Mental Diseases Category (1464 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 59
2 P FRN006 Frontotemporal Dementia 67
3 DMN031 Dementia, Lewy Body 66
4 RNP003 Renpenning Syndrome 1 52
5 c MNT135 Mental Retardation, X-Linked, Syndromic 13 36
6 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 63
7 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 35
8 P HRD084 Hereditary Cerebral Amyloid Angiopathy 26
9 c GRN014 Grn-Related Frontotemporal Dementia 37
10 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 36
11 AMY027 Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 29
12 VSC002 Vascular Dementia 58
13 FRN051 Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related 52
14 P FRN044 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 43
15 c CHM002 Chmp2b-Related Frontotemporal Dementia 18
16 P ALZ034 Alzheimer Disease 87
17 c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 59
18 c ALZ049 Alzheimer Disease 2 59
19 c ALZ056 Alzheimer Disease 3 47
20 c ALZ054 Alzheimer Disease 4 41
21 c ERL006 Early-Onset Familial Alzheimer Disease 38
22 c ALZ050 Alzheimer Disease 5 37
23 c ALZ062 Alzheimer Disease 19 28
24 c ALZ002 Alzheimer Disease Type 1 25
25 c ALZ016 Alzheimer Disease 8 23
26 c ALZ015 Alzheimer Disease 6 23
27 c ALZ045 Alzheimer Disease 9 21
28 c ALZ057 Alzheimer Disease 10 20
29 c ALZ012 Alzheimer Disease 12 20
30 c ALZ053 Alzheimer Disease 7 20
31 c ALZ060 Alzheimer Disease 14 19
32 c ALZ059 Alzheimer Disease 13 17
33 c ALZ032 Alzheimer Disease 18 17
34 c ALZ058 Alzheimer Disease 11 17
35 c ALZ061 Alzheimer Disease 15 16
36 c ALZ031 Alzheimer Disease 17 15
37 c ALZ014 Alzheimer Disease 16 15
38 FRN030 Frontotemporal Dementia with Parkinsonism-17 31
39 MHM001 Mehmo Syndrome 28
40 P HYP553 Hyperphosphatasia with Mental Retardation Syndrome 3 21
41 SMN008 Semantic Dementia 54
42 MNT056 Mental Retardation, X-Linked, Syndromic, Nascimento Type 25
43 BRJ001 Borjeson-Forssman-Lehmann Syndrome 54
44 MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 25
45 RTN207 Retinopathy, Pigmentary, and Mental Retardation 19
46 ALP025 Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 11
47 DMN002 Dementia 68
48 DSS008 Disease of Mental Health 52
49 KHL003 Kohlschutter-Tonz Syndrome 35
50 MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 27
51 BNS003 Binswanger's Disease 45
52 SYN092 Syndromic X-Linked Intellectual Disability Cabezas Type 20
53 SPN350 Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration 20
54 PRN009 Paranoid Schizophrenia 48
55 MNT310 Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 27
56 MDD011 Mood Disorder 63
57 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia 33
58 P MNT319 Mental Retardation, Autosomal Dominant 20 28
59 c MNT155 Mental Retardation, Autosomal Recessive 2 23
60 c MNT200 Mental Retardation, X-Linked 97 17
61 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 67
62 P INF016 Infantile Epileptic Encephalopathy 54
63 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 52
64 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 48
65 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 40
66 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 37
67 SYN089 Syndromic X-Linked Intellectual Disability Snyder Type 35
68 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 35
69 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 32
70 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 30
71 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 27
72 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 26
73 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 26
74 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 26
75 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 25
76 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 24
77 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 24
78 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 23
79 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 23
80 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 23
81 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 23
82 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 23
83 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 22
84 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 22
85 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 22
86 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 22
87 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 22
88 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 22
89 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 22
90 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21
91 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 21
92 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 21
93 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 21
94 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 21
95 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 21
96 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 21
97 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 20
98 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 20
99 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 20
100 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 20
101 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 20
102 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 20
103 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 20
104 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 20
105 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 20
106 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 20
107 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 20
108 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 20
109 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 20
110 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 20
111 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 19
112 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 19
113 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 19
114 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 18
115 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 17
116 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 17
117 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 16
118 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 16
119 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 16
120 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 16
121 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 15
122 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 15
123 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 15
124 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 14
125 c INF166 Infantile Epileptic Encephalopathy 55 9
126 c INF169 Infantile Epileptic Encephalopathy 59 9
127 c INF165 Infantile Epileptic Encephalopathy 56 8
128 c INF167 Infantile Epileptic Encephalopathy 57 8
129 c INF168 Infantile Epileptic Encephalopathy 58 8
130 MNT307 Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 24
131 c CRB195 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 19
132 AMY107 Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia 19
133 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 23
134 DRM023 Dermoodontodysplasia 21
135 STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 21
136 MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 19
137 DMN012 Dementia - Subcortical 15
138 P ATS366 Autism X-Linked 2 43
139 ADS004 Aids Dementia Complex 41
140 c MJR007 Major Affective Disorder 1 36
141 HLS003 Helsmoortel-Van Der Aa Syndrome 27
142 ARM006 Armfield X-Linked Mental Retardation Syndrome 21
143 c ATS268 Autism X-Linked 4 21
144 c ATS367 Autism X-Linked 3 20
145 c ATS365 Autism X-Linked 1 20
146 c ATS358 Autism X-Linked 6 19
147 CTR173 Cataract, Ataxia, Short Stature, and Mental Retardation 16
148 c ATS177 Autism X-Linked 5 13
149 PRS056 Presenile Dementia, Kraepelin Type 11
150 SYN083 Syndromic X-Linked Intellectual Disability Shashi Type 9
151 PSY004 Psychotic Disorder 71
152 P SCH015 Schizophrenia 69
153 P MJR001 Major Depressive Disorder 65
154 c ERL020 Early-Onset Schizophrenia 51
155 c SCH079 Schizophrenia 1 46
156 FRN013 Frontotemporal Dementia, Chromosome 3-Linked 32
157 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 31
158 c SCH082 Schizophrenia 5 26
159 c MNT157 Mental Retardation, Autosomal Dominant 18 25
160 SCH074 Schuurs-Hoeijmakers Syndrome 24
161 c SCH085 Schizophrenia 2 21
162 c SCH080 Schizophrenia 3 20
163 c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 19
164 c SCH051 Schizophrenia 4 19
165 c SCH081 Schizophrenia 6 18
166 c SCH064 Schizophrenia 10 18
167 c SCH075 Schizophrenia 19 16
168 c SCH087 Schizophrenia 18 15
169 c SCH056 Schizophrenia 15 15
170 c SCH045 Schizophrenia 12 15
171 c SCH073 Schizophrenia 9 14
172 c SCH052 Schizophrenia 14 14
173 c MJR013 Major Depressive Disorder 1 13
174 c SCH061 Schizophrenia 16 13
175 c SCH084 Schizophrenia 8 13
176 c SCH053 Schizophrenia 13 13
177 c SCH083 Schizophrenia 7 13
178 c SCH086 Schizophrenia 11 13
179 c MJR014 Major Depressive Disorder 2 12
180 BRK009 Birk-Barel Mental Retardation Dysmorphism Syndrome 33
181 c MNT185 Mental Retardation, Autosomal Dominant 7 28
182 P SPN202 Spinocerebellar Ataxia, X-Linked 1 28
183 c MNT212 Mental Retardation, Autosomal Dominant 26 27
184 c MNT322 Mental Retardation, Autosomal Dominant 27 25
185 c MNT241 Mental Retardation, Autosomal Dominant 32 24
186 c MNT222 Mental Retardation, Autosomal Dominant 29 24
187 c MNT214 Mental Retardation, Autosomal Dominant 24 24
188 P MNT298 Mental Retardation, X-Linked, Syndromic, 35 24
189 c MNT246 Mental Retardation, Autosomal Dominant 38 24
190 c MNT150 Mental Retardation, Autosomal Recessive 15 23
191 c MNT239 Mental Retardation, Autosomal Dominant 35 23
192 c MNT219 Mental Retardation, Autosomal Dominant 30 23
193 c MNT226 Mental Retardation, Autosomal Dominant 31 23
194 c SPN364 Spinocerebellar Ataxia, X-Linked 3 23
195 c MNT321 Mental Retardation, Autosomal Recessive 37 23
196 c MNT238 Mental Retardation, Autosomal Dominant 34 22
197 c MNT159 Mental Retardation, Autosomal Dominant 19 22
198 c MNT211 Mental Retardation, Autosomal Dominant 23 22
199 AMY104 Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia 22
200 c MNT245 Mental Retardation, Autosomal Dominant 36 22
201 c MNT236 Mental Retardation, Autosomal Dominant 39 21
202 c MNT207 Mental Retardation, X-Linked, Syndromic 32 21
203 XGB001 Xia-Gibbs Syndrome 21
204 c MNT179 Mental Retardation, Autosomal Dominant 21 21
205 c MNT240 Mental Retardation, Autosomal Dominant 33 21
206 INC031 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 20
207 c MNT154 Mental Retardation, Autosomal Recessive 14 20
208 MNT058 Mental Retardation, X-Linked, Syndromic, Turner Type 20
209 c SPN363 Spinocerebellar Ataxia, X-Linked 4 19
210 c SPN203 Spinocerebellar Ataxia, X-Linked 5 19
211 c MNT151 Mental Retardation, Autosomal Recessive 18 18
212 c MNT184 Mental Retardation, Autosomal Dominant 11 18
213 c MNT186 Mental Retardation, Autosomal Dominant 10 18
214 MNT057 Mental Retardation, X-Linked, Syndromic, Raymond Type 18
215 c SPN403 Spinocerebellar Ataxia, X-Linked 2 14
216 AMY102 Amyotrophic Lateral Sclerosis, Juvenile, with Dementia 12
217 KFR001 Kufor-Rakeb Syndrome 46
218 c MJR008 Major Affective Disorder 2 36
219 AMY106 Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia 36
220 c MJR004 Major Affective Disorder 4 32
221 ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 31
222 c MJR003 Major Affective Disorder 6 31
223 c MJR006 Major Affective Disorder 5 29
224 MLS013 Miles-Carpenter Syndrome 28
225 HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 25
226 BRK011 Brooks-Wisniewski-Brown Syndrome 25
227 c MNT191 Mental Retardation, X-Linked, Syndromic 17 22
228 MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 19
229 MNT257 Mental Retardation, X-Linked, with Craniofacial Dysmorphism 17
230 FLL034 Fallot Complex with Severe Mental and Growth Retardation 17
231 ABD008 Abidi X-Linked Mental Retardation Syndrome 16
232 CRN293 Craniosynostosis-Mental Retardation-Clefting Syndrome 15
233 ORG003 Organic Mood Syndrome 11
234 XLN023 X-Linked Mental Retardation Craniofacial Abnormal Microcephaly Club 11
235 SYN081 Syndromic X-Linked Intellectual Disability Abidi Type 11
236 SYN090 Syndromic X-Linked Intellectual Disability Turner Type 9
237 ATS388 Autosomal Dominant Non-Syndromic Intellectual Disability 6 8
238 THM007 Thumb Stiff Brachydactyly Mental Retardation 4
239 c RBN021 Rubinstein-Taybi Syndrome 1 49
240 c BPL002 Bipolar I Disorder 49
241 c RBN008 Rubinstein-Taybi Syndrome 2 29
242 c FRN040 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 26
243 c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 25
244 c MNT158 Mental Retardation, Autosomal Dominant 22 25
245 c FRN043 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 24
246 DMN026 Dementia Pugilistica 24
247 c FRN045 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 23
248 c MNT273 Mental Retardation, Autosomal Dominant 44 22
249 PRN010 Paranoid Personality Disorder 22
250 c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 22
251 P ALP076 Alopecia-Mental Retardation Syndrome 1 17
252 P RBN007 Rubinstein Taybi Like Syndrome 5
253 DPR016 Depression 72
254 PRN023 Prion Disease 50
255 P MJR023 Major Affective Disorder 7 35
256 CHR543 Chromosome 2q37 Deletion Syndrome 34
257 AMY099 Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia 27
258 c MNT145 Mental Retardation, Autosomal Recessive 5 26
259 c MNT280 Mental Retardation, Autosomal Dominant 43 25
260 c MNT166 Mental Retardation, Autosomal Recessive 39 24
261 c MNT213 Mental Retardation, Autosomal Recessive 40 24
262 c MNT242 Mental Retardation, Autosomal Dominant 40 23
263 OHD003 Ohdo Syndrome, X-Linked 23
264 c MNT216 Mental Retardation, Autosomal Recessive 41 23
265 c MNT176 Mental Retardation, Autosomal Recessive 38 23
266 c MNT221 Mental Retardation, Autosomal Recessive 44 22
267 c MNT244 Mental Retardation, Autosomal Recessive 49 21
268 c MNT227 Mental Retardation, Autosomal Recessive 46 21
269 c MNT177 Mental Retardation, Autosomal Recessive 27 21
270 c MNT323 Mental Retardation, Autosomal Dominant 48 21
271 INC015 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 20
272 c MNT234 Mental Retardation, Autosomal Recessive 48 20
273 c MNT220 Mental Retardation, Autosomal Recessive 45 20
274 c MNT328 Mental Retardation, Autosomal Dominant 52 20
275 c MNT215 Mental Retardation, Autosomal Recessive 43 20
276 c MNT225 Mental Retardation, Autosomal Recessive 47 20
277 AMY105 Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia 20
278 c MNT272 Mental Retardation, Autosomal Dominant 41 19
279 c MNT324 Mental Retardation, Autosomal Dominant 49 19
280 c MNT329 Mental Retardation, Autosomal Dominant 53 19
281 c MNT286 Mental Retardation, Autosomal Dominant 45 18
282 c MNT327 Mental Retardation, Autosomal Dominant 51 18
283 c MNT264 Mental Retardation, Autosomal Recessive 52 18
284 c MNT330 Mental Retardation, Autosomal Dominant 54 18
285 c MNT326 Mental Retardation, Autosomal Dominant 50 18
286 c MNT279 Mental Retardation, Autosomal Dominant 47 18
287 c MNT243 Mental Retardation, Autosomal Recessive 50 18
288 c MNT278 Mental Retardation, Autosomal Dominant 46 17
289 AMM001 Amme Complex 16
290 c MNT195 Mental Retardation, X-Linked 96 15
291 MNT107 Mental Retardation, Fra12a Type 14
292 c MNT332 Mental Retardation, Autosomal Dominant 56 14
293 P PRS038 Personality Disorder 64
294 c AMY090 Amyotrophic Lateral Sclerosis 8 42
295 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 42
296 CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 41
297 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 41
298 OHD004 Ohdo Syndrome 40
299 c AMY067 Amyotrophic Lateral Sclerosis 18 38
300 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 38
301 c AMY069 Amyotrophic Lateral Sclerosis 21 38
302 CHL012 Childhood Disintegrative Disease 37
303 c CRB193 Cerebral Amyloid Angiopathy, App-Related 37
304 c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 34
305 c MJR022 Major Affective Disorder 8 34
306 c MLT010 Multiple Personality Disorder 33
307 c AMY085 Amyotrophic Lateral Sclerosis 9 33
308 c AMY088 Amyotrophic Lateral Sclerosis 3 32
309 c AMY059 Amyotrophic Lateral Sclerosis 19 32
310 c MJR024 Major Affective Disorder 9 32
311 c AMY083 Amyotrophic Lateral Sclerosis 11 32
312 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 31
313 CKS001 Ck Syndrome 26
314 c AMY074 Amyotrophic Lateral Sclerosis Type 14 26
315 c AMY063 Amyotrophic Lateral Sclerosis 20 26
316 c AMY089 Amyotrophic Lateral Sclerosis 7 26
317 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 24
318 c AMY055 Amyotrophic Lateral Sclerosis 17 24
319 c AMY062 Amyotrophic Lateral Sclerosis 12 23
320 ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 23
321 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 22
322 c AMY022 Amyotrophic Lateral Sclerosis Type 5 22
323 HLL013 Hall-Riggs Mental Retardation Syndrome 22
324 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 21
325 RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 20
326 GMS002 Gms Syndrome 20
327 BLP044 Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 19
328 c GLY103 Glycosylphosphatidylinositol Biosynthesis Defect 15 18
329 c AMY108 Amyotrophic Lateral Sclerosis 23 17
330 PTR031 Pterygium Colli and Mental Retardation with Facial and Digital Anomalies 17
331 WLF012 Wolff Mental Retardation Syndrome 17
332 ULN022 Ulnar Hypoplasia with Mental Retardation 16
333 LMB066 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 16
334 c MNT204 Mental Retardation, X-Linked 23 15
335 SPN347 Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 15
336 SPS218 Spastic Diplegia and Mental Retardation 15
337 c MNT202 Mental Retardation, X-Linked 53 15
338 c GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 15
339 SCH022 Schimke X-Linked Mental Retardation Syndrome 15
340 HYP183 Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features 15
341 P MNT312 Mental Health Wellness 1 14
342 c AMY112 Amyotrophic Lateral Sclerosis 25 14
343 c MJR021 Major Affective Disorder 3 11
344 c AMY110 Amyotrophic Lateral Sclerosis 24 11
345 MNT311 Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration 11
346 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 11
347 KCN019 Kcnk9 Imprinting Syndrome 10
348 c TRD001 Tardbp-Related Amyotrophic Lateral Sclerosis 9
349 SYN093 Syndromic X-Linked Intellectual Disability Raymond Type 8
350 ATS389 Autosomal Dominant Non-Syndromic Intellectual Disability 8 8
351 c MNT313 Mental Health Wellness 2 7
352 CTS013 Cutis Verticis Gyrata Mental Deficiency 6
353 PTR009 Pterygium Colli Mental Retardation Digital Anomalies 5
354 CNG099 Congenital Heart Disease Radio Ulnar Synostosis Mental Retardation 3
355 CRN100 Craniosynostosis Mental Retardation Heart Defects 3
356 PRT057 Proteus Like Syndrome Mental Retardation Eye Defect 3
357 LKM007 Leukomelanoderma Mental Redardation Hypotrichosis 3
358 EPL007 Epilepsy Mental Deterioration Finnish Type 3
359 CRN064 Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation 3
360 SZR004 Seizures Mental Retardation Hair Dysplasia 3
361 ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53
362 FGS004 Fg Syndrome 4 19
363 HYP646 Hypomagnesemia, Seizures, and Mental Retardation 17
364 SBN004 Sabinas Brittle Hair Syndrome 16
365 MNT306 Mental Retardation, X-Linked, Syndromic, Houge Type 12
366 P PRK057 Parkinson Disease, Late-Onset 76
367 CLF027 Cleft Palate, Isolated 63
368 SMT006 Somatoform Disorder 55
369 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 52
370 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 41
371 c ERL056 Early-Onset Parkinson's Disease 40
372 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 39
373 c PRK090 Parkinson Disease 3, Autosomal Dominant 38
374 c PRK025 Parkinson Disease 10 35
375 c PRK085 Parkinson Disease 1, Autosomal Dominant 31
376 c PRK071 Parkinson Disease 14, Autosomal Recessive 30
377 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 28
378 c PRK093 Parkinson Disease 8, Autosomal Dominant 27
379 RCH010 Richieri-Costa/guion-Almeida Syndrome 25
380 c PRK065 Parkinson Disease 20, Early-Onset 25
381 c HRD173 Hereditary Late-Onset Parkinson Disease 25
382 JWD001 Jawad Syndrome 24
383 c MNT287 Mental Retardation, Autosomal Recessive 57 24
384 c PRK081 Parkinson Disease 19a, Juvenile-Onset 24
385 ART103 Arthrogryposis, Mental Retardation, and Seizures 23
386 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 23
387 SFR001 Sifrim-Hitz-Weiss Syndrome 22
388 c PRK052 Parkinson Disease 17 22
389 c PRK070 Parkinson Disease 21 22
390 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 22
391 c MNT282 Mental Retardation, Autosomal Recessive 55 22
392 c PRK091 Parkinson Disease 4, Autosomal Dominant 22
393 c JVN058 Juvenile-Onset Parkinson's Disease 21
394 c PRK099 Parkinson Disease 18, Autosomal Dominant 21
395 c MNT285 Mental Retardation, Autosomal Recessive 58 21
396 c PRK094 Parkinson Disease 11, Autosomal Dominant 20
397 CLF050 Cleft Palate, Cardiac Defects, and Mental Retardation 20
398 c PRK096 Parkinson Disease 13, Autosomal Dominant 19
399 CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 19
400 c MNT263 Mental Retardation, Autosomal Recessive 51 19
401 CRB158 Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 19
402 c MNT197 Mental Retardation, X-Linked, Syndromic 9 18
403 c MNT277 Mental Retardation, Autosomal Recessive 54 18
404 c MNT281 Mental Retardation, Autosomal Recessive 59 18
405 c PRK022 Parkinson Disease 12 17
406 c MNT284 Mental Retardation, Autosomal Recessive 56 17
407 MNT118 Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 17
408 c PRK083 Parkinson Disease 22, Autosomal Dominant 16
409 c LRR001 Lrrk2-Related Parkinson Disease 16
410 c PRK098 Parkinson Disease 5, Autosomal Dominant 16
411 c PRK058 Parkinson Disease 16 13
412 MNT331 Mental Retardation, Autosomal Dominant 55, with Seizures 12
413 c VPS003 Vps35-Related Parkinson Disease 8
414 c BPL001 Bipolar Ll Disorder 5
415 MNT002 Mental Depression 57
416 P OLV001 Olivopontocerebellar Atrophy 50
417 BHV002 Behavioral Variant of Frontotemporal Dementia 40
418 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 31
419 CLB026 Colobomatous Microphthalmia 30
420 MGL033 Megalocornea-Mental Retardation Syndrome 28
421 DRG004 Drug-Induced Mental Disorder 26
422 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 25
423 c SYN078 Syndromic X-Linked Intellectual Disability Type 10 24
424 c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 23
425 c AMY023 Amyotrophic Lateral Sclerosis Type 6 23
426 ALC013 Alcohol-Induced Mental Disorder 23
427 P SYN064 Syndromic X-Linked Intellectual Disability 22
428 c MNT181 Mental Retardation, Autosomal Recessive 35 22
429 c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 21
430 ALP085 Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 21
431 MNT256 Mental Retardation, Buenos Aires Type 21
432 c MCR272 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 20
433 SPN368 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 20
434 MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 20
435 NNS032 Non-Syndromic X-Linked Intellectual Disability 20
436 KNN010 Kennerknecht Syndrome 19
437 c MNT162 Mental Retardation, Autosomal Recessive 24 19
438 c MNT163 Mental Retardation, Autosomal Recessive 30 19
439 PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 19
440 c MNT172 Mental Retardation, Autosomal Recessive 25 18
441 c MNT167 Mental Retardation, Autosomal Recessive 16 18
442 CHR397 Chromosome Xp11.3 Deletion Syndrome 18
443 HYP688 Hypospadias-Mental Retardation Syndrome 18
444 c MNT165 Mental Retardation, Autosomal Recessive 28 18
445 c MNT180 Mental Retardation, Autosomal Recessive 33 18
446 MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 18
447 ARL006 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 18
448 c MNT182 Mental Retardation, Autosomal Recessive 19 18
449 SPN344 Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 18
450 BRC121 Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation 18
451 CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 17
452 c MNT170 Mental Retardation, Autosomal Recessive 23 17
453 SPS226 Spastic Paraplegia, Ataxia, and Mental Retardation 17
454 RSS027 Russell-Silver Syndrome, X-Linked 17
455 DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 17
456 MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 17
457 c MNT161 Mental Retardation, Autosomal Recessive 29 17
458 CHM001 Cahmr Syndrome 17
459 c MNT160 Mental Retardation, Autosomal Recessive 31 16
460 ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 16
461 c SYN056 Syndromic X-Linked Intellectual Disability 7 16
462 c MNT247 Mental Retardation, X-Linked 73 16
463 HRD035 Hair Defect with Photosensitivity and Mental Retardation 16
464 ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 16
465 ART029 Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 15
466 MNT030 Mental Retardation Syndrome, Belgian Type 15
467 OPH013 Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency 15
468 EHL082 Ehlers-Danlos Syndrome, Beasley-Cohen Type 15
469 SPS195 Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 15
470 CHR580 Choroid Plexus Calcification and Mental Retardation 15
471 MNT255 Mental Retardation and Psoriasis 15
472 GRW038 Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 15
473 ECT104 Ectodermal Dysplasia with Mental Retardation and Syndactyly 15
474 CRN103 Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 15
475 MRF017 Marfanoid Mental Retardation Syndrome, Autosomal 15
476 c AMY079 Amyotrophic Lateral Sclerosis Type 15 15
477 c SYN082 Syndromic X-Linked Intellectual Disability 14 15
478 c OLV005 Olivopontocerebellar Atrophy V 14
479 c MNT194 Mental Retardation, X-Linked 50 14
480 CTS046 Cutis Verticis Gyrata and Mental Retardation 14
481 MNT315 Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 14
482 SYN079 Syndromic X-Linked Intellectual Disability Siderius Type 14
483 STR102 Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Features 13
484 HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 13
485 SPS194 Spastic Paresis, Glaucoma, and Mental Retardation 13
486 DWR021 Dwarfism, Mental Retardation, and Eye Abnormality 13
487 MNT039 Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 13
488 PRK068 Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments 13
489 CRM012 Cree Mental Retardation Syndrome 13
490 HYP816 Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes 13
491 c OLV006 Olivopontocerebellar Atrophy Ii, Autosomal Recessive 13
492 MNT250 Mental Retardation with Spastic Paraplegia 13
493 MNT316 Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 13
494 MND028 Mandibulofacial Dysostosis with Mental Retardation 12
495 c MNT333 Mental Retardation, X-Linked 107 12
496 SPS193 Spastic Paraplegia, Epilepsy, and Mental Retardation 12
497 MTR081 Motor Neuron Disease with Dementia and Ophthalmoplegia 12
498 FCL076 Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 12
499 CTR179 Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy 12
500 c ALP075 Alopecia-Mental Retardation Syndrome 2 11
501 ART149 Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies 11
502 c MNT205 Mental Retardation, X-Linked 42 11
503 PRN067 Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 11
504 ART055 Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies 11
505 AMY015 Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 11
506 VTL010 Vitiligo, Progressive, with Mental Retardation and Urethral Duplication 11
507 c AMY109 Amyotrophic Lateral Sclerosis Type 22 10
508 SPN396 Spinal Muscular Atrophy with Mental Retardation 10
509 c ALP063 Alopecia-Mental Retardation Syndrome 3 10
510 CTS047 Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation 10
511 HYP783 Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 10
512 ATX043 Ataxia with Myoclonic Epilepsy and Presenile Dementia 10
513 SPS217 Spastic Paraplegia, Optic Atrophy, and Dementia 10
514 SPN397 Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 10
515 DMN041 Dementia/parkinsonism with Non-Alzheimer Amyloid Plaques 10
516 MNT299 Mental and Growth Retardation with Amblyopia 10
517 c C9R002 C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia 10
518 OHD002 Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant 9
519 EPL197 Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation 9
520 ATS387 Autosomal Dominant Non-Syndromic Intellectual Disability 5 9
521 IND013 Indolylacroyl Glycinuria with Mental Retardation 9
522 SCR041 Sucrosuria, Hiatus Hernia and Mental Retardation 9
523 DSL004 Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 9
524 OHD001 Ohdo Syndrome, Maat-Kievit-Brunner Type 8
525 PSD115 Pseudouridinuria and Mental Defect 8
526 SYN091 Syndromic X-Linked Intellectual Disability Nascimento Type 8
527 c ATS394 Autosomal Dominant Mental Retardation 55 8
528 c ATS395 Autosomal Dominant Mental Retardation 61 8
529 c SYN077 Syndromic X-Linked Intellectual Disability 12 8
530 ATS383 Autosomal Dominant Non-Syndromic Intellectual Disability 1 7
531 ATS390 Autosomal Dominant Non-Syndromic Intellectual Disability 9 7
532 MCR344 Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 7
533 ATS384 Autosomal Dominant Non-Syndromic Intellectual Disability 2 6
534 ATS385 Autosomal Dominant Non-Syndromic Intellectual Disability 3 6
535 ATS386 Autosomal Dominant Non-Syndromic Intellectual Disability 4 6
536 c MCR282 Microcephaly and Chorioretinopathy 1 6
537 c MCR283 Microcephaly and Chorioretinopathy 2 6
538 c MCR284 Microcephaly and Chorioretinopathy 3 6
539 EMP013 Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation 6
540 FBR095 Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation 5
541 ANM047 Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/mental Retardation Syndrome 5
542 MNT314 Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 5
543 MCR342 Microcephaly, Macrotia, and Mental Retardation 5
544 SHR110 Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 5
545 PRK050 Parkinsonism with Dementia of Guadeloupe 4
546 c MCR048 Microcephaly Chorioretinopathy Recessive Form 4
547 c MCR059 Microcephaly with Chorioretinopathy, Autosomal Dominant Form 4
548 P CHR168 Chorioretinopathy Dominant Form Microcephaly 4
549 SYN094 Syndromic X-Linked Mental Retardation Hough Type 3
550 MNT020 Mental Retardation Macrocephaly Coarse Facies Hypotonia 3
551 P ATS364 Autism 70
552 APN008 Apnea, Obstructive Sleep 67
553 P SLP006 Sleep Apnea 66
554 P ATT013 Attention Deficit-Hyperactivity Disorder 66
555 P ALC004 Alcohol Abuse 63
556 c ATS007 Autism Spectrum Disorder 61
557 ETN001 Eating Disorder 61
558 TBC004 Tobacco Addiction 60
559 SLP005 Sleep Disorder 59
560 APH002 Aphasia 58
561 P SBS003 Substance Abuse 57
562 P PNC025 Panic Disorder 55
563 IMP005 Impotence 55
564 PRV006 Pervasive Developmental Disorder 55
565 TCD001 Tic Disorder 54
566 OPT003 Opiate Dependence 54
567 SCH012 Schizoaffective Disorder 54
568 CND002 Conduct Disorder 54
569 PST021 Postpartum Depression 53
570 GNR004 Generalized Anxiety Disorder 53
571 PTH002 Pathological Gambling 52
572 SPC010 Speech and Communication Disorders 52
573 CCN001 Cocaine Dependence 51
574 DRG003 Drug Dependence 51
575 END040 Endogenous Depression 50
576 SBS004 Substance Dependence 50
577 ANT011 Antisocial Personality Disorder 50
578 LRN003 Learning Disability 50
579 BRD004 Borderline Personality Disorder 49
580 CCN002 Cocaine Abuse 49
581 c CNT015 Central Sleep Apnea 49
582 SCL003 Social Phobia 48
583 OPP004 Oppositional Defiant Disorder 47
584 PRM003 Premature Ejaculation 47
585 SPC005 Speech Disorder 47
586 AGR002 Agoraphobia 46
587 GND002 Gender Identity Disorder 45
588 CHR056 Chronic Tic Disorder 44
589 AMN003 Amnestic Disorder 44
590 ALX001 Alexia 44
591 SXL003 Sexual Disorder 44
592 IMP006 Impulse Control Disorder 43
593 TRN007 Transsexualism 43
594 SCH003 Schizophreniform Disorder 43
595 MRP001 Morphine Dependence 43
596 MTS001 Mutism 42
597 BDY001 Body Dysmorphic Disorder 42
598 PHB001 Phobic Disorder 42
599 PNG002 Pain Agnosia 42
600 ALX002 Alexithymia 42
601 RMS001 Rem Sleep Behavior Disorder 42
602 INT025 Intermittent Explosive Disorder 42
603 OPD001 Opioid Abuse 42
604 DLY008 Delayed Sleep Phase Disorder 42
605 AVD001 Avoidant Personality Disorder 42
606 DYS009 Dysthymic Disorder 41
607 SMT001 Somatization Disorder 41
608 CNN001 Cannabis Dependence 41
609 DLS001 Delusional Disorder 41
610 PRD002 Periodic Limb Movement Disorder 41
611 ART002 Arts Syndrome 41
612 RTR001 Retrograde Amnesia 40
613 HRN003 Heroin Dependence 40
614 WTH001 Withdrawal Disorder 40
615 KLP001 Kleptomania 40
616 SPR012 Separation Anxiety Disorder 40
617 CNN002 Cannabis Abuse 40
618 HYP030 Hypoactive Sexual Desire Disorder 40
619 P DYS005 Dyslexia 39
620 STR015 Stereotypic Movement Disorder 39
621 NNT008 Neonatal Abstinence Syndrome 38
622 AGR018 Agraphia 38
623 MLN003 Melancholia 38
624 IDM001 Ideomotor Apraxia 38
625 ECH002 Echolalia 38
626 GTP001 Gait Apraxia 37
627 P HYP263 Hypersomnia 36
628 DVL001 Developmental Coordination Disorder 36
629 AMP007 Amphetamine Abuse 36
630 ADJ001 Adjustment Disorder 36
631 RDN001 Reading Disorder 36
632 NMN001 Nominal Aphasia 36
633 SCH011 Schizotypal Personality Disorder 36
634 PHB003 Phobia, Specific 35
635 DSS010 Dissociative Disorder 35
636 ACT084 Acute Stress Disorder 34
637 FCT008 Factitious Disorder 34
638 P PRS013 Prosopagnosia 34
639 ATY001 Atypical Depressive Disorder 34
640 DRG001 Drug Psychosis 33
641 EXH001 Exhibitionism 32
642 PDP001 Pedophilia 32
643 ART014 Articulation Disorder 31
644 ANT019 Anterograde Amnesia 31
645 P SPC019 Specific Language Impairment 31
646 PSY003 Psychosexual Disorder 30
647 DYS003 Dysgraphia 30
648 OBS003 Obsessive-Compulsive Personality Disorder 30
649 c RCR002 Recurrent Hypersomnia 29
650 TRN006 Transvestism 29
651 DPN001 Dependent Personality Disorder 29
652 DYS004 Dyscalculia 29
653 NSP004 Nosophobia 29
654 DSS002 Dissociative Amnesia 29
655 NRC003 Narcissistic Personality Disorder 29
656 SPC003 Specific Developmental Disorder 29
657 SCH004 Schizoid Personality Disorder 28
658 ANS006 Anosognosia 28
659 ATY003 Atypical Autism 28
660 CYC005 Cyclothymic Disorder 27
661 HST001 Histrionic Personality Disorder 27
662 SYN057 Syndromic Intellectual Disability 27
663 SBS005 Substance-Induced Psychosis 27
664 ALC003 Alcoholic Psychosis 26
665 FTS001 Fetishism 26
666 PCD001 Pica Disease 26
667 AMS001 Amusia 25
668 CPG001 Capgras Syndrome 24
669 PHN001 Phencyclidine Abuse 24
670 EXP001 Expressive Language Disorder 24
671 PRP015 Paraphilia Disorder 23
672 WRT002 Writing Disorder 23
673 HLL005 Hallucinogen Dependence 23
674 c CFF011 Coffin-Siris Syndrome 6 22
675 VYR001 Voyeurism 22
676 NNS031 Non-Syndromic Intellectual Disability 22
677 ADT001 Auditory Agnosia 22
678 c ATS370 Autism 3 21
679 c CFF006 Coffin-Siris Syndrome 5 21
680 c ALC016 Alcohol Sensitivity, Acute 21
681 c ATS369 Autism 8 20
682 c ATS371 Autism 6 19
683 c DYS121 Dyslexia 1 19
684 SBC016 Subacute Delirium 19
685 c DYS120 Dyslexia 2 19
686 c ATS173 Autism 18 19
687 MXD044 Mixed Sleep Apnea 18
688 ASS001 Associative Agnosia 18
689 c PRS058 Prosopagnosia, Hereditary 18
690 PHN002 Phonagnosia 18
691 PYR003 Pyromania 17
692 SXL001 Sexual Sadism 17
693 FNG001 Finger Agnosia 17
694 ANM002 Animal Phobia 17
695 c ATS368 Autism 5 17
696 VRB001 Verbal Auditory Agnosia 16
697 c SPC027 Specific Language Impairment 1 15
698 APP006 Apperceptive Agnosia 15
699 c FRM002 Form Agnosia 14
700 c ATS376 Autism 15 14
701 TCT002 Tactile Agnosia 14
702 FLY001 Flying Phobia 14
703 c PNC122 Panic Disorder 1 14
704 SXL002 Sexual Masochism 13
705 c SPC023 Specific Language Impairment 5 13
706 c SPC028 Specific Language Impairment 2 13
707 PSY001 Psychologic Vaginismus 13
708 BRB002 Barbiturate Dependence 13
709 c ATS377 Autism 16 13
710 c ATS378 Autism 17 12
711 AST004 Astereognosia 12
712 ATT001 Autotopagnosia 12
713 c ATS170 Autism 19 12
714 c DYS125 Dyslexia 8 12
715 c TSB001 T-Substance Anomaly 12
716 BST003 Bestiality 12
717 TRN005 Transient Tic Disorder 12
718 c ATT020 Attention Deficit-Hyperactivity Disorder 2 12
719 c ATS372 Autism 7 11
720 c ATS373 Autism 11 11
721 c ATS374 Autism 12 11
722 c ATS375 Autism 13 11
723 c ATT021 Attention Deficit-Hyperactivity Disorder 3 11
724 c ATS171 Autism 9 10
725 c PNC068 Panic Disorder 3 10
726 AKN001 Akinetopsia 10
727 INT031 Integrative Agnosia 10
728 c ATT022 Attention Deficit-Hyperactivity Disorder 4 10
729 c ATS172 Autism 10 10
730 c ATT019 Attention Deficit-Hyperactivity Disorder 1 9
731 c SPC029 Specific Language Impairment 3 9
732 c SPC015 Specific Language Impairment 4 9
733 c PNC070 Panic Disorder 2 8
734 ADS003 Aids Phobia 8
735 MXD002 Mixed Receptive-Expressive Language Disorder 8
736 BRB003 Barbiturate Abuse 8
737 TPG001 Topographical Agnosia 8
738 c DYS126 Dyslexia 9 8
739 c DYS122 Dyslexia 3 8
740 c DYS124 Dyslexia 6 8
741 c DYS123 Dyslexia 5 8
742 HLL002 Hallucinogen Abuse 7
743 PSY002 Psychologic Dyspareunia 7
744 MRR002 Mirror Agnosia 7
745 EGD001 Ego-Dystonic Sexual Orientation 6
746 SCL006 Social Emotional Agnosia 5
747 SMN003 Semantic Agnosia 4
748 ANT016 Antidepressant Type Abuse 4
749 TMG001 Time Agnosia 3
750 CLR009 Color Agnosia 3
751 MNT304 Mental Retardation, X-Linked, with or Without Seizures, Arx-Related 20
752 PTT059 Pettigrew Syndrome 41
753 MNT303 Mental Retardation, X-Linked, Syndromic, Cabezas Type 28
754 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 59
755 ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 46
756 P CRB185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 49
757 MSS001 Masa Syndrome 45
758 PRT052 Partington X-Linked Mental Retardation Syndrome 41
759 MNT309 Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 37
760 MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 34
761 c MNT301 Mental Retardation, X-Linked 21 24
762 P HRD021 Hereditary Sensory Neuropathy 48
763 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 37
764 c SNS009 Sensory Neuropathy Type 1 27
765 c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 23
766 CRP034 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 23
767 c NRP039 Neuropathy, Hereditary Sensory, Type Id 21
768 c NRP036 Neuropathy, Hereditary Sensory, Type if 21
769 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 20
770 CHR639 Chromosome Xp11.22 Duplication Syndrome 14
771 ALP095 Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 34
772 CRB151 Cerebral Creatine Deficiency Syndrome 1 50
773 P MWT001 Mowat-Wilson Syndrome 46
774 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 44
775 LBS001 Lubs X-Linked Mental Retardation Syndrome 41
776 c MWT002 Mowat-Wilson Syndrome Due to Monosomy 2q22 9
777 c MWT004 Mowat-Wilson Syndrome Due to a Zeb2 Point Mutation 7
778 c MNT187 Mental Retardation, X-Linked 49 22
779 c MNT305 Mental Retardation, X-Linked 12 20
780 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 53
781 WCK001 Wieacker-Wolff Syndrome 32
782 HSD004 Hsd10 Mitochondrial Disease 30
783 c MNT296 Mental Retardation, X-Linked, Syndromic 34 26
784 c MNT143 Mental Retardation, Autosomal Dominant 13 26
785 P CFF008 Coffin-Siris Syndrome 1 58
786 WDH003 Woodhouse-Sakati Syndrome 34
787 LJN003 Lujan-Fryns Syndrome 32
788 c MNT196 Mental Retardation, X-Linked 92 20
789 RLN001 Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 17
790 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 66
791 P CTS001 Cutis Laxa 62
792 c ATS393 Autosomal Recessive Cutis Laxa Type I 38
793 c CTS045 Cutis Laxa, Autosomal Dominant 1 37
794 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 37
795 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 36
796 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 33
797 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 31
798 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30
799 c HYP441 Hyperphosphatasia with Mental Retardation Syndrome 1 30
800 c ACQ027 Acquired Cutis Laxa 29
801 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 29
802 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 26
803 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 26
804 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
805 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 25
806 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 22
807 c CRB170 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 21
808 c ATP003 Atp6v0a2-Related Cutis Laxa 21
809 c CTS031 Cutis Laxa, Autosomal Dominant 2 21
810 c EFM001 Efemp2-Related Cutis Laxa 14
811 c LTB003 Ltbp4-Related Cutis Laxa 14
812 c FBL003 Fbln5-Related Cutis Laxa 8
813 GRS011 Gerstmann-Straussler Disease 48
814 MNT302 Mental Retardation, X-Linked, Syndromic, Christianson Type 29
815 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 25
816 CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 25
817 c HRD010 Hereditary Spastic Paraplegia 67
818 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 51
819 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 49
820 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 48
821 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 44
822 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 42
823 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 41
824 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 40
825 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 39
826 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 39
827 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 38
828 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 37
829 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 37
830 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 37
831 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 37
832 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 37
833 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 37
834 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 37
835 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 37
836 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
837 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 36
838 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 35
839 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 35
840 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
841 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 34
842 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 34
843 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 34
844 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 34
845 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 33
846 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 33
847 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 33
848 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 33
849 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 33
850 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 33
851 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 33
852 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 33
853 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 32
854 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 32
855 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 32
856 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 31
857 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 31
858 c SPS031 Spastic Paraplegia 23 31
859 P SPS012 Spastic Paraplegia 3a 30
860 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 30
861 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 29
862 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 28
863 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
864 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 28
865 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
866 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 27
867 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 27
868 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 27
869 c HRD186 Hereditary Spastic Paraplegia 51 27
870 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 26
871 c SPS021 Spastic Paraplegia 10 26
872 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 26
873 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 26
874 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 26
875 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 26
876 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 26
877 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 25
878 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 25
879 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 25
880 c SPS039 Spastic Paraplegia 5a 25
881 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 25
882 c SPS036 Spastic Paraplegia 3 23
883 c SPS025 Spastic Paraplegia 15 23
884 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 23
885 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 22
886 c SPS091 Spastic Paraplegia 4 21
887 NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 20
888 c SPS013 Spastic Paraplegia 8 20
889 c SPS020 Spastic Paraplegia 1 20
890 c HRD188 Hereditary Spastic Paraplegia 72 19
891 c SPS042 Spastic Paraplegia 9 19
892 c SPS037 Spastic Paraplegia 31 19
893 c SPS034 Spastic Paraplegia 26 18
894 c SPS027 Spastic Paraplegia 17 18
895 c SPS028 Spastic Paraplegia 18 17
896 c SPS041 Spastic Paraplegia 6 17
897 c SPS023 Spastic Paraplegia 13 17
898 c SPS080 Spastic Paraplegia 51 16
899 c SPS032 Spastic Paraplegia 24 15
900 c SPS033 Spastic Paraplegia 25 15
901 c SPS035 Spastic Paraplegia 29 15
902 c SPS022 Spastic Paraplegia 12 15
903 c SPS026 Spastic Paraplegia 16 14
904 c SPS161 Spastic Paraplegia 32 14
905 c SPS038 Spastic Paraplegia 39 14
906 c SPS029 Spastic Paraplegia 19 14
907 c SPS024 Spastic Paraplegia 14 12
908 c SPS040 Spastic Paraplegia 5b 11
909 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 11
910 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 11
911 c ATS186 Autosomal Recessive Spastic Paraplegia Type 68 11
912 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 11
913 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 11
914 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 11
915 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 11
916 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 11
917 GLL028 Gillespie Syndrome 33
918 FLP001 Filippi Syndrome 30
919 PRT055 Prieto X-Linked Mental Retardation Syndrome 29
920 WSM002 Waisman Syndrome 24
921 MNT254 Mental Retardation Syndrome, Mietens-Weber Type 22
922 XLN134 X-Linked Intellectual Disability, Siderius Type 19
923 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 19
924 DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 18
925 PCD002 Pcdh19-Related Female-Limited Epilepsy 16
926 P RTT002 Rett Syndrome 82
927 EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 44
928 c MNT210 Mental Retardation, Autosomal Recessive 42 25
929 c MNT295 Mental Retardation, X-Linked, Syndromic 33 25
930 c RTT008 Rett Syndrome, Congenital Variant 23
931 MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 22
932 c CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 22
933 WHT019 White-Sutton Syndrome 24
934 P GLY106 Glycosylphosphatidylinositol Biosynthesis Defect 11 18
935 P FNG006 Feingold Syndrome 1 45
936 c BRT038 Baraitser-Winter Syndrome 1 36
937 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 36
938 MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 29
939 c BRT039 Baraitser-Winter Syndrome 2 29
940 c CFF010 Coffin-Siris Syndrome 3 25
941 c CFF009 Coffin-Siris Syndrome 4 24
942 c CFF007 Coffin-Siris Syndrome 2 24
943 ALP094 Alpha Thalassemia-Intellectual Disability Syndrome Type 1 24
944 c FNG009 Feingold Syndrome 2 22
945 KHR001 Kahrizi Syndrome 22
946 ALP067 Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome 19
947 SCT004 Scott Bryant Graham Syndrome 17
948 EPL170 Epilepsy-Aphasia Spectrum 16
949 XLN197 X-Linked Intellectual Disability-Plagiocephaly Syndrome 16
950 SHL003 Shoulder Girdle Defect Mental Retardation Familial 14
951 ICH006 Ichthyosis Alopecia Eclabion Ectropion Mental Retardation 6
952 OPT054 Opitz-Kaveggia Syndrome 45
953 MYH012 Myhre Syndrome 41
954 c MNT270 Mental Retardation, Autosomal Recessive 53 25
955 P MNT198 Mental Retardation, X-Linked 98 23
956 c MNT262 Mental Retardation, Autosomal Dominant 42 23
957 MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 21
958 c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 20
959 DNT005 Dentatorubral-Pallidoluysian Atrophy 50
960 TMP011 Temple-Baraitser Syndrome 32
961 RNL120 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation 23
962 c MNT183 Mental Retardation, Autosomal Recessive 36 22
963 c MNT248 Mental Retardation, X-Linked 102 22
964 MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 21
965 c MNT325 Mental Retardation, Autosomal Recessive 61 21
966 MNT320 Mental Retardation, Autosomal Dominant 6, with or Without Seizures 19
967 c MNT224 Mental Retardation, X-Linked 101 19
968 MNT283 Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly 18
969 c MNT218 Mental Retardation, X-Linked 99 18
970 c MNT223 Mental Retardation, X-Linked 100 17
971 PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 16
972 c MNT294 Mental Retardation, X-Linked 106 16
973 MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 31
974 HMM004 Hamamy Syndrome 25
975 CRN268 Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis 25
976 SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 21
977 RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 21
978 MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 19
979 BLP010 Blepharophimosis Intellectual Disability Syndromes 17
980 ERL033 Early-Onset Parkinsonism-Intellectual Disability Syndrome 17
981 RDL026 Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome 17
982 ULN019 Ulna Hypoplasia-Intellectual Disability Syndrome 15
983 HYD054 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 13
984 STC008 Stocco Dos Santos Syndrome 10
985 DNM002 Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy 9
986 TRN026 Tranebjaerg Svejgaard Syndrome 9
987 INT288 Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome 8
988 AKS001 Akesson Syndrome 6
989 ALD006 Aldred Syndrome 6
990 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 60
991 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 60
992 c SPN294 Spinocerebellar Ataxia 1 58
993 P MCR010 Microcephaly 57
994 ALX003 Alexander Disease 57
995 P SPN301 Spinocerebellar Ataxia 2 56
996 c SPN291 Spinocerebellar Ataxia 7 53
997 c SPN309 Spinocerebellar Ataxia 6 49
998 c SPN293 Spinocerebellar Ataxia 12 48
999 c SPN314 Spinocerebellar Ataxia 10 47
1000 c SPN312 Spinocerebellar Ataxia 14 46
1001 c SPN296 Spinocerebellar Ataxia 17 46
1002 c SPN100 Spinocerebellar Ataxia 27 45
1003 NCL006 Nicolaides-Baraitser Syndrome 44
1004 c SPN305 Spinocerebellar Ataxia 11 43
1005 c SPN265 Spinocerebellar Ataxia 36 42
1006 c ATS275 Autosomal Recessive Primary Microcephaly 42
1007 c SPN290 Spinocerebellar Ataxia 15 40
1008 c SPN103 Spinocerebellar Ataxia 31 40
1009 c SPN106 Spinocerebellar Ataxia 5 40
1010 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40
1011 c SPN308 Spinocerebellar Ataxia 28 39
1012 c SPN304 Spinocerebellar Ataxia 8 38
1013 c SPN097 Spinocerebellar Ataxia 23 37
1014 PSD088 Pseudobulbar Affect 37
1015 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 37
1016 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 37
1017 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 36
1018 c SPN299 Spinocerebellar Ataxia 20 36
1019 c SPN094 Spinocerebellar Ataxia 18 36
1020 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 32
1021 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 32
1022 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 32
1023 c SPN266 Spinocerebellar Ataxia 35 32
1024 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 32
1025 c SPN101 Spinocerebellar Ataxia 29 32
1026 c SPN105 Spinocerebellar Ataxia 4 31
1027 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 31
1028 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 31
1029 c SPN095 Spinocerebellar Ataxia 19 31
1030 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 31
1031 c SPN099 Spinocerebellar Ataxia 26 31
1032 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 30
1033 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 30
1034 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 30
1035 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 30
1036 P MSC002 Muscular Dystrophy-Dystroglycanopathy 30
1037 c SPN104 Spinocerebellar Ataxia 34 29
1038 TMT002 Temtamy Preaxial Brachydactyly Syndrome 29
1039 c MCR329 Microcephaly, Autosomal Dominant 29
1040 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 29
1041 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 28
1042 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 28
1043 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 28
1044 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 28
1045 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 27
1046 c SPN383 Spinocerebellar Ataxia 42 27
1047 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
1048 c SPN098 Spinocerebellar Ataxia 25 27
1049 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 27
1050 c SPN247 Spinocerebellar Ataxia Type 19/22 27
1051 c SPN283 Spinocerebellar Ataxia 37 27
1052 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27
1053 c SPN284 Spinocerebellar Ataxia 38 27
1054 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 27
1055 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 26
1056 c SPN372 Spinocerebellar Ataxia 43 26
1057 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 26
1058 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 26
1059 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
1060 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 25
1061 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 25
1062 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 25
1063 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 25
1064 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 25
1065 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 25
1066 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 25
1067 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 24
1068 MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 24
1069 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24
1070 EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 24
1071 c SPN286 Spinocerebellar Ataxia 40 24
1072 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 23
1073 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 23
1074 c SPN323 Spinocerebellar Ataxia 41 23
1075 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 23
1076 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 22
1077 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 22
1078 c MCR320 Microcephaly 17, Primary, Autosomal Recessive 22
1079 c MCR269 Microcephaly 15, Primary, Autosomal Recessive 22
1080 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 22
1081 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 21
1082 c SPN259 Spinocerebellar Ataxia 32 21
1083 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 21
1084 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 21
1085 c SPN420 Spinocerebellar Ataxia 46 21
1086 c SPN419 Spinocerebellar Ataxia 45 20
1087 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 20
1088 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 20
1089 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 20
1090 c SPN418 Spinocerebellar Ataxia 44 20
1091 c MCR255 Microcephaly 9, Primary, Autosomal Recessive 20
1092 c SPN102 Spinocerebellar Ataxia 30 20
1093 c MCR238 Microcephaly 7, Primary, Autosomal Recessive 19
1094 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 19
1095 c SPN107 Spinocerebellar Ataxia 9 19
1096 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 19
1097 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 18
1098 c SPN421 Spinocerebellar Ataxia 47 17
1099 c MCR356 Microcephaly 19, Primary, Autosomal Recessive 17
1100 c SPN336 Spinocerebellar Ataxia Type 16 17
1101 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 15
1102 c MCR360 Microcephaly 20, Primary, Autosomal Recessive 15
1103 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 15
1104 c MCR362 Microcephaly 22, Primary, Autosomal Recessive 12
1105 c MCR361 Microcephaly 21, Primary, Autosomal Recessive 12
1106 c MCR363 Microcephaly 23, Primary, Autosomal Recessive 10
1107 c GRD008 Grid2-Related Spinocerebellar Ataxia 9
1108 MRT007 Martsolf Syndrome 41
1109 PRK087 Parkinson-Dementia Syndrome 29
1110 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 26
1111 FLY003 Flynn-Aird Syndrome 23
1112 MCD002 Mcdonough Syndrome 22
1113 MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 21
1114 c MNT275 Mental Retardation, Autosomal Recessive 60 20
1115 SKL011 Skeletal Defects, Genital Hypoplasia, and Mental Retardation 18
1116 c MNT271 Mental Retardation, X-Linked 61 18
1117 c MNT289 Mental Retardation, X-Linked 103 17
1118 PLT011 Pilotto Syndrome 16
1119 c MNT267 Mental Retardation, X-Linked 104 15
1120 ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 14
1121 c MNT274 Mental Retardation, X-Linked 105 14
1122 MNT028 Mental Retardation Smith Fineman Myers Type 14
1123 MLP003 Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type 12
1124 MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 7
1125 XLN132 X-Linked Intellectual Disability, Schimke Type 5
1126 P CNG411 Congenital Disorder of Glycosylation, Type in 62
1127 P FCS002 Fucosidosis 60
1128 c CNG415 Congenital Disorder of Glycosylation, Type Ia 52
1129 c MCR256 Microphthalmia, Syndromic 9 46
1130 c CNG412 Congenital Disorder of Glycosylation, Type Ii 46
1131 DBW001 Dubowitz Syndrome 43
1132 WDM004 Wiedemann-Steiner Syndrome 42
1133 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
1134 OLV002 Oliver Syndrome 41
1135 c MCR263 Microphthalmia, Syndromic 1 40
1136 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
1137 c MCR261 Microphthalmia, Syndromic 2 39
1138 P MCR241 Microphthalmia, Syndromic 3 38
1139 P MRN003 Marinesco-Sjogren Syndrome 37
1140 AYM001 Ayme-Gripp Syndrome 37
1141 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
1142 c CNG191 Congenital Disorder of Glycosylation, Type Iia 36
1143 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
1144 c CNG379 Congenital Disorder of Glycosylation, Type It 34
1145 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
1146 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
1147 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
1148 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
1149 c CNG200 Congenital Disorder of Glycosylation, Type Iq 30
1150 c MCR251 Microphthalmia, Syndromic 6 30
1151 SMT020 Smith-Kingsmore Syndrome 30
1152 c CNG188 Congenital Disorder of Glycosylation, Type if 30
1153 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
1154 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
1155 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
1156 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
1157 c CNG194 Congenital Disorder of Glycosylation, Type Ig 28
1158 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
1159 RMN002 Ramon Syndrome 28
1160 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
1161 c MCR245 Microphthalmia, Syndromic 8 27
1162 c CNG389 Congenital Disorder of Glycosylation, Type Iim 27
1163 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
1164 c CNG497 Congenital Disorder of Glycosylation, Type Iio 27
1165 c CNG383 Congenital Disorder of Glycosylation, Type Iik 26
1166 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
1167 c MCR252 Microphthalmia, Syndromic 5 26
1168 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
1169 BLB005 Beaulieu-Boycott-Innes Syndrome 26
1170 c CNG207 Congenital Disorder of Glycosylation, Type Io 26
1171 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
1172 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
1173 c CNG378 Congenital Disorder of Glycosylation, Type Ir 25
1174 c MCR212 Microphthalmia, Syndromic 12 25
1175 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
1176 c CNG504 Congenital Disorder of Glycosylation, Type Iip 25
1177 c CNG386 Congenital Disorder of Glycosylation, Type Iu 24
1178 CHR506 Choroideremia, Deafness, and Mental Retardation 24
1179 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
1180 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
1181 c MCR228 Microphthalmia, Syndromic 13 23
1182 PLL004 Pallister W Syndrome 23
1183 CLR029 Clark-Baraitser Syndrome 23
1184 c CNG193 Congenital Disorder of Glycosylation, Type Ip 23
1185 MGL027 Megalocornea-Intellectual Disability Syndrome 23
1186 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
1187 MTP004 Metaphyseal Acroscyphodysplasia 23
1188 c MCR262 Microphthalmia, Syndromic 4 23
1189 c CNG203 Congenital Disorder of Glycosylation, Type Iii 22
1190 P ALP068 Alopecia-Intellectual Disability Syndrome 22
1191 c MCR217 Microphthalmia, Syndromic 11 22
1192 HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 21
1193 LWR016 Lowry-Maclean Syndrome 21
1194 CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 21
1195 MCR052 Microcephaly Microcornea Syndrome Seemanova Type 21
1196 c PRK008 Parkinson Disease Type 9 20
1197 CRN267 Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation 20
1198 OCL043 Oculorenocerebellar Syndrome 20
1199 c MCR312 Microphthalmia, Syndromic 10 20
1200 5Q1001 5q14.3 Microdeletion Syndrome 19
1201 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 19
1202 c BMN004 Biemond Syndrome Ii 19
1203 DXT003 Dextrocardia with Unusual Facies and Microphthalmia 19
1204 LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 18
1205 UVL008 Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability 18
1206 MYT024 Myotonia with Skeletal Abnormalities and Mental Retardation 18
1207 EPL162 Epilepsy-Telangiectasia 17
1208 KZL006 Kozlowski-Krajewska Syndrome 17
1209 BRC089 Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome 17
1210 SHR089 Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome 17
1211 XLN128 X-Linked Intellectual Disability, Abidi Type 16
1212 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 16
1213 EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 15
1214 FTZ003 Fitzsimmons Syndrome 15
1215 PSS001 Passos-Bueno Syndrome 14
1216 SPS047 Spastic Paraplegia with Precocious Puberty 14
1217 WLM019 Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 14
1218 HRD179 Hair Defect-Photosensitivity-Intellectual Disability Syndrome 14
1219 P BMN001 Biemond Syndrome 14
1220 INT286 Intellectual Disability-Spasticity-Ectrodactyly Syndrome 14
1221 ZLT002 Zlotogora Syndrome 13
1222 PLN009 Palant Cleft Palate Syndrome 13
1223 DVR003 Devriendt Syndrome 13
1224 CMR005 Camera-Marugo-Cohen Syndrome 12
1225 c CSK002 Cask-Related Intellectual Disability 12
1226 LJN002 Lujan Syndrome 12
1227 c SYN073 Syngap1-Related Intellectual Disability 11
1228 TNK001 Tonoki Syndrome 10
1229 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 9
1230 c FCS008 Fucosidosis Type 1 8
1231 c PPP001 Ppp2r5d-Related Intellectual Disability 8
1232 c ALP081 Alopecia Intellectual Disability Syndrome 2 7
1233 c ATS360 Autosomal Recessive Intellectual Disability 58 7
1234 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 7
1235 CHD003 Chudley Rozdilsky Syndrome 7
1236 PSS002 Piussan Lenaerts Mathieu Syndrome 7
1237 WLK002 Walker Dyson Syndrome 7
1238 c TRR002 Trio-Related Intellectual Disability 7
1239 c WCR002 Wac-Related Intellectual Disability 7
1240 c SN3001 Sin3a-Related Intellectual Disability Syndrome 6
1241 P ATS403 Autosomal Dominant Intellectual Disability 40 6
1242 KRN006 Karandikar Maria Kamble Syndrome 6
1243 PFF002 Pfeiffer Kapferer Syndrome 6
1244 CRT027 Cartwright Nelson Fryns Syndrome 6
1245 KSZ002 Kosztolanyi Syndrome 6
1246 PFF003 Pfeiffer Mayer Syndrome 6
1247 SPS183 Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome 6
1248 ZRR001 Zerres Rietschel Majewski Syndrome 6
1249 ZZM001 Zazam Sheriff Phillips Syndrome 6
1250 c ATS348 Autosomal Dominant Intellectual Disability 30 6
1251 BDH001 Boudhina Yedes Khiari Syndrome 6
1252 RNL121 Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 6
1253 AMY096 Amyloidosis of Gingiva and Conjunctiva with Intellectual Disability 5
1254 CNT052 Cantalamessa Baldini Ambrosi Syndrome 5
1255 INT089 Intellectual Deficit - Short Stature - Hypertelorism 5
1256 KTS001 Katsantoni Papadakou Lagoyanni Syndrome 5
1257 KNR001 Koone Rizzo Elias Syndrome 5
1258 c MRN006 Marinesco-Sjogren-Like Syndrome 5
1259 CNT053 Cantu Sanchez-Corona Fragoso Syndrome 4
1260 FNG007 Feingold Trainer Syndrome 4
1261 DKR001 Duker Weiss Siber Syndrome 4
1262 MNT026 Mental Retardation Short Stature Microcephaly Eye 4
1263 HRD065 Hordnes Engebretsen Knudtson Syndrome 4
1264 KZL003 Kozlowski Ouvrier Syndrome 4
1265 MCR072 Microdontia Hypodontia Short Stature 4
1266 SNG001 Singh Chhaparwal Dhanda Syndrome 4
1267 c ACS002 Acsl4-Related Intellectual Disability 4
1268 c ARX002 Arx-Related Intellectual Disability 4
1269 c DDX001 Ddx3x-Related Intellectual Disability 4
1270 CNT055 Cantu Sanchez-Corona Hernandez Syndrome 3
1271 GRX001 Grix Blankenship Peterson Syndrome 3
1272 SMM001 Sammartino Decreccio Syndrome 3
1273 c BMN003 Biemond Syndrome Type 1 3
1274 ANX010 Anxiety 72
1275 OBS002 Obsessive-Compulsive Disorder 66
1276 ALC007 Alcohol Dependence 65
1277 GLL008 Gilles De La Tourette Syndrome 63
1278 P NRC002 Narcolepsy 63
1279 ANR007 Anorexia Nervosa 62
1280 c PNS012 Paine Syndrome 62
1281 PST028 Post-Traumatic Stress Disorder 58
1282 BLM002 Bulimia Nervosa 58
1283 STT041 Stuttering 53
1284 APR001 Apraxia 53
1285 P CHR345 Chronic Pain 51
1286 P ASP001 Asperger Syndrome 51
1287 BRX001 Bruxism 50
1288 P KLF001 Kleefstra Syndrome 46
1289 TRC010 Trichotillomania 46
1290 HYP016 Hypochondriasis 42
1291 NRT001 Neurotic Disorder 41
1292 RMN001 Rumination Disorder 41
1293 VSL003 Visual Agnosia 40
1294 TRN012 Transient Global Amnesia 40
1295 P KLN006 Koolen-De Vries Syndrome 39
1296 CNC001 Cancerophobia 37
1297 DPR002 Depersonalization Disorder 36
1298 VSC004 Vasculogenic Impotence 33
1299 ALC001 Alcohol-Related Birth Defect 32
1300 c KLF004 Kleefstra Syndrome 1 30
1301 MNC002 Munchausen by Proxy 29
1302 SML010 Simultanagnosia 28
1303 c CNT068 Central Pain Syndrome 24
1304 c NRC009 Narcolepsy 1 23
1305 PRT001 Partial Fetal Alcohol Syndrome 23
1306 ALC002 Alcohol-Related Neurodevelopmental Disorder 22
1307 ELC001 Elective Mutism 22
1308 CMB002 Combat Disorder 22
1309 CRT007 Cortical Deafness 20
1310 c ASP032 Asperger Syndrome 1 20
1311 CLT002 Cluttering 20
1312 c ADV003 Advanced Sleep Phase Syndrome, Familial, 1 20
1313 DPR015 Depersonalization/derealization Disorder 19
1314 c NRC017 Narcolepsy 7 18
1315 c ASP031 Asperger Syndrome 2 17
1316 c ADV007 Advanced Sleep Phase Syndrome, Familial, 2 17
1317 c NRC011 Narcolepsy 3 16
1318 c ADV006 Advanced Sleep Phase Syndrome, Familial, 3 16
1319 c KLF005 Kleefstra Syndrome 2 15
1320 c KLF002 Kleefstra Syndrome Due to a Point Mutation 13
1321 c NRC010 Narcolepsy 2 12
1322 c NRC012 Narcolepsy 4 12
1323 c ASP033 Asperger Syndrome 3 12
1324 c NRC013 Narcolepsy 5 11
1325 c ASP034 Asperger Syndrome 4 11
1326 c NRC018 Narcolepsy 6 10
1327 c ADV008 Advanced Sleep Phase Syndrome 2 9
1328 VSL001 Visual Verbal Agnosia 9
1329 c KLN007 Koolen-De Vries Syndrome Due to a Point Mutation 6
1330 FTL063 Fetal Nicotine Spectrum Disorder 3
1331 P FRG001 Fragile X Syndrome 69
1332 c FRG004 Fragile X Syndrome Type 1 4
1333 c FRG005 Fragile X Syndrome Type 2 4
1334 c FRG006 Fragile X Syndrome Type 3 4
1335 CWC001 Cowchock Syndrome 37
1336 MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 22
1337 PLY082 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 42
1338 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 41
1339 OLV004 Oliver-Mcfarlane Syndrome 32
1340 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 59
1341 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 48
1342 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 46
1343 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 31
1344 MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 31
1345 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 31
1346 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 27
1347 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 27
1348 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 26
1349 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 24
1350 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 23
1351 KBG001 Kbg Syndrome 52
1352 CHR174 Christianson Syndrome 39
1353 PCK003 Pick Disease of Brain 65
1354 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 49
1355 P BRT040 Baraitser-Winter Syndrome 35
1356 CRP036 Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome 18
1357 DND017 Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures 14
1358 CRT072 Creutzfeldt-Jakob Disease 65
1359 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 54
1360 P PTT014 Pitt-Hopkins Syndrome 51
1361 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 49
1362 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28
1363 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 27
1364 c PTT029 Pitt-Hopkins-Like Syndrome 1 26
1365 c PTT030 Pitt-Hopkins-Like Syndrome 2 24
1366 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 24
1367 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 20
1368 c PTT042 Pitt-Hopkins-Like Syndrome 15
1369 INS024 Insulin-Like Growth Factor I 82
1370 ACR008 Acrocallosal Syndrome 57
1371 c SPN311 Spinocerebellar Ataxia 13 44
1372 KFM001 Kaufman Oculocerebrofacial Syndrome 36
1373 c CHR630 Chorea, Benign Hereditary 34
1374 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 29
1375 RCH002 Richards-Rundle Syndrome 29
1376 OPT062 Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures 17
1377 P CHR636 Chorea, Benign Familial 11
1378 CFF002 Coffin-Lowry Syndrome 57
1379 PRR007 Perry Syndrome 50
1380 c SPS092 Spastic Paraplegia 11 26
1381 CRD019 Cardiocranial Syndrome 12
1382 INT090 Intellectual Deficit Buenos-Aires Type 10
1383 LBN005 Lubani-Al Saleh-Teebi Syndrome 7
1384 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 56
1385 P SJG002 Sjogren-Larsson Syndrome 51
1386 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 37
1387 TMT003 Temtamy Syndrome 31
1388 c SJG003 Sjogren-Larsson-Like Syndrome 6
1389 LSC001 Lesch-Nyhan Syndrome 62
1390 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 31
1391 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 64
1392 NTH001 Netherton Syndrome 60
1393 P SMP003 Simpson-Golabi-Behmel Syndrome 55
1394 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 41
1395 SLT014 Salt and Pepper Developmental Regression Syndrome 37
1396 LNZ003 Lenz-Majewski Hyperostotic Dwarfism 34
1397 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 33
1398 c SPN096 Spinocerebellar Ataxia 21 30
1399 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 28
1400 MD2001 Med23 27
1401 GRR002 Gurrieri Syndrome 25
1402 MCR066 Microcephaly-Cardiomyopathy 23
1403 XLN162 X-Linked Intellectual Disability, Najm Type 21
1404 MCR305 Microcephaly with Cervical Spine Fusion Anomalies 21
1405 MCR306 Microcephaly-Deafness Syndrome 19
1406 OST149 Osteolysis Syndrome, Recessive 19
1407 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 18
1408 NRP046 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers 18
1409 OST047 Osteopenia and Sparse Hair 17
1410 ART113 Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability 17
1411 ADN078 Adnp Syndrome 15
1412 KFF001 Kifafa Seizure Disorder 15
1413 VND003 Van Den Bosch Syndrome 14
1414 HNT009 Hunter-Mcalpine Syndrome 13
1415 STB003 Setbp1 Disorder 10
1416 CDL001 Caudal Appendage Deafness 10
1417 RRD001 Reardon Wilson Cavanagh Syndrome 10
1418 SYN070 Syngap1-Related Non-Syndromic Intellectual Disability 10
1419 INT273 Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 10
1420 c HVP001 Hivep2-Related Intellectual Disability 9
1421 BTT012 Battaglia-Neri Syndrome 8
1422 WDM002 Wiedemann Oldigs Oppermann Syndrome 6
1423 KZN001 Kuzniecky Andermann Syndrome 5
1424 XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 4
1425 VSC007 Vascular Disease 68
1426 P AGN002 Agnosia 61
1427 P FTL001 Fetal Alcohol Syndrome 59
1428 KLN009 Kleine-Levin Hibernation Syndrome 48
1429 CNV002 Conversion Disorder 42
1430 KLV001 Kluver-Bucy Syndrome 41
1431 P ADV001 Advanced Sleep Phase Syndrome 36
1432 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 55
1433 LKN025 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 52
1434 c AMY091 Amyotrophic Lateral Sclerosis 1 89
1435 ENC039 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 42
1436 GNT031 Genitopatellar Syndrome 41
1437 BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 26
1438 c WRB002 Warburg Micro Syndrome 1 42
1439 c WRB005 Warburg Micro Syndrome 4 37
1440 BHR001 Behr Syndrome 36
1441 c WRB003 Warburg Micro Syndrome 2 33
1442 P WRB001 Warburg Micro Syndrome 32
1443 c WRB004 Warburg Micro Syndrome 3 23
1444 c DFN036 Deafness, X-Linked 2 35
1445 MMS001 Momo Syndrome 30
1446 c DFN105 Deafness, X-Linked 5 25
1447 c DFN276 Deafness, X-Linked 6 20
1448 c DFN147 Deafness, X-Linked 4 20
1449 P XLN004 X-Linked Nonsyndromic Deafness 18
1450 c DFN194 Deafness, X-Linked 1 18
1451 c DFN146 Deafness, X-Linked 3 16
1452 c DFN186 Deafness, Y-Linked 1 14
1453 P ORT004 Orthostatic Intolerance 68
1454 WVR001 Weaver Syndrome 61
1455 P TRC102 Trichothiodystrophy 1, Photosensitive 51
1456 WYB001 Wyburn Mason's Syndrome 27
1457 ZTT001 Zttk Syndrome 25
1458 c TRC100 Trichothiodystrophy 3, Photosensitive 20
1459 FKY002 Fukuyama Type Muscular Dystrophy 20
1460 c CHR344 Chronic Orthostatic Intolerance 18
1461 c TRC099 Trichothiodystrophy 2, Photosensitive 17
1462 2Q3001 2q37 Deletion Syndrome 15
1463 RMS002 Ramos Arroyo Clark Syndrome 9
1464 c FTL006 Fetal Alcohol Spectrum Disorder 48



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