngap1-Related Intellectual Disability 11
1462 STB003 Setbp1 Disorder 10
1463 c HVP001 Hivep2-Related Intellectual Disability 9
1464 BTT012 Battaglia-Neri Syndrome 8
1465 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 8
1466 c PPP001 Ppp2r5d-Related Intellectual Disability 8
1467 XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 8
1468 c ATS410 Autosomal Dominant Intellectual Disability 49 7
1469 c ATS360 Autosomal Recessive Intellectual Disability 58 7
1470 ART113 Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability 7
1471 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 7
1472 c ATS403 Autosomal Dominant Intellectual Disability 40 6
1473 c SN3001 Sin3a-Related Intellectual Disability Syndrome 6
1474 c ATS348 Autosomal Dominant Intellectual Disability 30 6
1475 RNL121 Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 6
1476 WDM002 Wiedemann Oldigs Oppermann Syndrome 6
1477 KZN001 Kuzniecky Andermann Syndrome 5
1478 c WCR002 Wac-Related Intellectual Disability 5
1479 c WDR002 Wdr26-Related Intellectual Disability 5
1480 c TRR002 Trio-Related Intellectual Disability 5
1481 PRG135 Progressive Dementia with Neuroserpin Inclusion Bodies 4
1482 c ARX002 Arx-Related Intellectual Disability 4
1483 c DDX001 Ddx3x-Related Intellectual Disability 4
1484 c ACS002 Acsl4-Related Intellectual Disability 4
1485 ANX010 Anxiety 73
1486 P SLP006 Sleep Apnea 70
1487 P JBR020 Joubert Syndrome 1 69
1488 ALC007 Alcohol Dependence 69
1489 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 68
1490 APN008 Apnea, Obstructive Sleep 68
1491 ANR007 Anorexia Nervosa 68
1492 LGH007 Leigh Syndrome 67
1493 GLC006 Galactosemia 65
1494 ETN001 Eating Disorder 65
1495 PST028 Post-Traumatic Stress Disorder 63
1496 P BRD002 Bardet-Biedl Syndrome 63
1497 BLM002 Bulimia Nervosa 61
1498 P NRN021 Neuronal Ceroid Lipofuscinosis 60
1499 c BRD014 Bardet-Biedl Syndrome 2 60
1500 APH002 Aphasia 59
1501 c BRD010 Bardet-Biedl Syndrome 1 59
1502 P FCS002 Fucosidosis 59
1503 P NRC002 Narcolepsy 59
1504 P PNC025 Panic Disorder 57
1505 STT041 Stuttering 55
1506 P STS008 Sotos Syndrome 1 54
1507 APR001 Apraxia 53
1508 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 53
1509 c LSS005 Lissencephaly 1 53
1510 LRN003 Learning Disability 53
1511 P SLL003 Salla Disease 52
1512 c CNG208 Congenital Disorder of Glycosylation, Type Iic 52
1513 BRX001 Bruxism 51
1514 c PNC128 Pain - Chronic 49
1515 P LSS002 Lissencephaly 49
1516 NRT001 Neurotic Disorder 47
1517 c BRD016 Bardet-Biedl Syndrome 4 47
1518 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 46
1519 LRN001 Laurence-Moon Syndrome 46
1520 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 46
1521 P HYP263 Hypersomnia 45
1522 CRB150 Cerebral Creatine Deficiency Syndrome 2 45
1523 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 45
1524 BHR002 Bohring-Opitz Syndrome 45
1525 WDM005 Wiedemann-Rautenstrauch Syndrome 44
1526 P LSS036 Lissencephaly, X-Linked, 1 44
1527 KLV001 Kluver-Bucy Syndrome 44
1528 c JBR024 Joubert Syndrome 14 43
1529 c PNT034 Pontocerebellar Hypoplasia, Type 2e 43
1530 BSL009 Basal Ganglia Calcification 43
1531 HRT030 Hartsfield Syndrome 43
1532 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 42
1533 CNV002 Conversion Disorder 42
1534 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 42
1535 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 42
1536 VNC001 Von Economo's Disease 42
1537 ALC001 Alcohol-Related Birth Defect 42
1538 c JBR015 Joubert Syndrome 6 42
1539 HYP016 Hypochondriasis 41
1540 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 41
1541 CRB148 Cerebral Creatine Deficiency Syndrome 3 41
1542 P ANX007 Anauxetic Dysplasia 1 41
1543 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 41
1544 MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 40
1545 DPR002 Depersonalization Disorder 40
1546 c JBR004 Joubert Syndrome 2 40
1547 VSL003 Visual Agnosia 40
1548 GLT019 Glut1 Deficiency Syndrome 2 39
1549 c LSS006 Lissencephaly 2 38
1550 CNC001 Cancerophobia 37
1551 P ADV001 Advanced Sleep Phase Syndrome 37
1552 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 37
1553 c BSL038 Basal Ganglia Calcification, Idiopathic, 1 36
1554 DYS003 Dysgraphia 36
1555 P PRS013 Prosopagnosia 35
1556 P HYP111 Hyperprolinemia 35
1557 c JBR025 Joubert Syndrome 17 35
1558 c JBR041 Joubert Syndrome 3 34
1559 VSC004 Vasculogenic Impotence 34
1560 c JBR012 Joubert Syndrome 5 32
1561 c JBR022 Joubert Syndrome 20 32
1562 c LSS010 Lissencephaly 4 32
1563 c LSS037 Lissencephaly, X-Linked, 2 31
1564 CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 31
1565 IMM056 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 30
1566 c CRD225 Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant 30
1567 MCR025 Microhydranencephaly 30
1568 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 30
1569 GRN004 Granulomatous Amebic Encephalitis 30
1570 c NGH029 Night Blindness, Congenital Stationary, Type 1e 29
1571 c JBR014 Joubert Syndrome 9 29
1572 c HYP248 Hyperprolinemia, Type I 29
1573 c STS007 Sotos Syndrome 2 28
1574 SML010 Simultanagnosia 28
1575 c JBR026 Joubert Syndrome 15 28
1576 c CNT068 Central Pain Syndrome 28
1577 c JBR016 Joubert Syndrome 10 27
1578 c JBR031 Joubert Syndrome 21 27
1579 NRD028 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 26
1580 c JBR013 Joubert Syndrome 8 26
1581 c JBR018 Joubert Syndrome 4 26
1582 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 26
1583 P ENC054 Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations 26
1584 c JBR011 Joubert Syndrome 7 26
1585 CMB002 Combat Disorder 26
1586 HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 26
1587 c PRK081 Parkinson Disease 19a, Juvenile-Onset 26
1588 c LSS025 Lissencephaly 5 25
1589 c LSS009 Lissencephaly 3 25
1590 c JBR042 Joubert Syndrome 23 25
1591 c JBR030 Joubert Syndrome 22 25
1592 c JBR037 Joubert Syndrome 26 25
1593 ALC002 Alcohol-Related Neurodevelopmental Disorder 24
1594 PRT001 Partial Fetal Alcohol Syndrome 23
1595 c JBR035 Joubert Syndrome 24 23
1596 c HYP597 Hyperprolinemia, Type Ii 23
1597 c JBR039 Joubert Syndrome 28 23
1598 c LSS035 Lissencephaly 8 23
1599 c JBR021 Joubert Syndrome 18 23
1600 c BSL035 Basal Ganglia Calcification, Idiopathic, 5 23
1601 CMB083 Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia 23
1602 c JBR027 Joubert Syndrome 16 22
1603 c JBR047 Joubert Syndrome 35 22
1604 c JBR040 Joubert Syndrome 30 22
1605 c JBR043 Joubert Syndrome 32 22
1606 c JBR028 Joubert Syndrome 13 22
1607 c BSL039 Basal Ganglia Calcification, Idiopathic, 6 21
1608 c MCR255 Microcephaly 9, Primary, Autosomal Recessive 21
1609 SHH004 Shaheen Syndrome 21
1610 c JBR045 Joubert Syndrome 33 21
1611 c ANX008 Anauxetic Dysplasia 2 21
1612 c JBR036 Joubert Syndrome 25 21
1613 c JBR044 Joubert Syndrome 31 21
1614 c JBR038 Joubert Syndrome 27 20
1615 c ATS358 Autism X-Linked 6 20
1616 c ADV003 Advanced Sleep Phase Syndrome, Familial, 1 20
1617 CRT007 Cortical Deafness 20
1618 c STS009 Sotos Syndrome 3 19
1619 P BSL046 Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive 19
1620 c ATS268 Autism X-Linked 4 19
1621 NRD025 Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations 18
1622 c BSL032 Basal Ganglia Calcification, Idiopathic, 4 18
1623 c ADV006 Advanced Sleep Phase Syndrome, Familial, 3 16
1624 c BSL031 Basal Ganglia Calcification, Idiopathic, 2 15
1625 c PLY181 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 15
1626 c MCP022 Mecp2-Related Severe Neonatal Encephalopathy 12
1627 VSL001 Visual Verbal Agnosia 10
1628 c INT094 Intermediate Severe Salla Disease 9
1629 c ADV008 Advanced Sleep Phase Syndrome 2 9
1630 GNR012 Generalized Gangliosidoses 9
1631 FTL063 Fetal Nicotine Spectrum Disorder 3
1632 CWC001 Cowchock Syndrome 36
1633 LKN025 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 56
1634 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 50
1635 CRT072 Creutzfeldt-Jakob Disease 67
1636 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 57
1637 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 51
1638 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 30
1639 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 29
1640 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 25
1641 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 23
1642 c AMY091 Amyotrophic Lateral Sclerosis 1 90
1643 ENC039 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 43
1644 OPT062 Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures 19
1645 BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 25
1646 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 56
1647 c WRB002 Warburg Micro Syndrome 1 44
1648 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 42
1649 BHR001 Behr Syndrome 40
1650 FTL002 Fatal Familial Insomnia 51
1651 MRS004 Marshall-Smith Syndrome 40
1652 c DFN036 Deafness, X-Linked 2 38
1653 MMS001 Momo Syndrome 29
1654 c DFN105 Deafness, X-Linked 5 26
1655 c DFN147 Deafness, X-Linked 4 22
1656 c DFN194 Deafness, X-Linked 1 21
1657 P XLN004 X-Linked Nonsyndromic Deafness 21
1658 c DFN276 Deafness, X-Linked 6 21
1659 c DFN370 Deafness, X-Linked 7 19
1660 c DFN146 Deafness, X-Linked 3 17
1661 c DFN186 Deafness, Y-Linked 1 16
1662 c DFN372 Deafness, Y-Linked 2 11
1663 P MPL001 Maple Syrup Urine Disease 64
1664 WVR001 Weaver Syndrome 60
1665 HPT019 Hepatic Encephalopathy 60
1666 c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 60
1667 P TRC102 Trichothiodystrophy 1, Photosensitive 59
1668 c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 49
1669 KLN009 Kleine-Levin Hibernation Syndrome 49
1670 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 44
1671 c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 43
1672 WYB002 Wyburn-Mason Syndrome 31
1673 ADL060 Adult Polyglucosan Body Disease 30
1674 ZTT001 Zttk Syndrome 29
1675 c INT262 Intermediate Maple Syrup Urine Disease 22
1676 2Q3001 2q37 Deletion Syndrome 21
1677 FKY002 Fukuyama Type Muscular Dystrophy 21
1678 NRP046 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers 20
1679 c TRC100 Trichothiodystrophy 3, Photosensitive 20
1680 c TRC099 Trichothiodystrophy 2, Photosensitive 18
1681 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 17
1682 RMS002 Ramos Arroyo Clark Syndrome 9
1683 BRN028 Brain Cancer 72
1684 GLL008 Gilles De La Tourette Syndrome 67
1685 P CCK001 Cockayne Syndrome 65
1686 P FTL001 Fetal Alcohol Syndrome 63
1687 c MNN047 Mannosidosis, Alpha B, Lysosomal 63
1688 P AGN002 Agnosia 61
1689 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 56
1690 ARS001 Aarskog-Scott Syndrome 56
1691 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 52
1692 P MNN019 Mannosidosis, Beta a, Lysosomal 52
1693 c CCK008 Cockayne Syndrome a 51
1694 c CCK007 Cockayne Syndrome B 50
1695 c FTL006 Fetal Alcohol Spectrum Disorder 50
1696 INS023 Insensitivity to Pain, Congenital, with Anhidrosis 48
1697 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 47
1698 TRC010 Trichotillomania 47
1699 c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 45
1700 P NRD007 Neurodegeneration with Brain Iron Accumulation 45
1701 PRM175 Primary Familial Brain Calcification 44
1702 P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 41
1703 KRT013 Keratolytic Winter Erythema 39
1704 GLT018 Glut1 Deficiency Syndrome 1 38
1705 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 37
1706 c PRK085 Parkinson Disease 1, Autosomal Dominant 36
1707 P PRR025 Perrault Syndrome 34
1708 CRP033 Corpus Callosum, Agenesis of, with Abnormal Genitalia 33
1709 c CCK002 Cockayne Syndrome Type I 31
1710 c CCK003 Cockayne Syndrome Type Ii 29
1711 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 29
1712 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 29
1713 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 29
1714 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 27
1715 c PRR020 Perrault Syndrome 1 27
1716 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 27
1717 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 27
1718 c MCR331 Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii 26
1719 c PRR026 Perrault Syndrome 5 26
1720 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 26
1721 c CCK004 Cockayne Syndrome Type Iii 25
1722 c PRR024 Perrault Syndrome 3 24
1723 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 24
1724 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 24
1725 c PRR021 Perrault Syndrome 4 22
1726 c PRR022 Perrault Syndrome 2 19
1727 c PRR033 Perrault Syndrome 6 18
1728 VSC007 Vascular Disease 72
1729 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 57
1730 SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 53
1731 PNN005 Panencephalitis, Subacute Sclerosing 46
1732 MTH026 Methemoglobinemia Due to Deficiency of Methemoglobin Reductase 34
1733 DGL002 D-Glyceric Aciduria 29
1734 c ADV007 Advanced Sleep Phase Syndrome, Familial, 2 19



Content
Loading form....