Mental Diseases Category (1406 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 FRN006 Frontotemporal Dementia 70
3 DMN031 Dementia, Lewy Body 66
4 RNP003 Renpenning Syndrome 1 53
5 P MNT135 Mental Retardation, X-Linked, Syndromic 13 36
6 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 35
7 GRN014 Grn-Related Frontotemporal Dementia 34
8 P CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 36
9 FRN051 Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related 42
10 VSC002 Vascular Dementia 58
11 P FRN044 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 42
12 AMY027 Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 31
13 FRN030 Frontotemporal Dementia with Parkinsonism-17 22
14 CHM002 Chmp2b-Related Frontotemporal Dementia 17
15 P ALZ034 Alzheimer Disease 95
16 c ALZ049 Alzheimer Disease 2 59
17 c ALZ050 Alzheimer Disease 5 44
18 c ALZ054 Alzheimer Disease 4 43
19 c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 42
20 c ALZ056 Alzheimer Disease 3 41
21 c ERL006 Early-Onset Familial Alzheimer Disease 38
22 c ALZ062 Alzheimer Disease 19 26
23 c ALZ045 Alzheimer Disease 9 22
24 c ALZ015 Alzheimer Disease 6 22
25 c ALZ016 Alzheimer Disease 8 22
26 c ALZ057 Alzheimer Disease 10 21
27 c ALZ053 Alzheimer Disease 7 21
28 c ALZ012 Alzheimer Disease 12 20
29 c ALZ058 Alzheimer Disease 11 19
30 c ALZ059 Alzheimer Disease 13 17
31 c ALZ060 Alzheimer Disease 14 17
32 c ALZ032 Alzheimer Disease 18 16
33 c ALZ031 Alzheimer Disease 17 15
34 c ALZ002 Alzheimer Disease Type 1 15
35 c ALZ014 Alzheimer Disease 16 15
36 c ALZ061 Alzheimer Disease 15 15
37 SMN008 Semantic Dementia 41
38 MNT056 Mental Retardation, X-Linked, Syndromic, Nascimento Type 25
39 c HYP553 Hyperphosphatasia with Mental Retardation Syndrome 3 21
40 BRJ001 Borjeson-Forssman-Lehmann Syndrome 54
41 RTN207 Retinopathy, Pigmentary, and Mental Retardation 19
42 ALP025 Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 10
43 DMN002 Dementia 68
44 DSS008 Disease of Mental Health 51
45 MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 28
46 MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 25
47 KHL003 Kohlschutter-Tonz Syndrome 37
48 SPN350 Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration 20
49 SYN092 Syndromic X-Linked Intellectual Disability Cabezas Type 17
50 PRN009 Paranoid Schizophrenia 49
51 MNT310 Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 32
52 MDD011 Mood Disorder 64
53 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia 33
54 c MNT200 Mental Retardation, X-Linked 97 19
55 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 67
56 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 49
57 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 49
58 P INF016 Infantile Epileptic Encephalopathy 43
59 BNS003 Binswanger's Disease 43
60 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 41
61 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 36
62 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 35
63 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 34
64 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 32
65 SYN089 Syndromic X-Linked Intellectual Disability Snyder Type 32
66 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 30
67 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 27
68 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 26
69 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 26
70 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 25
71 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 24
72 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 24
73 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 24
74 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 22
75 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 22
76 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 22
77 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 21
78 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 21
79 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 21
80 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 21
81 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 21
82 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 21
83 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 21
84 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 21
85 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 21
86 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 21
87 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 21
88 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21
89 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 21
90 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 20
91 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 20
92 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 20
93 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 20
94 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 20
95 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 20
96 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 20
97 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 20
98 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 20
99 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 20
100 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 20
101 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 19
102 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 19
103 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 19
104 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 19
105 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 19
106 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 19
107 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 18
108 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 18
109 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 18
110 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 17
111 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 16
112 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 14
113 MNT307 Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 24
114 P MNT319 Mental Retardation, Autosomal Dominant 20 28
115 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 24
116 DRM023 Dermoodontodysplasia 22
117 STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 22
118 c MNT155 Mental Retardation, Autosomal Recessive 2 20
119 MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 19
120 DMN012 Dementia - Subcortical 10
121 P SCH015 Schizophrenia 71
122 c ERL020 Early-Onset Schizophrenia 51
123 c SCH079 Schizophrenia 1 45
124 ADS004 Aids Dementia Complex 42
125 P ATS366 Autism X-Linked 2 34
126 c SCH082 Schizophrenia 5 25
127 ARM006 Armfield X-Linked Mental Retardation Syndrome 21
128 c ATS268 Autism X-Linked 4 21
129 c SCH085 Schizophrenia 2 21
130 c ATS367 Autism X-Linked 3 20
131 c ATS365 Autism X-Linked 1 20
132 c SCH080 Schizophrenia 3 19
133 c ATS358 Autism X-Linked 6 19
134 c SCH051 Schizophrenia 4 18
135 c SCH064 Schizophrenia 10 17
136 c SCH081 Schizophrenia 6 17
137 CTR173 Cataract, Ataxia, Short Stature, and Mental Retardation 16
138 c SCH056 Schizophrenia 15 14
139 c SCH045 Schizophrenia 12 14
140 c SCH087 Schizophrenia 18 14
141 c SCH075 Schizophrenia 19 13
142 c SCH052 Schizophrenia 14 13
143 c SCH073 Schizophrenia 9 13
144 c ATS177 Autism X-Linked 5 13
145 c SCH053 Schizophrenia 13 12
146 c SCH084 Schizophrenia 8 12
147 c SCH061 Schizophrenia 16 12
148 c SCH086 Schizophrenia 11 12
149 c SCH083 Schizophrenia 7 12
150 PRS056 Presenile Dementia, Kraepelin Type 11
151 SYN083 Syndromic X-Linked Intellectual Disability Shashi Type 9
152 PSY004 Psychotic Disorder 72
153 P MJR001 Major Depressive Disorder 70
154 FRN013 Frontotemporal Dementia, Chromosome 3-Linked 33
155 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 32
156 c CRB195 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 19
157 c MJR013 Major Depressive Disorder 1 14
158 c MJR014 Major Depressive Disorder 2 12
159 BRK009 Birk-Barel Mental Retardation Dysmorphism Syndrome 33
160 P SPN202 Spinocerebellar Ataxia, X-Linked 1 27
161 c SPN364 Spinocerebellar Ataxia, X-Linked 3 23
162 MNT058 Mental Retardation, X-Linked, Syndromic, Turner Type 21
163 MNT057 Mental Retardation, X-Linked, Syndromic, Raymond Type 18
164 c SPN363 Spinocerebellar Ataxia, X-Linked 4 18
165 c SPN203 Spinocerebellar Ataxia, X-Linked 5 17
166 c SPN403 Spinocerebellar Ataxia, X-Linked 2 15
167 AMY102 Amyotrophic Lateral Sclerosis, Juvenile, with Dementia 13
168 KFR001 Kufor-Rakeb Syndrome 42
169 AMY106 Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia 37
170 c MJR008 Major Affective Disorder 2 33
171 c MJR007 Major Affective Disorder 1 33
172 P MJR004 Major Affective Disorder 4 29
173 MLS013 Miles-Carpenter Syndrome 28
174 c MJR003 Major Affective Disorder 6 28
175 c MJR006 Major Affective Disorder 5 25
176 BRK011 Brooks-Wisniewski-Brown Syndrome 25
177 HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 25
178 c MNT191 Mental Retardation, X-Linked, Syndromic 17 22
179 MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 20
180 ALP067 Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome 19
181 MNT257 Mental Retardation, X-Linked, with Craniofacial Dysmorphism 17
182 FLL034 Fallot Complex with Severe Mental and Growth Retardation 17
183 ABD008 Abidi X-Linked Mental Retardation Syndrome 17
184 CRN293 Craniosynostosis-Mental Retardation-Clefting Syndrome 16
185 XLN023 X-Linked Mental Retardation Craniofacial Abnormal Microcephaly Club 11
186 ORG003 Organic Mood Syndrome 11
187 SYN081 Syndromic X-Linked Intellectual Disability Abidi Type 11
188 SYN090 Syndromic X-Linked Intellectual Disability Turner Type 10
189 THM007 Thumb Stiff Brachydactyly Mental Retardation 4
190 c RBN021 Rubinstein-Taybi Syndrome 1 50
191 c BPL002 Bipolar I Disorder 50
192 SCH074 Schuurs-Hoeijmakers Syndrome 25
193 c RBN008 Rubinstein-Taybi Syndrome 2 25
194 PRN010 Paranoid Personality Disorder 22
195 DMN026 Dementia Pugilistica 22
196 c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 19
197 AMY107 Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia 19
198 P RBN007 Rubinstein Taybi Like Syndrome 6
199 PRN023 Prion Disease 51
200 CHR543 Chromosome 2q37 Deletion Syndrome 34
201 c MJR023 Major Affective Disorder 7 32
202 OHD003 Ohdo Syndrome, X-Linked 23
203 INC031 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 23
204 c MNT321 Mental Retardation, Autosomal Recessive 37 22
205 c MNT150 Mental Retardation, Autosomal Recessive 15 22
206 c MNT207 Mental Retardation, X-Linked, Syndromic 32 21
207 AMY104 Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia 21
208 AMY105 Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia 21
209 XGB001 Xia-Gibbs Syndrome 19
210 c MNT154 Mental Retardation, Autosomal Recessive 14 19
211 c MNT264 Mental Retardation, Autosomal Recessive 52 18
212 c MNT151 Mental Retardation, Autosomal Recessive 18 17
213 AMY099 Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia 17
214 AMM001 Amme Complex 16
215 MNT107 Mental Retardation, Fra12a Type 15
216 P PRS038 Personality Disorder 65
217 c AMY090 Amyotrophic Lateral Sclerosis 8 43
218 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 42
219 CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 42
220 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 42
221 OHD004 Ohdo Syndrome 41
222 c AMY069 Amyotrophic Lateral Sclerosis 21 39
223 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 39
224 c AMY067 Amyotrophic Lateral Sclerosis 18 38
225 c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 37
226 CRB193 Cerebral Amyloid Angiopathy, App-Related 36
227 c AMY088 Amyotrophic Lateral Sclerosis 3 35
228 c MLT010 Multiple Personality Disorder 34
229 c AMY085 Amyotrophic Lateral Sclerosis 9 33
230 CHL012 Childhood Disintegrative Disease 33
231 c AMY059 Amyotrophic Lateral Sclerosis 19 32
232 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 31
233 c MJR024 Major Affective Disorder 9 31
234 c AMY083 Amyotrophic Lateral Sclerosis 11 31
235 c MJR022 Major Affective Disorder 8 31
236 ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 29
237 c AMY074 Amyotrophic Lateral Sclerosis Type 14 27
238 c AMY089 Amyotrophic Lateral Sclerosis 7 27
239 CKS001 Ck Syndrome 27
240 c AMY063 Amyotrophic Lateral Sclerosis 20 25
241 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 24
242 c AMY055 Amyotrophic Lateral Sclerosis 17 24
243 HLS003 Helsmoortel-Van Der Aa Syndrome 24
244 c AMY062 Amyotrophic Lateral Sclerosis 12 24
245 c AMY022 Amyotrophic Lateral Sclerosis Type 5 23
246 ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 23
247 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 23
248 HLL013 Hall-Riggs Mental Retardation Syndrome 22
249 RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 21
250 GMS002 Gms Syndrome 20
251 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 20
252 BLP044 Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 20
253 c MNT204 Mental Retardation, X-Linked 23 17
254 WLF012 Wolff Mental Retardation Syndrome 17
255 PTR031 Pterygium Colli and Mental Retardation with Facial and Digital Anomalies 17
256 ULN022 Ulnar Hypoplasia with Mental Retardation 16
257 LMB066 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 16
258 c MNT202 Mental Retardation, X-Linked 53 16
259 SPN347 Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 15
260 SPS218 Spastic Diplegia and Mental Retardation 15
261 SCH022 Schimke X-Linked Mental Retardation Syndrome 15
262 HYP183 Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features 15
263 P MNT312 Mental Health Wellness 1 15
264 c AMY108 Amyotrophic Lateral Sclerosis 23 13
265 c MJR021 Major Affective Disorder 3 12
266 MNT311 Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration 11
267 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 11
268 c GLY103 Glycosylphosphatidylinositol Biosynthesis Defect 15 10
269 KCN019 Kcnk9 Imprinting Syndrome 10
270 SYN093 Syndromic X-Linked Intellectual Disability Raymond Type 9
271 P GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 9
272 c MNT313 Mental Health Wellness 2 7
273 CTS013 Cutis Verticis Gyrata Mental Deficiency 7
274 PTR009 Pterygium Colli Mental Retardation Digital Anomalies 5
275 CRN100 Craniosynostosis Mental Retardation Heart Defects 3
276 CNG099 Congenital Heart Disease Radio Ulnar Synostosis Mental Retardation 3
277 PRT057 Proteus Like Syndrome Mental Retardation Eye Defect 3
278 LKM007 Leukomelanoderma Mental Redardation Hypotrichosis 3
279 SZR004 Seizures Mental Retardation Hair Dysplasia 3
280 EPL007 Epilepsy Mental Deterioration Finnish Type 3
281 CRN064 Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation 3
282 ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53
283 c MNT158 Mental Retardation, Autosomal Dominant 22 25
284 c MNT157 Mental Retardation, Autosomal Dominant 18 24
285 c FRN043 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 24
286 c FRN045 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 22
287 c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 22
288 c MNT273 Mental Retardation, Autosomal Dominant 44 21
289 c FRN040 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 21
290 c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 21
291 FGS004 Fg Syndrome 4 20
292 HYP646 Hypomagnesemia, Seizures, and Mental Retardation 17
293 SBN004 Sabinas Brittle Hair Syndrome 15
294 P PRK057 Parkinson Disease, Late-Onset 78
295 CLF027 Cleft Palate, Isolated 61
296 MNT002 Mental Depression 60
297 SMT006 Somatoform Disorder 55
298 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 54
299 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 49
300 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 44
301 c PRK090 Parkinson Disease 3, Autosomal Dominant 37
302 c ERL047 Early-Onset Parkinson Disease 36
303 c PRK025 Parkinson Disease 10 33
304 c PRK085 Parkinson Disease 1, Autosomal Dominant 31
305 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 30
306 c PRK093 Parkinson Disease 8, Autosomal Dominant 30
307 c PRK071 Parkinson Disease 14, Autosomal Recessive 29
308 ART103 Arthrogryposis, Mental Retardation, and Seizures 26
309 c MNT185 Mental Retardation, Autosomal Dominant 7 26
310 c HRD173 Hereditary Late-Onset Parkinson Disease 26
311 RCH010 Richieri-Costa/guion-Almeida Syndrome 26
312 c MNT212 Mental Retardation, Autosomal Dominant 26 26
313 JWD001 Jawad Syndrome 25
314 c PRK065 Parkinson Disease 20, Early-Onset 25
315 c PRK081 Parkinson Disease 19a, Juvenile-Onset 24
316 c MNT145 Mental Retardation, Autosomal Recessive 5 24
317 c MNT280 Mental Retardation, Autosomal Dominant 43 24
318 c PRK052 Parkinson Disease 17 23
319 c MNT246 Mental Retardation, Autosomal Dominant 38 23
320 c MNT241 Mental Retardation, Autosomal Dominant 32 23
321 INC015 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 23
322 c MNT298 Mental Retardation, X-Linked, Syndromic, 35 23
323 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 23
324 c MNT214 Mental Retardation, Autosomal Dominant 24 22
325 CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 22
326 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 22
327 c PRK091 Parkinson Disease 4, Autosomal Dominant 22
328 c MNT176 Mental Retardation, Autosomal Recessive 38 22
329 c MNT322 Mental Retardation, Autosomal Dominant 27 22
330 c PRK094 Parkinson Disease 11, Autosomal Dominant 22
331 c MNT226 Mental Retardation, Autosomal Dominant 31 22
332 c MNT213 Mental Retardation, Autosomal Recessive 40 22
333 c PRK070 Parkinson Disease 21 22
334 c MNT242 Mental Retardation, Autosomal Dominant 40 22
335 SFR001 Sifrim-Hitz-Weiss Syndrome 22
336 c PRK099 Parkinson Disease 18, Autosomal Dominant 21
337 c MNT166 Mental Retardation, Autosomal Recessive 39 21
338 c MNT222 Mental Retardation, Autosomal Dominant 29 21
339 c MNT221 Mental Retardation, Autosomal Recessive 44 21
340 c MNT234 Mental Retardation, Autosomal Recessive 48 21
341 c PRK096 Parkinson Disease 13, Autosomal Dominant 21
342 c MNT216 Mental Retardation, Autosomal Recessive 41 21
343 c MNT285 Mental Retardation, Autosomal Recessive 58 21
344 c MNT211 Mental Retardation, Autosomal Dominant 23 21
345 c MNT159 Mental Retardation, Autosomal Dominant 19 20
346 c MNT238 Mental Retardation, Autosomal Dominant 34 20
347 c MNT197 Mental Retardation, X-Linked, Syndromic 9 20
348 c MNT219 Mental Retardation, Autosomal Dominant 30 20
349 c MNT287 Mental Retardation, Autosomal Recessive 57 20
350 c MNT227 Mental Retardation, Autosomal Recessive 46 20
351 c MNT244 Mental Retardation, Autosomal Recessive 49 20
352 c MNT177 Mental Retardation, Autosomal Recessive 27 20
353 c MNT282 Mental Retardation, Autosomal Recessive 55 20
354 c MNT239 Mental Retardation, Autosomal Dominant 35 20
355 CLF050 Cleft Palate, Cardiac Defects, and Mental Retardation 20
356 c MNT179 Mental Retardation, Autosomal Dominant 21 20
357 c MNT236 Mental Retardation, Autosomal Dominant 39 19
358 c MNT245 Mental Retardation, Autosomal Dominant 36 19
359 c MNT220 Mental Retardation, Autosomal Recessive 45 19
360 CRB158 Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 19
361 c MNT240 Mental Retardation, Autosomal Dominant 33 19
362 c MNT225 Mental Retardation, Autosomal Recessive 47 19
363 c MNT215 Mental Retardation, Autosomal Recessive 43 19
364 c MNT263 Mental Retardation, Autosomal Recessive 51 18
365 c JVN052 Juvenile-Onset Parkinson Disease 18
366 c MNT277 Mental Retardation, Autosomal Recessive 54 18
367 c MNT272 Mental Retardation, Autosomal Dominant 41 18
368 c MNT281 Mental Retardation, Autosomal Recessive 59 17
369 c MNT279 Mental Retardation, Autosomal Dominant 47 17
370 c PRK058 Parkinson Disease 16 17
371 c MNT286 Mental Retardation, Autosomal Dominant 45 17
372 MNT118 Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 17
373 c MNT243 Mental Retardation, Autosomal Recessive 50 17
374 c MNT284 Mental Retardation, Autosomal Recessive 56 17
375 c PRK022 Parkinson Disease 12 16
376 P ALP076 Alopecia-Mental Retardation Syndrome 1 16
377 c MNT278 Mental Retardation, Autosomal Dominant 46 16
378 c MNT186 Mental Retardation, Autosomal Dominant 10 16
379 c MNT184 Mental Retardation, Autosomal Dominant 11 16
380 c PRK098 Parkinson Disease 5, Autosomal Dominant 16
381 c MNT195 Mental Retardation, X-Linked 96 15
382 c PRK083 Parkinson Disease 22, Autosomal Dominant 14
383 MNT306 Mental Retardation, X-Linked, Syndromic, Houge Type 10
384 c BPL001 Bipolar Ll Disorder 5
385 P OLV001 Olivopontocerebellar Atrophy 51
386 BHV002 Behavioral Variant of Frontotemporal Dementia 41
387 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 33
388 CLB026 Colobomatous Microphthalmia 31
389 MGL033 Megalocornea-Mental Retardation Syndrome 28
390 DRG004 Drug-Induced Mental Disorder 26
391 P SYN064 Syndromic X-Linked Intellectual Disability 25
392 c SYN078 Syndromic X-Linked Intellectual Disability Type 10 25
393 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 24
394 c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 24
395 ALC013 Alcohol-Induced Mental Disorder 23
396 c MNT181 Mental Retardation, Autosomal Recessive 35 22
397 ALP085 Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 21
398 MNT256 Mental Retardation, Buenos Aires Type 21
399 c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 21
400 SYN079 Syndromic X-Linked Intellectual Disability Siderius Type 21
401 SPN368 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 21
402 SPS226 Spastic Paraplegia, Ataxia, and Mental Retardation 20
403 MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 20
404 NNS032 Non-Syndromic X-Linked Intellectual Disability 20
405 c SYN056 Syndromic X-Linked Intellectual Disability 7 20
406 KNN010 Kennerknecht Syndrome 19
407 c MNT162 Mental Retardation, Autosomal Recessive 24 19
408 PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 19
409 c MNT163 Mental Retardation, Autosomal Recessive 30 19
410 CHR397 Chromosome Xp11.3 Deletion Syndrome 19
411 c MNT172 Mental Retardation, Autosomal Recessive 25 18
412 HYP688 Hypospadias-Mental Retardation Syndrome 18
413 c MNT167 Mental Retardation, Autosomal Recessive 16 18
414 MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 18
415 c MNT165 Mental Retardation, Autosomal Recessive 28 18
416 c MCR272 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 18
417 ARL006 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 18
418 c MNT180 Mental Retardation, Autosomal Recessive 33 18
419 SPN344 Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 18
420 BRC121 Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation 18
421 CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 18
422 c MNT182 Mental Retardation, Autosomal Recessive 19 18
423 RSS027 Russell-Silver Syndrome, X-Linked 17
424 DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 17
425 c MNT170 Mental Retardation, Autosomal Recessive 23 17
426 MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 17
427 CHM001 Cahmr Syndrome 17
428 c MNT161 Mental Retardation, Autosomal Recessive 29 17
429 c MNT247 Mental Retardation, X-Linked 73 16
430 ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 16
431 c MNT328 Mental Retardation, Autosomal Dominant 52 16
432 c MNT160 Mental Retardation, Autosomal Recessive 31 16
433 c MNT194 Mental Retardation, X-Linked 50 16
434 c MNT324 Mental Retardation, Autosomal Dominant 49 16
435 c AMY079 Amyotrophic Lateral Sclerosis Type 15 16
436 ECT104 Ectodermal Dysplasia with Mental Retardation and Syndactyly 16
437 HRD035 Hair Defect with Photosensitivity and Mental Retardation 16
438 ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 16
439 ART029 Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 16
440 GRW038 Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 16
441 MNT030 Mental Retardation Syndrome, Belgian Type 16
442 c MNT323 Mental Retardation, Autosomal Dominant 48 15
443 OPH013 Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency 15
444 EHL082 Ehlers-Danlos Syndrome, Beasley-Cohen Type 15
445 SPS195 Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 15
446 CHR580 Choroid Plexus Calcification and Mental Retardation 15
447 MNT255 Mental Retardation and Psoriasis 15
448 c MNT329 Mental Retardation, Autosomal Dominant 53 15
449 CRN103 Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 15
450 MRF017 Marfanoid Mental Retardation Syndrome, Autosomal 15
451 c SYN082 Syndromic X-Linked Intellectual Disability 14 15
452 c MNT327 Mental Retardation, Autosomal Dominant 51 15
453 c MNT330 Mental Retardation, Autosomal Dominant 54 15
454 c OLV005 Olivopontocerebellar Atrophy V 15
455 c MNT326 Mental Retardation, Autosomal Dominant 50 14
456 CTS046 Cutis Verticis Gyrata and Mental Retardation 14
457 SPS193 Spastic Paraplegia, Epilepsy, and Mental Retardation 14
458 MNT315 Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 14
459 STR102 Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Features 14
460 SPS194 Spastic Paresis, Glaucoma, and Mental Retardation 14
461 DWR021 Dwarfism, Mental Retardation, and Eye Abnormality 14
462 MNT039 Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 13
463 PRK068 Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments 13
464 CRM012 Cree Mental Retardation Syndrome 13
465 HYP816 Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes 13
466 c OLV006 Olivopontocerebellar Atrophy Ii, Autosomal Recessive 13
467 MNT250 Mental Retardation with Spastic Paraplegia 13
468 MNT316 Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 13
469 MND028 Mandibulofacial Dysostosis with Mental Retardation 13
470 c MNT205 Mental Retardation, X-Linked 42 12
471 MTR081 Motor Neuron Disease with Dementia and Ophthalmoplegia 12
472 FCL076 Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 12
473 CTR179 Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy 12
474 c MNT332 Mental Retardation, Autosomal Dominant 56 12
475 c ALP075 Alopecia-Mental Retardation Syndrome 2 11
476 ART149 Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies 11
477 PRN067 Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 11
478 ART055 Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies 11
479 AMY015 Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 11
480 c AMY109 Amyotrophic Lateral Sclerosis Type 22 11
481 VTL010 Vitiligo, Progressive, with Mental Retardation and Urethral Duplication 11
482 SPN396 Spinal Muscular Atrophy with Mental Retardation 10
483 OHD002 Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant 10
484 c ALP063 Alopecia-Mental Retardation Syndrome 3 10
485 CTS047 Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation 10
486 HYP783 Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 10
487 ATX043 Ataxia with Myoclonic Epilepsy and Presenile Dementia 10
488 SPS217 Spastic Paraplegia, Optic Atrophy, and Dementia 10
489 SPN397 Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 10
490 MNT299 Mental and Growth Retardation with Amblyopia 10
491 DMN041 Dementia/parkinsonism with Non-Alzheimer Amyloid Plaques 10
492 MNT331 Mental Retardation, Autosomal Dominant 55, with Seizures 10
493 OHD001 Ohdo Syndrome, Maat-Kievit-Brunner Type 9
494 EPL197 Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation 9
495 SYN091 Syndromic X-Linked Intellectual Disability Nascimento Type 9
496 DSL004 Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 9
497 SCR041 Sucrosuria, Hiatus Hernia and Mental Retardation 9
498 IND013 Indolylacroyl Glycinuria with Mental Retardation 9
499 PSD115 Pseudouridinuria and Mental Defect 9
500 c SYN077 Syndromic X-Linked Intellectual Disability 12 8
501 MCR344 Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 7
502 C9R002 C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia 6
503 c MCR284 Microcephaly and Chorioretinopathy 3 6
504 c MCR283 Microcephaly and Chorioretinopathy 2 6
505 c MCR282 Microcephaly and Chorioretinopathy 1 6
506 EMP013 Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation 6
507 SHR110 Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 5
508 MNT314 Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 5
509 MCR342 Microcephaly, Macrotia, and Mental Retardation 5
510 FBR095 Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation 5
511 ANM047 Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/mental Retardation Syndrome 5
512 PRK050 Parkinsonism with Dementia of Guadeloupe 4
513 P CHR168 Chorioretinopathy Dominant Form Microcephaly 4
514 c MCR059 Microcephaly with Chorioretinopathy, Autosomal Dominant Form 4
515 c MCR048 Microcephaly Chorioretinopathy Recessive Form 4
516 NNP015 Nonprogressive Cerebellar Atxia with Mental Retardation 3
517 MNT020 Mental Retardation Macrocephaly Coarse Facies Hypotonia 3
518 P ATS364 Autism 70
519 c ATS007 Autism Spectrum Disorder 68
520 APN008 Apnea, Obstructive Sleep 67
521 P ATT013 Attention Deficit-Hyperactivity Disorder 67
522 P SLP006 Sleep Apnea 65
523 P ALC004 Alcohol Abuse 63
524 ETN001 Eating Disorder 61
525 SLP005 Sleep Disorder 59
526 APH002 Aphasia 58
527 P SBS003 Substance Abuse 57
528 P PNC025 Panic Disorder 57
529 PRV006 Pervasive Developmental Disorder 56
530 TBC004 Tobacco Addiction 55
531 CND002 Conduct Disorder 54
532 PST021 Postpartum Depression 54
533 TCD001 Tic Disorder 54
534 IMP005 Impotence 54
535 OPT003 Opiate Dependence 54
536 GNR004 Generalized Anxiety Disorder 53
537 END040 Endogenous Depression 53
538 PTH002 Pathological Gambling 53
539 CCN001 Cocaine Dependence 52
540 SCH012 Schizoaffective Disorder 51
541 SBS004 Substance Dependence 51
542 DRG003 Drug Dependence 51
543 ANT011 Antisocial Personality Disorder 51
544 CCN002 Cocaine Abuse 50
545 SCL003 Social Phobia 50
546 BRD004 Borderline Personality Disorder 50
547 LRN003 Learning Disability 49
548 PRM003 Premature Ejaculation 47
549 OPP004 Oppositional Defiant Disorder 47
550 AGR002 Agoraphobia 47
551 GND002 Gender Identity Disorder 46
552 P HYP263 Hypersomnia 45
553 c CNT015 Central Sleep Apnea 45
554 CHR056 Chronic Tic Disorder 45
555 SXL003 Sexual Disorder 45
556 AMN003 Amnestic Disorder 45
557 TRN007 Transsexualism 44
558 ALX001 Alexia 44
559 SCH003 Schizophreniform Disorder 44
560 SPC005 Speech Disorder 44
561 MRP001 Morphine Dependence 43
562 BDY001 Body Dysmorphic Disorder 43
563 IMP006 Impulse Control Disorder 43
564 AVD001 Avoidant Personality Disorder 43
565 HRN003 Heroin Dependence 43
566 MTS001 Mutism 42
567 RMS001 Rem Sleep Behavior Disorder 42
568 DYS009 Dysthymic Disorder 42
569 PHB001 Phobic Disorder 42
570 SMT001 Somatization Disorder 42
571 OPD001 Opioid Abuse 42
572 CNN001 Cannabis Dependence 42
573 INT025 Intermittent Explosive Disorder 42
574 DLS001 Delusional Disorder 41
575 ART002 Arts Syndrome 41
576 PNG002 Pain Agnosia 41
577 c ALC033 Alcohol Use Disorder 40
578 RTR001 Retrograde Amnesia 40
579 HYP030 Hypoactive Sexual Desire Disorder 40
580 PRD002 Periodic Limb Movement Disorder 40
581 ALX002 Alexithymia 40
582 STR015 Stereotypic Movement Disorder 40
583 SPC010 Speech and Communication Disorders 40
584 NNT008 Neonatal Abstinence Syndrome 40
585 KLP001 Kleptomania 40
586 CNN002 Cannabis Abuse 40
587 WTH001 Withdrawal Disorder 40
588 P DYS005 Dyslexia 39
589 SPR012 Separation Anxiety Disorder 39
590 MLN003 Melancholia 39
591 IDM001 Ideomotor Apraxia 38
592 AGR018 Agraphia 38
593 GTP001 Gait Apraxia 38
594 ADJ001 Adjustment Disorder 37
595 DVL001 Developmental Coordination Disorder 37
596 SCH011 Schizotypal Personality Disorder 36
597 AMP007 Amphetamine Abuse 36
598 RDN001 Reading Disorder 36
599 NMN001 Nominal Aphasia 36
600 ECH002 Echolalia 35
601 FCT008 Factitious Disorder 35
602 ACT084 Acute Stress Disorder 35
603 PHB003 Phobia, Specific 35
604 P PRS013 Prosopagnosia 34
605 DSS010 Dissociative Disorder 34
606 ATY001 Atypical Depressive Disorder 34
607 DRG001 Drug Psychosis 33
608 PDP001 Pedophilia 33
609 EXH001 Exhibitionism 32
610 ART014 Articulation Disorder 31
611 P SPC019 Specific Language Impairment 30
612 c RCR002 Recurrent Hypersomnia 30
613 TRN006 Transvestism 30
614 DYS004 Dyscalculia 30
615 PSY003 Psychosexual Disorder 30
616 NSP004 Nosophobia 30
617 DYS003 Dysgraphia 29
618 ANT019 Anterograde Amnesia 29
619 DSS002 Dissociative Amnesia 29
620 OBS003 Obsessive-Compulsive Personality Disorder 29
621 NRC003 Narcissistic Personality Disorder 29
622 SPC003 Specific Developmental Disorder 29
623 DPN001 Dependent Personality Disorder 29
624 ATY003 Atypical Autism 28
625 SYN057 Syndromic Intellectual Disability 27
626 CYC005 Cyclothymic Disorder 27
627 ANS006 Anosognosia 27
628 FTS001 Fetishism 27
629 ALC003 Alcoholic Psychosis 27
630 HST001 Histrionic Personality Disorder 27
631 SBS005 Substance-Induced Psychosis 26
632 PRP015 Paraphilia Disorder 26
633 NNS031 Non-Syndromic Intellectual Disability 26
634 PCD001 Pica Disease 26
635 SCH004 Schizoid Personality Disorder 26
636 AMS001 Amusia 25
637 CPG001 Capgras Syndrome 25
638 EXP001 Expressive Language Disorder 24
639 PHN001 Phencyclidine Abuse 24
640 WRT002 Writing Disorder 23
641 HLL005 Hallucinogen Dependence 23
642 VYR001 Voyeurism 23
643 ADT001 Auditory Agnosia 22
644 c ATS370 Autism 3 22
645 c DYS120 Dyslexia 2 21
646 c ATS369 Autism 8 20
647 c PRS058 Prosopagnosia, Hereditary 20
648 c ATS371 Autism 6 19
649 c DYS121 Dyslexia 1 19
650 SBC016 Subacute Delirium 19
651 c ATS173 Autism 18 19
652 ASS001 Associative Agnosia 18
653 PHN002 Phonagnosia 18
654 c ATS368 Autism 5 18
655 SXL001 Sexual Sadism 18
656 FNG001 Finger Agnosia 17
657 ANM002 Animal Phobia 17
658 c ALC016 Alcohol Sensitivity, Acute 17
659 VRB001 Verbal Auditory Agnosia 16
660 c SPC027 Specific Language Impairment 1 16
661 c FRM002 Form Agnosia 15
662 APP006 Apperceptive Agnosia 15
663 TCT002 Tactile Agnosia 14
664 FLY001 Flying Phobia 14
665 c PNC122 Panic Disorder 1 14
666 PYR003 Pyromania 14
667 c SPC023 Specific Language Impairment 5 14
668 c SPC028 Specific Language Impairment 2 13
669 PSY001 Psychologic Vaginismus 13
670 BRB002 Barbiturate Dependence 13
671 c DYS125 Dyslexia 8 13
672 c ATS377 Autism 16 13
673 SXL002 Sexual Masochism 13
674 AST004 Astereognosia 13
675 c ATS378 Autism 17 13
676 c ATS376 Autism 15 13
677 ATT001 Autotopagnosia 12
678 c TSB001 T-Substance Anomaly 12
679 c ATS170 Autism 19 12
680 BST003 Bestiality 12
681 TRN005 Transient Tic Disorder 12
682 c ATS375 Autism 13 11
683 c ATS374 Autism 12 11
684 c ATS373 Autism 11 11
685 c ATS372 Autism 7 11
686 c ATS171 Autism 9 11
687 AKN001 Akinetopsia 10
688 INT031 Integrative Agnosia 10
689 INH002 Inhibited Male Orgasm 10
690 c PNC068 Panic Disorder 3 9
691 c DYS122 Dyslexia 3 9
692 c SPC015 Specific Language Impairment 4 9
693 c SPC029 Specific Language Impairment 3 9
694 c ATT019 Attention Deficit-Hyperactivity Disorder 1 9
695 BRB003 Barbiturate Abuse 9
696 c ATS172 Autism 10 9
697 c PNC070 Panic Disorder 2 9
698 ADS003 Aids Phobia 8
699 c ATT022 Attention Deficit-Hyperactivity Disorder 4 8
700 c ATT021 Attention Deficit-Hyperactivity Disorder 3 8
701 c ATT020 Attention Deficit-Hyperactivity Disorder 2 8
702 MXD002 Mixed Receptive-Expressive Language Disorder 8
703 c DYS123 Dyslexia 5 8
704 c DYS124 Dyslexia 6 8
705 c DYS126 Dyslexia 9 8
706 MRR002 Mirror Agnosia 8
707 TPG001 Topographical Agnosia 8
708 HLL002 Hallucinogen Abuse 7
709 PSY002 Psychologic Dyspareunia 7
710 EGD001 Ego-Dystonic Sexual Orientation 6
711 SCL006 Social Emotional Agnosia 5
712 SMN003 Semantic Agnosia 4
713 ANT016 Antidepressant Type Abuse 4
714 CLR009 Color Agnosia 3
715 TMG001 Time Agnosia 3
716 MNT304 Mental Retardation, X-Linked, with or Without Seizures, Arx-Related 21
717 PTT059 Pettigrew Syndrome 40
718 MNT303 Mental Retardation, X-Linked, Syndromic, Cabezas Type 29
719 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 60
720 P CRB185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 50
721 MHM001 Mehmo Syndrome 30
722 ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 47
723 MSS001 Masa Syndrome 46
724 PRT052 Partington X-Linked Mental Retardation Syndrome 42
725 MNT309 Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 38
726 c MNT301 Mental Retardation, X-Linked 21 23
727 c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 23
728 CHR639 Chromosome Xp11.22 Duplication Syndrome 15
729 P HRD021 Hereditary Sensory Neuropathy 47
730 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 40
731 ALP095 Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 34
732 c SNS009 Sensory Neuropathy Type 1 27
733 c NRP039 Neuropathy, Hereditary Sensory, Type Id 21
734 c NRP036 Neuropathy, Hereditary Sensory, Type if 21
735 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 19
736 CRB151 Cerebral Creatine Deficiency Syndrome 1 50
737 P MWT001 Mowat-Wilson Syndrome 47
738 LBS001 Lubs X-Linked Mental Retardation Syndrome 41
739 MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 34
740 c MWT002 Mowat-Wilson Syndrome Due to Monosomy 2q22 9
741 c MWT004 Mowat-Wilson Syndrome Due to a Zeb2 Point Mutation 7
742 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 44
743 c MNT187 Mental Retardation, X-Linked 49 24
744 CRP034 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 23
745 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 51
746 WCK001 Wieacker-Wolff Syndrome 33
747 HSD004 Hsd10 Mitochondrial Disease 30
748 c MNT296 Mental Retardation, X-Linked, Syndromic 34 25
749 WDH003 Woodhouse-Sakati Syndrome 47
750 LJN003 Lujan-Fryns Syndrome 33
751 c MNT305 Mental Retardation, X-Linked 12 20
752 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 63
753 P CTS001 Cutis Laxa 62
754 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 37
755 c CTS045 Cutis Laxa, Autosomal Dominant 1 36
756 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 36
757 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 32
758 c CTS034 Cutis Laxa, Autosomal Recessive Type 1 32
759 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 31
760 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30
761 c ACQ027 Acquired Cutis Laxa 29
762 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 28
763 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 25
764 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
765 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 25
766 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
767 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 20
768 c CRB170 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 20
769 c CTS031 Cutis Laxa, Autosomal Dominant 2 19
770 GRS011 Gerstmann-Straussler Disease 48
771 MNT302 Mental Retardation, X-Linked, Syndromic, Christianson Type 30
772 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 27
773 c MNT196 Mental Retardation, X-Linked 92 19
774 RLN001 Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 17
775 c HRD010 Hereditary Spastic Paraplegia 68
776 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 51
777 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 50
778 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 50
779 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 48
780 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 42
781 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 41
782 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 40
783 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 40
784 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 39
785 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 38
786 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 38
787 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 38
788 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 38
789 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 38
790 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 37
791 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 37
792 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 37
793 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 37
794 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 36
795 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
796 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 35
797 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 35
798 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 34
799 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 34
800 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 34
801 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 34
802 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
803 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 34
804 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 33
805 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 33
806 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 33
807 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 33
808 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 32
809 FLP001 Filippi Syndrome 32
810 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 32
811 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 31
812 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 31
813 P SPS012 Spastic Paraplegia 3a 31
814 P HYP441 Hyperphosphatasia with Mental Retardation Syndrome 1 31
815 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 30
816 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 30
817 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 30
818 PRT055 Prieto X-Linked Mental Retardation Syndrome 30
819 c SPS031 Spastic Paraplegia 23 29
820 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
821 c SPS036 Spastic Paraplegia 3 28
822 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 28
823 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 28
824 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 27
825 c HRD186 Hereditary Spastic Paraplegia 51 27
826 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 26
827 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 26
828 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 26
829 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 26
830 c SPS021 Spastic Paraplegia 10 26
831 c SPS039 Spastic Paraplegia 5a 25
832 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 25
833 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 25
834 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 25
835 WSM002 Waisman Syndrome 25
836 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 24
837 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 24
838 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 24
839 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 24
840 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 24
841 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 24
842 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 23
843 c SPS025 Spastic Paraplegia 15 23
844 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 23
845 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 23
846 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 23
847 MNT254 Mental Retardation Syndrome, Mietens-Weber Type 22
848 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 22
849 c SPS091 Spastic Paraplegia 4 21
850 c SPS041 Spastic Paraplegia 6 21
851 c SPS020 Spastic Paraplegia 1 20
852 c SPS013 Spastic Paraplegia 8 19
853 XLN134 X-Linked Intellectual Disability, Siderius Type 19
854 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 19
855 c SPS042 Spastic Paraplegia 9 19
856 c SPS037 Spastic Paraplegia 31 18
857 c SPS034 Spastic Paraplegia 26 18
858 DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 18
859 c SPS023 Spastic Paraplegia 13 18
860 c SPS028 Spastic Paraplegia 18 18
861 c SPS027 Spastic Paraplegia 17 17
862 c SPS080 Spastic Paraplegia 51 16
863 c SPS022 Spastic Paraplegia 12 16
864 c SPS161 Spastic Paraplegia 32 15
865 c SPS035 Spastic Paraplegia 29 15
866 c SPS033 Spastic Paraplegia 25 15
867 c SPS032 Spastic Paraplegia 24 15
868 c HRD188 Hereditary Spastic Paraplegia 72 15
869 PCD002 Pcdh19-Related Female-Limited Epilepsy 15
870 c SPS029 Spastic Paraplegia 19 15
871 c SPS026 Spastic Paraplegia 16 15
872 c SPS038 Spastic Paraplegia 39 14
873 c SPS024 Spastic Paraplegia 14 13
874 c SPS040 Spastic Paraplegia 5b 11
875 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 11
876 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 11
877 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 11
878 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 11
879 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 11
880 c ATS186 Autosomal Recessive Spastic Paraplegia Type 68 11
881 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 11
882 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 11
883 P RTT002 Rett Syndrome 82
884 EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 40
885 GLL028 Gillespie Syndrome 33
886 c RTT008 Rett Syndrome, Congenital Variant 24
887 c MNT143 Mental Retardation, Autosomal Dominant 13 23
888 P CFF008 Coffin-Siris Syndrome 1 59
889 c CFF006 Coffin-Siris Syndrome 5 21
890 NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 20
891 c CFF011 Coffin-Siris Syndrome 6 16
892 P FNG006 Feingold Syndrome 1 44
893 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 41
894 c BRT038 Baraitser-Winter Syndrome 1 37
895 MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 29
896 ALP094 Alpha Thalassemia-Intellectual Disability Syndrome Type 1 24
897 c FNG009 Feingold Syndrome 2 22
898 c BRT039 Baraitser-Winter Syndrome 2 22
899 KHR001 Kahrizi Syndrome 21
900 SCT004 Scott Bryant Graham Syndrome 18
901 XLN197 X-Linked Intellectual Disability-Plagiocephaly Syndrome 16
902 SHL003 Shoulder Girdle Defect Mental Retardation Familial 15
903 ICH006 Ichthyosis Alopecia Eclabion Ectropion Mental Retardation 6
904 OPT054 Opitz-Kaveggia Syndrome 45
905 MYH012 Myhre Syndrome 41
906 c MNT210 Mental Retardation, Autosomal Recessive 42 25
907 c MNT295 Mental Retardation, X-Linked, Syndromic 33 25
908 MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 22
909 CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 22
910 c CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 22
911 DNT005 Dentatorubral-Pallidoluysian Atrophy 50
912 TMP011 Temple-Baraitser Syndrome 32
913 WHT019 White-Sutton Syndrome 23
914 MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 21
915 MNT283 Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly 19
916 MNT320 Mental Retardation, Autosomal Dominant 6, with or Without Seizures 18
917 PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 16
918 c MNT274 Mental Retardation, X-Linked 105 14
919 MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 31
920 HMM004 Hamamy Syndrome 27
921 CRN268 Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis 25
922 c CFF010 Coffin-Siris Syndrome 3 25
923 c CFF009 Coffin-Siris Syndrome 4 24
924 c CFF007 Coffin-Siris Syndrome 2 24
925 SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 21
926 RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 21
927 MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 20
928 RDL026 Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome 19
929 ERL033 Early-Onset Parkinsonism-Intellectual Disability Syndrome 17
930 EPL170 Epilepsy-Aphasia Spectrum 16
931 ULN019 Ulna Hypoplasia-Intellectual Disability Syndrome 15
932 BLP010 Blepharophimosis Intellectual Disability Syndromes 15
933 HYD054 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 13
934 DNM002 Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy 10
935 STC008 Stocco Dos Santos Syndrome 10
936 TRN026 Tranebjaerg Svejgaard Syndrome 9
937 INT288 Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome 8
938 ALD006 Aldred Syndrome 6
939 AKS001 Akesson Syndrome 6
940 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 60
941 c SPN294 Spinocerebellar Ataxia 1 58
942 ALX003 Alexander Disease 58
943 P MCR010 Microcephaly 57
944 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 57
945 P SPN301 Spinocerebellar Ataxia 2 56
946 c SPN291 Spinocerebellar Ataxia 7 52
947 c SPN309 Spinocerebellar Ataxia 6 48
948 c SPN293 Spinocerebellar Ataxia 12 47
949 c SPN296 Spinocerebellar Ataxia 17 46
950 c SPN314 Spinocerebellar Ataxia 10 46
951 NCL006 Nicolaides-Baraitser Syndrome 45
952 c SPN100 Spinocerebellar Ataxia 27 44
953 c SPN305 Spinocerebellar Ataxia 11 43
954 c ATS275 Autosomal Recessive Primary Microcephaly 43
955 c SPN312 Spinocerebellar Ataxia 14 43
956 c SPN265 Spinocerebellar Ataxia 36 41
957 c SPN103 Spinocerebellar Ataxia 31 40
958 c SPN290 Spinocerebellar Ataxia 15 40
959 c SPN106 Spinocerebellar Ataxia 5 40
960 c SPN308 Spinocerebellar Ataxia 28 38
961 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 38
962 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 36
963 c SPN304 Spinocerebellar Ataxia 8 36
964 c SPN094 Spinocerebellar Ataxia 18 36
965 c SPN097 Spinocerebellar Ataxia 23 36
966 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 35
967 c SPN299 Spinocerebellar Ataxia 20 35
968 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 33
969 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 32
970 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 32
971 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 32
972 c SPN104 Spinocerebellar Ataxia 34 32
973 c SPN101 Spinocerebellar Ataxia 29 31
974 PSD088 Pseudobulbar Affect 31
975 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 31
976 c SPN266 Spinocerebellar Ataxia 35 31
977 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 30
978 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 30
979 c SPN099 Spinocerebellar Ataxia 26 30
980 c SPN105 Spinocerebellar Ataxia 4 30
981 c MCR329 Microcephaly, Autosomal Dominant 30
982 c SPN095 Spinocerebellar Ataxia 19 30
983 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 30
984 TMT002 Temtamy Preaxial Brachydactyly Syndrome 30
985 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 29
986 c SPN283 Spinocerebellar Ataxia 37 29
987 P MSC002 Muscular Dystrophy-Dystroglycanopathy 28
988 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 28
989 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 28
990 c SPN284 Spinocerebellar Ataxia 38 27
991 c SPN372 Spinocerebellar Ataxia 43 27
992 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 27
993 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27
994 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
995 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 27
996 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
997 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 27
998 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 27
999 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 26
1000 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 26
1001 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 26
1002 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 26
1003 c SPN247 Spinocerebellar Ataxia Type 19/22 26
1004 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 26
1005 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 26
1006 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 26
1007 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 26
1008 c SPN098 Spinocerebellar Ataxia 25 26
1009 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 26
1010 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 26
1011 c SPN383 Spinocerebellar Ataxia 42 25
1012 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 25
1013 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 25
1014 MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 24
1015 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24
1016 c SPN286 Spinocerebellar Ataxia 40 24
1017 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 24
1018 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24
1019 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 24
1020 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 24
1021 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 24
1022 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 24
1023 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 24
1024 P MNT198 Mental Retardation, X-Linked 98 23
1025 c MNT270 Mental Retardation, Autosomal Recessive 53 23
1026 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 23
1027 EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 23
1028 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 22
1029 c MCR320 Microcephaly 17, Primary, Autosomal Recessive 22
1030 c MNT262 Mental Retardation, Autosomal Dominant 42 22
1031 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 22
1032 c SPN323 Spinocerebellar Ataxia 41 22
1033 c MCR269 Microcephaly 15, Primary, Autosomal Recessive 22
1034 c SPN259 Spinocerebellar Ataxia 32 21
1035 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 21
1036 MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 21
1037 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 21
1038 c SPN102 Spinocerebellar Ataxia 30 21
1039 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 21
1040 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 21
1041 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 20
1042 c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 20
1043 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 20
1044 c SPN418 Spinocerebellar Ataxia 44 20
1045 c SPN107 Spinocerebellar Ataxia 9 20
1046 c MCR255 Microcephaly 9, Primary, Autosomal Recessive 20
1047 c MCR238 Microcephaly 7, Primary, Autosomal Recessive 19
1048 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 19
1049 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 19
1050 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 18
1051 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 17
1052 c SPN336 Spinocerebellar Ataxia Type 16 17
1053 c SPN420 Spinocerebellar Ataxia 46 16
1054 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 16
1055 c SPN419 Spinocerebellar Ataxia 45 15
1056 c MCR356 Microcephaly 19, Primary, Autosomal Recessive 13
1057 MRT007 Martsolf Syndrome 41
1058 PRK087 Parkinson-Dementia Syndrome 30
1059 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 26
1060 MCD002 Mcdonough Syndrome 24
1061 RNL120 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation 23
1062 FLY003 Flynn-Aird Syndrome 22
1063 c MNT248 Mental Retardation, X-Linked 102 22
1064 MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 21
1065 c MNT183 Mental Retardation, Autosomal Recessive 36 20
1066 c MNT275 Mental Retardation, Autosomal Recessive 60 19
1067 SKL011 Skeletal Defects, Genital Hypoplasia, and Mental Retardation 18
1068 c MNT271 Mental Retardation, X-Linked 61 18
1069 c MNT289 Mental Retardation, X-Linked 103 17
1070 c MNT218 Mental Retardation, X-Linked 99 17
1071 c MNT224 Mental Retardation, X-Linked 101 17
1072 c HYP593 Hyperphosphatasia with Mental Retardation Syndrome 5 17
1073 PLT011 Pilotto Syndrome 17
1074 c MNT223 Mental Retardation, X-Linked 100 16
1075 ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 16
1076 c MNT267 Mental Retardation, X-Linked 104 16
1077 c MNT294 Mental Retardation, X-Linked 106 15
1078 MNT028 Mental Retardation Smith Fineman Myers Type 14
1079 MLP003 Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type 12
1080 XLN132 X-Linked Intellectual Disability, Schimke Type 5
1081 P FCS002 Fucosidosis 59
1082 P CNG411 Congenital Disorder of Glycosylation, Type in 55
1083 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
1084 c MCR256 Microphthalmia, Syndromic 9 48
1085 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
1086 DBW001 Dubowitz Syndrome 44
1087 WDM004 Wiedemann-Steiner Syndrome 42
1088 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
1089 OLV002 Oliver Syndrome 41
1090 c MCR263 Microphthalmia, Syndromic 1 41
1091 c MCR261 Microphthalmia, Syndromic 2 40
1092 AYM001 Ayme-Gripp Syndrome 40
1093 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
1094 c MCR241 Microphthalmia, Syndromic 3 39
1095 P MRN003 Marinesco-Sjogren Syndrome 38
1096 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
1097 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
1098 c CNG191 Congenital Disorder of Glycosylation, Type Iia 35
1099 c CNG379 Congenital Disorder of Glycosylation, Type It 34
1100 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
1101 c CNG416 Congenital Disorder of Glycosylation, Type Iy 32
1102 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
1103 c MCR245 Microphthalmia, Syndromic 8 31
1104 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
1105 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
1106 P MCR251 Microphthalmia, Syndromic 6 30
1107 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
1108 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
1109 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
1110 SMT020 Smith-Kingsmore Syndrome 29
1111 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
1112 c CNG188 Congenital Disorder of Glycosylation, Type if 29
1113 c CNG207 Congenital Disorder of Glycosylation, Type Io 29
1114 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
1115 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
1116 c CNG389 Congenital Disorder of Glycosylation, Type Iim 28
1117 c CNG383 Congenital Disorder of Glycosylation, Type Iik 28
1118 RMN002 Ramon Syndrome 27
1119 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
1120 c CNG201 Congenital Disorder of Glycosylation, Type Iij 27
1121 c MCR252 Microphthalmia, Syndromic 5 27
1122 c CNG497 Congenital Disorder of Glycosylation, Type Iio 26
1123 c CNG194 Congenital Disorder of Glycosylation, Type Ig 26
1124 c CNG378 Congenital Disorder of Glycosylation, Type Ir 26
1125 c CNG414 Congenital Disorder of Glycosylation, Type Iil 25
1126 c CNG386 Congenital Disorder of Glycosylation, Type Iu 25
1127 BLB005 Beaulieu-Boycott-Innes Syndrome 25
1128 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
1129 c MCR212 Microphthalmia, Syndromic 12 25
1130 c CNG209 Congenital Disorder of Glycosylation, Type Iif 25
1131 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
1132 CHR506 Choroideremia, Deafness, and Mental Retardation 24
1133 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
1134 c AMY023 Amyotrophic Lateral Sclerosis Type 6 24
1135 CLR029 Clark-Baraitser Syndrome 24
1136 c MCR228 Microphthalmia, Syndromic 13 24
1137 c CNG504 Congenital Disorder of Glycosylation, Type Iip 24
1138 c CNG193 Congenital Disorder of Glycosylation, Type Ip 24
1139 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
1140 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
1141 MTP004 Metaphyseal Acroscyphodysplasia 23
1142 PLL004 Pallister W Syndrome 23
1143 c MCR262 Microphthalmia, Syndromic 4 23
1144 P ALP068 Alopecia-Intellectual Disability Syndrome 23
1145 ZTT001 Zttk Syndrome 23
1146 c CNG203 Congenital Disorder of Glycosylation, Type Iii 23
1147 MGL027 Megalocornea-Intellectual Disability Syndrome 22
1148 c PRK008 Parkinson Disease Type 9 22
1149 c MCR217 Microphthalmia, Syndromic 11 22
1150 HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 22
1151 CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 21
1152 MCR052 Microcephaly Microcornea Syndrome Seemanova Type 21
1153 LWR016 Lowry-Maclean Syndrome 21
1154 XLN162 X-Linked Intellectual Disability, Najm Type 21
1155 c BMN004 Biemond Syndrome Ii 21
1156 CRN267 Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation 20
1157 OCL043 Oculorenocerebellar Syndrome 20
1158 DXT003 Dextrocardia with Unusual Facies and Microphthalmia 20
1159 5Q1001 5q14.3 Microdeletion Syndrome 20
1160 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 19
1161 HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 19
1162 c MCR312 Microphthalmia, Syndromic 10 19
1163 KZL006 Kozlowski-Krajewska Syndrome 19
1164 LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 18
1165 c MNT325 Mental Retardation, Autosomal Recessive 61 18
1166 UVL008 Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability 18
1167 MYT024 Myotonia with Skeletal Abnormalities and Mental Retardation 18
1168 EPL162 Epilepsy-Telangiectasia 18
1169 SHR089 Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome 17
1170 BRC089 Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome 17
1171 XLN128 X-Linked Intellectual Disability, Abidi Type 16
1172 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 16
1173 EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 16
1174 WLM019 Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 15
1175 ZLT002 Zlotogora Syndrome 14
1176 SPS047 Spastic Paraplegia with Precocious Puberty 14
1177 FTZ003 Fitzsimmons Syndrome 14
1178 HRD179 Hair Defect-Photosensitivity-Intellectual Disability Syndrome 14
1179 INT286 Intellectual Disability-Spasticity-Ectrodactyly Syndrome 14
1180 P BMN001 Biemond Syndrome 14
1181 PLN009 Palant Cleft Palate Syndrome 13
1182 DVR003 Devriendt Syndrome 13
1183 CMR005 Camera-Marugo-Cohen Syndrome 12
1184 PSS001 Passos-Bueno Syndrome 12
1185 LJN002 Lujan Syndrome 12
1186 TNK001 Tonoki Syndrome 10
1187 WLK002 Walker Dyson Syndrome 8
1188 c FCS008 Fucosidosis Type 1 8
1189 c ALP081 Alopecia Intellectual Disability Syndrome 2 8
1190 CHD003 Chudley Rozdilsky Syndrome 7
1191 MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 7
1192 ZRR001 Zerres Rietschel Majewski Syndrome 7
1193 SYN073 Syngap1-Related Intellectual Disability 7
1194 KRN006 Karandikar Maria Kamble Syndrome 6
1195 PFF002 Pfeiffer Kapferer Syndrome 6
1196 ZZM001 Zazam Sheriff Phillips Syndrome 6
1197 SPS183 Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome 6
1198 CRT027 Cartwright Nelson Fryns Syndrome 6
1199 KSZ002 Kosztolanyi Syndrome 6
1200 PFF003 Pfeiffer Mayer Syndrome 6
1201 RNL121 Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 6
1202 BDH001 Boudhina Yedes Khiari Syndrome 6
1203 DVS001 Davis Lafer Syndrome 5
1204 PSS002 Piussan Lenaerts Mathieu Syndrome 5
1205 CNT052 Cantalamessa Baldini Ambrosi Syndrome 5
1206 KTS001 Katsantoni Papadakou Lagoyanni Syndrome 5
1207 KNR001 Koone Rizzo Elias Syndrome 5
1208 INT089 Intellectual Deficit - Short Stature - Hypertelorism 5
1209 PPP001 Ppp2r5d-Related Intellectual Disability 5
1210 AMY096 Amyloidosis of Gingiva and Conjunctiva with Intellectual Disability 5
1211 c MRN006 Marinesco-Sjogren-Like Syndrome 5
1212 SNG001 Singh Chhaparwal Dhanda Syndrome 4
1213 MNT026 Mental Retardation Short Stature Microcephaly Eye 4
1214 MCR072 Microdontia Hypodontia Short Stature 4
1215 FNG007 Feingold Trainer Syndrome 4
1216 DKR001 Duker Weiss Siber Syndrome 4
1217 CNT053 Cantu Sanchez-Corona Fragoso Syndrome 4
1218 KZL003 Kozlowski Ouvrier Syndrome 4
1219 HRD065 Hordnes Engebretsen Knudtson Syndrome 4
1220 c BMN003 Biemond Syndrome Type 1 3
1221 SMM001 Sammartino Decreccio Syndrome 3
1222 CNT055 Cantu Sanchez-Corona Hernandez Syndrome 3
1223 GRX001 Grix Blankenship Peterson Syndrome 3
1224 ANX010 Anxiety 72
1225 OBS002 Obsessive-Compulsive Disorder 68
1226 ALC007 Alcohol Dependence 65
1227 GLL008 Gilles De La Tourette Syndrome 64
1228 P NRC002 Narcolepsy 64
1229 PST028 Post-Traumatic Stress Disorder 59
1230 P BLM007 Bulimia Nervosa 1 53
1231 c BLM008 Bulimia Nervosa 2 53
1232 c PNS012 Paine Syndrome 52
1233 APR001 Apraxia 52
1234 STT041 Stuttering 52
1235 P CHR345 Chronic Pain 52
1236 P ASP001 Asperger Syndrome 51
1237 BRX001 Bruxism 51
1238 TRC010 Trichotillomania 46
1239 HYP016 Hypochondriasis 42
1240 TRN012 Transient Global Amnesia 40
1241 RMN001 Rumination Disorder 39
1242 NRT001 Neurotic Disorder 39
1243 CNC001 Cancerophobia 37
1244 VSL003 Visual Agnosia 33
1245 VSC004 Vasculogenic Impotence 33
1246 ALC001 Alcohol-Related Birth Defect 32
1247 MNC002 Munchausen by Proxy 29
1248 c CNT068 Central Pain Syndrome 25
1249 DSS025 Dissociative Seizures 24
1250 c NRC009 Narcolepsy 1 23
1251 SML010 Simultanagnosia 23
1252 ALC002 Alcohol-Related Neurodevelopmental Disorder 22
1253 PRT001 Partial Fetal Alcohol Syndrome 22
1254 CMB002 Combat Disorder 21
1255 CRT007 Cortical Deafness 21
1256 c ASP032 Asperger Syndrome 1 20
1257 c ADV003 Advanced Sleep Phase Syndrome, Familial, 1 20
1258 ELC001 Elective Mutism 19
1259 CLT002 Cluttering 19
1260 c NRC017 Narcolepsy 7 18
1261 c ASP031 Asperger Syndrome 2 17
1262 c ADV007 Advanced Sleep Phase Syndrome, Familial, 2 17
1263 c NRC011 Narcolepsy 3 17
1264 c ADV006 Advanced Sleep Phase Syndrome, Familial, 3 16
1265 c NRC012 Narcolepsy 4 12
1266 c NRC010 Narcolepsy 2 12
1267 c ASP033 Asperger Syndrome 3 12
1268 c NRC013 Narcolepsy 5 11
1269 c ASP034 Asperger Syndrome 4 11
1270 c NRC018 Narcolepsy 6 11
1271 c ADV008 Advanced Sleep Phase Syndrome 2 10
1272 VSL001 Visual Verbal Agnosia 9
1273 FTL063 Fetal Nicotine Spectrum Disorder 3
1274 P FRG001 Fragile X Syndrome 69
1275 c FRG006 Fragile X Syndrome Type 3 4
1276 c FRG005 Fragile X Syndrome Type 2 4
1277 c FRG004 Fragile X Syndrome Type 1 4
1278 CWC001 Cowchock Syndrome 36
1279 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 42
1280 PLY082 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 40
1281 OLV004 Oliver-Mcfarlane Syndrome 33
1282 P NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 57
1283 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 45
1284 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 40
1285 MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 31
1286 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 30
1287 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 26
1288 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 26
1289 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 24
1290 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 23
1291 MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 23
1292 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 22
1293 c HRD195 Hereditary Sensory and Autonomic Neuropathy Type 1e 17
1294 KBG001 Kbg Syndrome 51
1295 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 45
1296 CHR174 Christianson Syndrome 39
1297 PCK003 Pick Disease of Brain 66
1298 CRT072 Creutzfeldt-Jakob Disease 65
1299 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 49
1300 P BRT040 Baraitser-Winter Syndrome 36
1301 CRP036 Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome 19
1302 DND017 Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures 14
1303 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 53
1304 P PTT014 Pitt-Hopkins Syndrome 52
1305 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 52
1306 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28
1307 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 27
1308 c PTT029 Pitt-Hopkins-Like Syndrome 1 25
1309 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 24
1310 c PTT030 Pitt-Hopkins-Like Syndrome 2 23
1311 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 20
1312 c PTT042 Pitt-Hopkins-Like Syndrome 14
1313 INS024 Insulin-Like Growth Factor I 83
1314 ACR008 Acrocallosal Syndrome 56
1315 c SPN311 Spinocerebellar Ataxia 13 42
1316 KFM001 Kaufman Oculocerebrofacial Syndrome 36
1317 c CHR630 Chorea, Benign Hereditary 33
1318 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 30
1319 RCH002 Richards-Rundle Syndrome 30
1320 P CHR636 Chorea, Benign Familial 11
1321 PRR007 Perry Syndrome 51
1322 c SPS092 Spastic Paraplegia 11 26
1323 CRD019 Cardiocranial Syndrome 13
1324 INT090 Intellectual Deficit Buenos-Aires Type 10
1325 LBN005 Lubani-Al Saleh-Teebi Syndrome 7
1326 CFF002 Coffin-Lowry Syndrome 58
1327 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 57
1328 P SJG002 Sjogren-Larsson Syndrome 52
1329 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 36
1330 TMT003 Temtamy Syndrome 29
1331 c SJG003 Sjogren-Larsson-Like Syndrome 7
1332 LSC001 Lesch-Nyhan Syndrome 62
1333 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 31
1334 OPT062 Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures 17
1335 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 60
1336 NTH001 Netherton Syndrome 60
1337 P TRC102 Trichothiodystrophy 1, Photosensitive 59
1338 P SMP003 Simpson-Golabi-Behmel Syndrome 54
1339 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 40
1340 DBR002 De Barsy Syndrome 38
1341 SLT014 Salt and Pepper Developmental Regression Syndrome 37
1342 LNZ003 Lenz-Majewski Hyperostotic Dwarfism 35
1343 c SPN096 Spinocerebellar Ataxia 21 30
1344 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 28
1345 GRR002 Gurrieri Syndrome 25
1346 MD2001 Med23 25
1347 MCR066 Microcephaly-Cardiomyopathy 23
1348 c TRC100 Trichothiodystrophy 3, Photosensitive 21
1349 MCR305 Microcephaly with Cervical Spine Fusion Anomalies 21
1350 MCR306 Microcephaly-Deafness Syndrome 20
1351 OST149 Osteolysis Syndrome, Recessive 19
1352 NRP046 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers 18
1353 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 18
1354 c TRC099 Trichothiodystrophy 2, Photosensitive 18
1355 OST047 Osteopenia and Sparse Hair 17
1356 ART113 Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability 17
1357 WDM002 Wiedemann Oldigs Oppermann Syndrome 16
1358 SYN070 Syngap1-Related Non-Syndromic Intellectual Disability 16
1359 KFF001 Kifafa Seizure Disorder 15
1360 VND003 Van Den Bosch Syndrome 15
1361 ADN078 Adnp Syndrome 13
1362 HNT009 Hunter-Mcalpine Syndrome 13
1363 INT273 Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 11
1364 RRD001 Reardon Wilson Cavanagh Syndrome 10
1365 CDL001 Caudal Appendage Deafness 9
1366 HVP001 Hivep2-Related Intellectual Disability 9
1367 STB003 Setbp1 Disorder 9
1368 BTT012 Battaglia-Neri Syndrome 9
1369 KZN001 Kuzniecky Andermann Syndrome 5
1370 XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 4
1371 VSC007 Vascular Disease 71
1372 P AGN002 Agnosia 61
1373 P FTL001 Fetal Alcohol Syndrome 59
1374 KLN009 Kleine-Levin Hibernation Syndrome 48
1375 CNV002 Conversion Disorder 42
1376 KLV001 Kluver-Bucy Syndrome 41
1377 DPR002 Depersonalization Disorder 38
1378 P ADV001 Advanced Sleep Phase Syndrome 36
1379 LKN025 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 54
1380 c AMY091 Amyotrophic Lateral Sclerosis 1 87
1381 ENC039 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 42
1382 GNT031 Genitopatellar Syndrome 43
1383 BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 28
1384 c WRB002 Warburg Micro Syndrome 1 42
1385 c WRB005 Warburg Micro Syndrome 4 37
1386 BHR001 Behr Syndrome 36
1387 c WRB003 Warburg Micro Syndrome 2 33
1388 P WRB001 Warburg Micro Syndrome 32
1389 c WRB004 Warburg Micro Syndrome 3 23
1390 c DFN036 Deafness, X-Linked 2 36
1391 MMS001 Momo Syndrome 32
1392 c DFN105 Deafness, X-Linked 5 25
1393 c DFN147 Deafness, X-Linked 4 22
1394 c DFN276 Deafness, X-Linked 6 20
1395 c DFN194 Deafness, X-Linked 1 20
1396 P XLN004 X-Linked Nonsyndromic Deafness 18
1397 c DFN146 Deafness, X-Linked 3 16
1398 c DFN186 Deafness, Y-Linked 1 13
1399 P ORT004 Orthostatic Intolerance 68
1400 WVR001 Weaver Syndrome 61
1401 WYB001 Wyburn Mason's Syndrome 27
1402 FKY002 Fukuyama Type Muscular Dystrophy 19
1403 c CHR344 Chronic Orthostatic Intolerance 18
1404 2Q3001 2q37 Deletion Syndrome 14
1405 RMS002 Ramos Arroyo Clark Syndrome 9
1406 c FTL006 Fetal Alcohol Spectrum Disorder 48



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