Mental Diseases Category (1731 diseases)


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

# Family MCID Name MIFTS
1 P BPL003 Bipolar Disorder 61
2 P FRN006 Frontotemporal Dementia 69
3 DMN031 Dementia, Lewy Body 68
4 c MNT135 Mental Retardation, X-Linked, Syndromic 13 36
5 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 65
6 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 38
7 P HRD084 Hereditary Cerebral Amyloid Angiopathy 27
8 c GRN014 Grn-Related Frontotemporal Dementia 40
9 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 39
10 AMY027 Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 32
11 FRN051 Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related 53
12 P FRN044 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 46
13 c CHM002 Chmp2b-Related Frontotemporal Dementia 21
14 P ALZ034 Alzheimer Disease 88
15 c ALZ049 Alzheimer Disease 2 61
16 c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 60
17 c ALZ056 Alzheimer Disease 3 49
18 c ALZ054 Alzheimer Disease 4 47
19 c ALZ050 Alzheimer Disease 5 46
20 c ALZ063 Alzheimer's Disease 1 34
21 c ALZ012 Alzheimer Disease 12 27
22 c ALZ016 Alzheimer Disease 8 26
23 c ALZ053 Alzheimer Disease 7 25
24 c ALZ045 Alzheimer Disease 9 24
25 c ALZ015 Alzheimer Disease 6 24
26 c ALZ062 Alzheimer Disease 19 22
27 c ALZ057 Alzheimer Disease 10 21
28 c ALZ058 Alzheimer Disease 11 21
29 c ALZ061 Alzheimer Disease 15 19
30 c ALZ032 Alzheimer Disease 18 18
31 c ALZ059 Alzheimer Disease 13 17
32 c ALZ031 Alzheimer Disease 17 15
33 c ALZ014 Alzheimer Disease 16 15
34 c ALZ060 Alzheimer Disease 14 15
35 MHM001 Mehmo Syndrome 33
36 FRN030 Frontotemporal Dementia with Parkinsonism-17 24
37 MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 26
38 P HYP553 Hyperphosphatasia with Mental Retardation Syndrome 3 22
39 SMN008 Semantic Dementia 54
40 MNT056 Mental Retardation, X-Linked, Syndromic, Nascimento Type 25
41 BRJ001 Borjeson-Forssman-Lehmann Syndrome 54
42 RTN207 Retinopathy, Pigmentary, and Mental Retardation 20
43 ALP025 Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 12
44 DMN002 Dementia 69
45 KHL003 Kohlschutter-Tonz Syndrome 49
46 MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 28
47 DSS008 Disease of Mental Health 70
48 SPN350 Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration 20
49 SYN092 Syndromic X-Linked Intellectual Disability Cabezas Type 18
50 MDD011 Mood Disorder 65
51 PRN009 Paranoid Schizophrenia 48
52 MNT310 Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 34
53 P MNT319 Mental Retardation, Autosomal Dominant 20 39
54 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia 35
55 c MNT155 Mental Retardation, Autosomal Recessive 2 25
56 c MNT200 Mental Retardation, X-Linked 97 18
57 P ERL057 Early Infantile Epileptic Encephalopathy 49
58 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 45
59 P ATS366 Autism X-Linked 2 45
60 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 42
61 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 42
62 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 40
63 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 38
64 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 34
65 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 34
66 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 32
67 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 32
68 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 32
69 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 32
70 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 31
71 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 29
72 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 28
73 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 26
74 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 25
75 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 25
76 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 25
77 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 25
78 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 24
79 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 24
80 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 24
81 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 24
82 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 24
83 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 24
84 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 24
85 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 24
86 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 23
87 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 23
88 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 23
89 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 23
90 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 23
91 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 23
92 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 22
93 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 22
94 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 22
95 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 22
96 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 22
97 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 22
98 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 22
99 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 22
100 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 22
101 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 22
102 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 22
103 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 22
104 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 22
105 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 22
106 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 21
107 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 21
108 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 21
109 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 21
110 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 21
111 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 21
112 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 21
113 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 21
114 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 21
115 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 21
116 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 21
117 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 20
118 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 20
119 c EPL232 Epileptic Encephalopathy, Early Infantile, 68 18
120 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 18
121 c EPL233 Epileptic Encephalopathy, Early Infantile, 69 17
122 c EPL234 Epileptic Encephalopathy, Early Infantile, 70 16
123 c EPL235 Epileptic Encephalopathy, Early Infantile, 71 15
124 MNT307 Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 24
125 c AMY107 Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia 20
126 c CRB195 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 19
127 ADS004 Aids Dementia Complex 45
128 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 23
129 STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 22
130 c MNT236 Mental Retardation, Autosomal Dominant 39 22
131 DRM023 Dermoodontodysplasia 21
132 DMN012 Dementia - Subcortical 20
133 MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 19
134 c ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 35
135 c MJR007 Major Affective Disorder 1 34
136 P NNS031 Non-Syndromic Intellectual Disability 32
137 ARM006 Armfield X-Linked Mental Retardation Syndrome 22
138 CTR173 Cataract, Ataxia, Short Stature, and Mental Retardation 15
139 PRS056 Presenile Dementia, Kraepelin Type 11
140 SYN083 Syndromic X-Linked Intellectual Disability Shashi Type 10
141 PSY004 Psychotic Disorder 74
142 P SCH015 Schizophrenia 73
143 P MJR001 Major Depressive Disorder 67
144 c SCH079 Schizophrenia 1 47
145 c ERL020 Early-Onset Schizophrenia 38
146 BRK002 Birk-Barel Syndrome 35
147 FRN013 Frontotemporal Dementia, Chromosome 3-Linked 35
148 c SCH082 Schizophrenia 5 34
149 SCH074 Schuurs-Hoeijmakers Syndrome 34
150 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 31
151 c SCH080 Schizophrenia 3 29
152 c SCH081 Schizophrenia 6 27
153 c MNT157 Mental Retardation, Autosomal Dominant 18 25
154 c MNT273 Mental Retardation, Autosomal Dominant 44 23
155 c SCH064 Schizophrenia 10 21
156 c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 19
157 c SCH045 Schizophrenia 12 16
158 c SCH052 Schizophrenia 14 16
159 c SCH084 Schizophrenia 8 14
160 c SCH083 Schizophrenia 7 14
161 c SCH061 Schizophrenia 16 14
162 c MJR013 Major Depressive Disorder 1 14
163 c SCH053 Schizophrenia 13 13
164 c SCH086 Schizophrenia 11 13
165 c MJR014 Major Depressive Disorder 2 12
166 c MNT185 Mental Retardation, Autosomal Dominant 7 29
167 P SPN202 Spinocerebellar Ataxia, X-Linked 1 28
168 c INC029 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 27
169 c MNT246 Mental Retardation, Autosomal Dominant 38 27
170 c MNT212 Mental Retardation, Autosomal Dominant 26 27
171 c MNT241 Mental Retardation, Autosomal Dominant 32 26
172 c MNT219 Mental Retardation, Autosomal Dominant 30 26
173 P MNT298 Mental Retardation, X-Linked, Syndromic, 35 25
174 c MNT322 Mental Retardation, Autosomal Dominant 27 25
175 c MNT214 Mental Retardation, Autosomal Dominant 24 25
176 P INC031 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 24
177 c MNT222 Mental Retardation, Autosomal Dominant 29 24
178 c MNT150 Mental Retardation, Autosomal Recessive 15 23
179 c MNT239 Mental Retardation, Autosomal Dominant 35 23
180 c MNT238 Mental Retardation, Autosomal Dominant 34 23
181 c SPN364 Spinocerebellar Ataxia, X-Linked 3 23
182 c MNT226 Mental Retardation, Autosomal Dominant 31 23
183 c MNT272 Mental Retardation, Autosomal Dominant 41 23
184 c MNT184 Mental Retardation, Autosomal Dominant 11 23
185 c MNT321 Mental Retardation, Autosomal Recessive 37 23
186 c AMY104 Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia 23
187 c MNT186 Mental Retardation, Autosomal Dominant 10 23
188 c MNT324 Mental Retardation, Autosomal Dominant 49 22
189 c MNT211 Mental Retardation, Autosomal Dominant 23 22
190 c MNT179 Mental Retardation, Autosomal Dominant 21 22
191 c MNT245 Mental Retardation, Autosomal Dominant 36 22
192 c MNT207 Mental Retardation, X-Linked, Syndromic 32 21
193 c MNT240 Mental Retardation, Autosomal Dominant 33 21
194 MNT058 Mental Retardation, X-Linked, Syndromic, Turner Type 20
195 c MNT154 Mental Retardation, Autosomal Recessive 14 20
196 c SPN363 Spinocerebellar Ataxia, X-Linked 4 20
197 c SPN203 Spinocerebellar Ataxia, X-Linked 5 19
198 c MNT151 Mental Retardation, Autosomal Recessive 18 19
199 MNT057 Mental Retardation, X-Linked, Syndromic, Raymond Type 18
200 c SPN403 Spinocerebellar Ataxia, X-Linked 2 15
201 AMY102 Amyotrophic Lateral Sclerosis, Juvenile, with Dementia 13
202 KFR001 Kufor-Rakeb Syndrome 48
203 c MJR004 Major Affective Disorder 4 40
204 P AMY106 Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia 35
205 c ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 31
206 c MJR008 Major Affective Disorder 2 31
207 HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 29
208 MLS013 Miles-Carpenter Syndrome 28
209 c MJR003 Major Affective Disorder 6 27
210 BRK011 Brooks-Wisniewski-Brown Syndrome 25
211 c MJR006 Major Affective Disorder 5 24
212 c MNT191 Mental Retardation, X-Linked, Syndromic 17 22
213 MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 20
214 MNT257 Mental Retardation, X-Linked, with Craniofacial Dysmorphism 17
215 FLL034 Fallot Complex with Severe Mental and Growth Retardation 17
216 ABD008 Abidi X-Linked Mental Retardation Syndrome 16
217 CRN293 Craniosynostosis-Mental Retardation-Clefting Syndrome 15
218 ORG003 Organic Mood Syndrome 12
219 c ATS388 Autosomal Dominant Non-Syndromic Intellectual Disability 6 11
220 SYN081 Syndromic X-Linked Intellectual Disability Abidi Type 11
221 XLN023 X-Linked Mental Retardation Craniofacial Abnormal Microcephaly Club 10
222 SYN090 Syndromic X-Linked Intellectual Disability Turner Type 9
223 THM007 Thumb Stiff Brachydactyly Mental Retardation 4
224 c BPL002 Bipolar I Disorder 50
225 c FRN040 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 26
226 c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 25
227 c MNT158 Mental Retardation, Autosomal Dominant 22 25
228 c FRN043 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 24
229 c FRN045 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 23
230 DMN026 Dementia Pugilistica 22
231 c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 22
232 PRN010 Paranoid Personality Disorder 20
233 P ALP076 Alopecia-Mental Retardation Syndrome 1 18
234 DPR016 Depression 73
235 SCH012 Schizoaffective Disorder 54
236 P MJR023 Major Affective Disorder 7 40
237 CHR543 Chromosome 2q37 Deletion Syndrome 35
238 c AMY099 Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia 27
239 c INC015 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 27
240 c MNT145 Mental Retardation, Autosomal Recessive 5 25
241 c MNT280 Mental Retardation, Autosomal Dominant 43 25
242 c MNT166 Mental Retardation, Autosomal Recessive 39 25
243 c MNT213 Mental Retardation, Autosomal Recessive 40 24
244 OHD003 Ohdo Syndrome, X-Linked 24
245 c MNT328 Mental Retardation, Autosomal Dominant 52 24
246 c MNT244 Mental Retardation, Autosomal Recessive 49 24
247 c MNT242 Mental Retardation, Autosomal Dominant 40 23
248 c MNT216 Mental Retardation, Autosomal Recessive 41 23
249 c MNT176 Mental Retardation, Autosomal Recessive 38 23
250 c MNT221 Mental Retardation, Autosomal Recessive 44 22
251 c MNT177 Mental Retardation, Autosomal Recessive 27 22
252 c AMY105 Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia 22
253 AMM001 Amme Complex 22
254 c MNT323 Mental Retardation, Autosomal Dominant 48 21
255 c MNT227 Mental Retardation, Autosomal Recessive 46 21
256 c MNT234 Mental Retardation, Autosomal Recessive 48 21
257 c MNT220 Mental Retardation, Autosomal Recessive 45 20
258 c MNT286 Mental Retardation, Autosomal Dominant 45 20
259 c MNT329 Mental Retardation, Autosomal Dominant 53 20
260 c MNT279 Mental Retardation, Autosomal Dominant 47 20
261 c MNT330 Mental Retardation, Autosomal Dominant 54 20
262 c MNT327 Mental Retardation, Autosomal Dominant 51 20
263 c MNT215 Mental Retardation, Autosomal Recessive 43 20
264 c MNT225 Mental Retardation, Autosomal Recessive 47 20
265 c MNT326 Mental Retardation, Autosomal Dominant 50 20
266 c MNT332 Mental Retardation, Autosomal Dominant 56 20
267 c MNT278 Mental Retardation, Autosomal Dominant 46 19
268 P HYP830 Hypomagnesemia, Seizures, and Mental Retardation 1 19
269 c MNT264 Mental Retardation, Autosomal Recessive 52 18
270 c MNT243 Mental Retardation, Autosomal Recessive 50 18
271 c MNT195 Mental Retardation, X-Linked 96 15
272 MNT107 Mental Retardation, Fra12a Type 14
273 P PRS038 Personality Disorder 68
274 c CRB193 Cerebral Amyloid Angiopathy, App-Related 45
275 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 44
276 c MLT010 Multiple Personality Disorder 44
277 c AMY090 Amyotrophic Lateral Sclerosis 8 42
278 CHL012 Childhood Disintegrative Disease 42
279 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 41
280 CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 41
281 OHD004 Ohdo Syndrome 40
282 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 39
283 c MJR024 Major Affective Disorder 9 36
284 c MJR022 Major Affective Disorder 8 36
285 c AMY085 Amyotrophic Lateral Sclerosis 9 34
286 c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 34
287 c AMY067 Amyotrophic Lateral Sclerosis 18 33
288 c AMY059 Amyotrophic Lateral Sclerosis 19 32
289 c AMY088 Amyotrophic Lateral Sclerosis 3 31
290 c AMY083 Amyotrophic Lateral Sclerosis 11 31
291 CKS001 Ck Syndrome 30
292 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 28
293 c AMY089 Amyotrophic Lateral Sclerosis 7 27
294 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 27
295 c AMY055 Amyotrophic Lateral Sclerosis 17 26
296 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 26
297 c AMY074 Amyotrophic Lateral Sclerosis Type 14 26
298 c AMY022 Amyotrophic Lateral Sclerosis Type 5 23
299 c AMY063 Amyotrophic Lateral Sclerosis 20 23
300 c GLY103 Glycosylphosphatidylinositol Biosynthesis Defect 15 22
301 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 22
302 RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 21
303 HLL013 Hall-Riggs Mental Retardation Syndrome 21
304 c AMY062 Amyotrophic Lateral Sclerosis 12 20
305 c GLY108 Glycosylphosphatidylinositol Biosynthesis Defect 18 20
306 BLP044 Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 20
307 GMS002 Gms Syndrome 19
308 c AMY112 Amyotrophic Lateral Sclerosis 25 19
309 c AMY110 Amyotrophic Lateral Sclerosis 24 19
310 c AMY108 Amyotrophic Lateral Sclerosis 23 18
311 c GLY107 Glycosylphosphatidylinositol Biosynthesis Defect 17 18
312 c GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 18
313 LMB066 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 17
314 WLF012 Wolff Mental Retardation Syndrome 17
315 PTR031 Pterygium Colli and Mental Retardation with Facial and Digital Anomalies 16
316 ULN022 Ulnar Hypoplasia with Mental Retardation 16
317 c MNT204 Mental Retardation, X-Linked 23 16
318 c MNT202 Mental Retardation, X-Linked 53 16
319 SPN347 Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 15
320 SCH022 Schimke X-Linked Mental Retardation Syndrome 15
321 HYP183 Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features 15
322 P MNT312 Mental Health Wellness 1 15
323 SPS218 Spastic Diplegia and Mental Retardation 14
324 c MJR021 Major Affective Disorder 3 13
325 c CSK002 Cask-Related Intellectual Disability 12
326 P SYN073 Syngap1-Related Intellectual Disability 11
327 MNT311 Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration 11
328 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 11
329 KCN019 Kcnk9 Imprinting Syndrome 10
330 c TRD001 Tardbp-Related Amyotrophic Lateral Sclerosis 10
331 c ATS389 Autosomal Dominant Non-Syndromic Intellectual Disability 8 9
332 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 9
333 SYN093 Syndromic X-Linked Intellectual Disability Raymond Type 9
334 c ATS417 Autosomal Dominant Non-Syndromic Intellectual Disability 19 9
335 c ATS360 Autosomal Recessive Intellectual Disability 58 7
336 c ATS410 Autosomal Dominant Intellectual Disability 49 7
337 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 7
338 c MNT313 Mental Health Wellness 2 7
339 c WCR002 Wac-Related Intellectual Disability 7
340 c TRR002 Trio-Related Intellectual Disability 7
341 c SN3001 Sin3a-Related Intellectual Disability Syndrome 7
342 CTS013 Cutis Verticis Gyrata Mental Deficiency 6
343 c ATS403 Autosomal Dominant Intellectual Disability 40 6
344 c ATS348 Autosomal Dominant Intellectual Disability 30 6
345 PTR009 Pterygium Colli Mental Retardation Digital Anomalies 5
346 c ACS002 Acsl4-Related Intellectual Disability 4
347 c ARX002 Arx-Related Intellectual Disability 4
348 c DDX001 Ddx3x-Related Intellectual Disability 4
349 PRT057 Proteus Like Syndrome Mental Retardation Eye Defect 3
350 CNG099 Congenital Heart Disease Radio Ulnar Synostosis Mental Retardation 3
351 CRN100 Craniosynostosis Mental Retardation Heart Defects 3
352 LKM007 Leukomelanoderma Mental Redardation Hypotrichosis 3
353 CRN064 Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation 3
354 SZR004 Seizures Mental Retardation Hair Dysplasia 3
355 EPL007 Epilepsy Mental Deterioration Finnish Type 3
356 SBC025 Subcortical Arteriosclerotic Encephalopathy 24
357 FGS004 Fg Syndrome 4 20
358 SBN004 Sabinas Brittle Hair Syndrome 16
359 MNT306 Mental Retardation, X-Linked, Syndromic, Houge Type 14
360 P PRK057 Parkinson Disease, Late-Onset 77
361 CLF027 Cleft Palate, Isolated 66
362 SMT006 Somatoform Disorder 55
363 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 53
364 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 47
365 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 45
366 c ERL056 Early-Onset Parkinson's Disease 40
367 c PRK090 Parkinson Disease 3, Autosomal Dominant 37
368 c PRK025 Parkinson Disease 10 35
369 c HRD173 Hereditary Late-Onset Parkinson Disease 34
370 c PRK071 Parkinson Disease 14, Autosomal Recessive 30
371 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 28
372 c PRK093 Parkinson Disease 8, Autosomal Dominant 28
373 RCH010 Richieri-Costa/guion-Almeida Syndrome 27
374 c PRK022 Parkinson Disease 12 26
375 c PRK065 Parkinson Disease 20, Early-Onset 25
376 c MNT287 Mental Retardation, Autosomal Recessive 57 25
377 ART103 Arthrogryposis, Mental Retardation, and Seizures 24
378 c PRK052 Parkinson Disease 17 23
379 JWD001 Jawad Syndrome 23
380 c PRK091 Parkinson Disease 4, Autosomal Dominant 23
381 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 23
382 CLF050 Cleft Palate, Cardiac Defects, and Mental Retardation 23
383 c PRK099 Parkinson Disease 18, Autosomal Dominant 23
384 c MNT282 Mental Retardation, Autosomal Recessive 55 22
385 c PRK070 Parkinson Disease 21 22
386 c JVN058 Juvenile-Onset Parkinson's Disease 22
387 SFR001 Sifrim-Hitz-Weiss Syndrome 22
388 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 22
389 c MNT285 Mental Retardation, Autosomal Recessive 58 21
390 CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 21
391 c MNT337 Mental Retardation, Autosomal Dominant 58 20
392 c PRK094 Parkinson Disease 11, Autosomal Dominant 20
393 c MNT336 Mental Retardation, Autosomal Recessive 64 20
394 MNT118 Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 20
395 c MNT263 Mental Retardation, Autosomal Recessive 51 19
396 c PRK083 Parkinson Disease 22, Autosomal Dominant 19
397 c PRK096 Parkinson Disease 13, Autosomal Dominant 19
398 c MNT197 Mental Retardation, X-Linked, Syndromic 9 18
399 c MNT335 Mental Retardation, Autosomal Recessive 63 18
400 c MNT277 Mental Retardation, Autosomal Recessive 54 18
401 c LRR001 Lrrk2-Related Parkinson Disease 18
402 c MNT281 Mental Retardation, Autosomal Recessive 59 18
403 c MNT338 Mental Retardation, Autosomal Recessive 65 18
404 CRB158 Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 18
405 c MNT284 Mental Retardation, Autosomal Recessive 56 17
406 c PRK058 Parkinson Disease 16 17
407 MNT331 Mental Retardation, Autosomal Dominant 55, with Seizures 16
408 c PRK098 Parkinson Disease 5, Autosomal Dominant 16
409 c VPS003 Vps35-Related Parkinson Disease 10
410 c BPL001 Bipolar Ll Disorder 5
411 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 69
412 MNT002 Mental Depression 65
413 P OLV001 Olivopontocerebellar Atrophy 49
414 DLS001 Delusional Disorder 41
415 BHV002 Behavioral Variant of Frontotemporal Dementia 41
416 CLB026 Colobomatous Microphthalmia 40
417 c SCH085 Schizophrenia 2 38
418 c ATS384 Autosomal Dominant Non-Syndromic Intellectual Disability 2 36
419 SPS226 Spastic Paraplegia, Ataxia, and Mental Retardation 32
420 c ATS385 Autosomal Dominant Non-Syndromic Intellectual Disability 3 31
421 c AMY023 Amyotrophic Lateral Sclerosis Type 6 31
422 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 30
423 MGL033 Megalocornea-Mental Retardation Syndrome 29
424 DRG004 Drug-Induced Mental Disorder 28
425 ALP085 Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 28
426 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 26
427 CHR506 Choroideremia, Deafness, and Mental Retardation 25
428 MNT256 Mental Retardation, Buenos Aires Type 24
429 SPN368 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 23
430 P SYN064 Syndromic X-Linked Intellectual Disability 23
431 ALC013 Alcohol-Induced Mental Disorder 23
432 c ATS383 Autosomal Dominant Non-Syndromic Intellectual Disability 1 23
433 c CRB170 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 22
434 c MNT181 Mental Retardation, Autosomal Recessive 35 22
435 c SYN078 Syndromic X-Linked Intellectual Disability Type 10 21
436 BRC121 Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation 20
437 c SCH051 Schizophrenia 4 20
438 NNS032 Non-Syndromic X-Linked Intellectual Disability 20
439 c MNT162 Mental Retardation, Autosomal Recessive 24 20
440 MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 20
441 c MNT172 Mental Retardation, Autosomal Recessive 25 19
442 c MNT165 Mental Retardation, Autosomal Recessive 28 19
443 CHR397 Chromosome Xp11.3 Deletion Syndrome 19
444 KNN010 Kennerknecht Syndrome 19
445 c MNT163 Mental Retardation, Autosomal Recessive 30 19
446 RSS027 Russell-Silver Syndrome, X-Linked 19
447 c MNT182 Mental Retardation, Autosomal Recessive 19 19
448 PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 18
449 c SCH075 Schizophrenia 19 18
450 c MNT167 Mental Retardation, Autosomal Recessive 16 18
451 HYP688 Hypospadias-Mental Retardation Syndrome 18
452 c MNT180 Mental Retardation, Autosomal Recessive 33 18
453 c MNT170 Mental Retardation, Autosomal Recessive 23 18
454 c SCH073 Schizophrenia 9 18
455 c MNT161 Mental Retardation, Autosomal Recessive 29 18
456 c SYN082 Syndromic X-Linked Intellectual Disability 14 18
457 SPN344 Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 18
458 ARL006 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 18
459 OPH013 Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency 18
460 c ATS387 Autosomal Dominant Non-Syndromic Intellectual Disability 5 17
461 MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 17
462 ART029 Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 17
463 DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 17
464 CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 17
465 c SYN056 Syndromic X-Linked Intellectual Disability 7 17
466 MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 17
467 ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 16
468 c SCH056 Schizophrenia 15 16
469 c MNT160 Mental Retardation, Autosomal Recessive 31 16
470 c MNT247 Mental Retardation, X-Linked 73 16
471 CHM001 Cahmr Syndrome 16
472 MNT255 Mental Retardation and Psoriasis 16
473 CHR580 Choroid Plexus Calcification and Mental Retardation 16
474 MNT030 Mental Retardation Syndrome, Belgian Type 16
475 ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 16
476 HRD035 Hair Defect with Photosensitivity and Mental Retardation 16
477 c ATS386 Autosomal Dominant Non-Syndromic Intellectual Disability 4 15
478 c SCH087 Schizophrenia 18 15
479 EHL082 Ehlers-Danlos Syndrome, Beasley-Cohen Type 15
480 SPS195 Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 15
481 c MNT194 Mental Retardation, X-Linked 50 15
482 ECT104 Ectodermal Dysplasia with Mental Retardation and Syndactyly 15
483 CRN103 Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 15
484 MRF017 Marfanoid Mental Retardation Syndrome, Autosomal 15
485 SPS194 Spastic Paresis, Glaucoma, and Mental Retardation 14
486 MTR081 Motor Neuron Disease with Dementia and Ophthalmoplegia 14
487 c OLV005 Olivopontocerebellar Atrophy V 14
488 SPS193 Spastic Paraplegia, Epilepsy, and Mental Retardation 14
489 GRW038 Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 14
490 c ALP075 Alopecia-Mental Retardation Syndrome 2 14
491 c AMY079 Amyotrophic Lateral Sclerosis Type 15 14
492 CTS046 Cutis Verticis Gyrata and Mental Retardation 14
493 MNT315 Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 14
494 DWR021 Dwarfism, Mental Retardation, and Eye Abnormality 14
495 HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 13
496 STR102 Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Features 13
497 MNT039 Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 13
498 c OLV006 Olivopontocerebellar Atrophy Ii, Autosomal Recessive 13
499 PRK068 Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments 13
500 CHR669 Chromosome 2p16.3 Deletion Syndrome 13
501 OHD002 Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant 13
502 MND028 Mandibulofacial Dysostosis with Mental Retardation 13
503 HYP816 Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes 13
504 CRM012 Cree Mental Retardation Syndrome 13
505 SPN396 Spinal Muscular Atrophy with Mental Retardation 13
506 c ALP063 Alopecia-Mental Retardation Syndrome 3 13
507 MNT316 Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 13
508 c MNT205 Mental Retardation, X-Linked 42 12
509 FCL076 Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 12
510 SYN079 Syndromic X-Linked Intellectual Disability Siderius Type 12
511 CTR179 Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy 11
512 c C9R002 C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia 11
513 ART149 Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies 11
514 c INT336 Intellectual Developmental Disorder, Autosomal Recessive 68 11
515 c HYP834 Hypomagnesemia, Seizures, and Mental Retardation 2 11
516 PRN067 Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 11
517 ART055 Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies 11
518 c AMY109 Amyotrophic Lateral Sclerosis Type 22 11
519 AMY015 Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 11
520 MNT250 Mental Retardation with Spastic Paraplegia 11
521 MCR370 Macrocephaly, Acquired, with Impaired Intellectual Development 11
522 c ATS390 Autosomal Dominant Non-Syndromic Intellectual Disability 9 11
523 VTL010 Vitiligo, Progressive, with Mental Retardation and Urethral Duplication 10
524 HYP783 Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 10
525 CTS047 Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation 10
526 ATX043 Ataxia with Myoclonic Epilepsy and Presenile Dementia 10
527 SPS217 Spastic Paraplegia, Optic Atrophy, and Dementia 10
528 SPN397 Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 10
529 DMN041 Dementia/parkinsonism with Non-Alzheimer Amyloid Plaques 10
530 MNT299 Mental and Growth Retardation with Amblyopia 10
531 P INT335 Intellectual Developmental Disorder, Autosomal Recessive 67 9
532 c ATS394 Autosomal Dominant Mental Retardation 55 9
533 EPL197 Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation 9
534 IND013 Indolylacroyl Glycinuria with Mental Retardation 9
535 SCR041 Sucrosuria, Hiatus Hernia and Mental Retardation 9
536 SYN091 Syndromic X-Linked Intellectual Disability Nascimento Type 8
537 OHD001 Ohdo Syndrome, Maat-Kievit-Brunner Type 8
538 PSD115 Pseudouridinuria and Mental Defect 8
539 DSL004 Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 8
540 c SYN077 Syndromic X-Linked Intellectual Disability 12 8
541 MCR344 Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 7
542 EMP013 Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation 6
543 SHR110 Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 5
544 MCR342 Microcephaly, Macrotia, and Mental Retardation 5
545 MNT314 Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 5
546 ANM047 Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/mental Retardation Syndrome 5
547 FBR095 Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation 5
548 SYN094 Syndromic X-Linked Mental Retardation Hough Type 3
549 MNT020 Mental Retardation Macrocephaly Coarse Facies Hypotonia 3
550 P ORT004 Orthostatic Intolerance 69
551 P ALC004 Alcohol Abuse 69
552 P ATS364 Autism 68
553 c ATS007 Autism Spectrum Disorder 68
554 P KBK002 Kabuki Syndrome 1 67
555 P BRD002 Bardet-Biedl Syndrome 65
556 TBC004 Tobacco Addiction 64
557 P SBS003 Substance Abuse 61
558 P TCD001 Tic Disorder 60
559 c PRX045 Peroxisome Biogenesis Disorder 1b 59
560 END040 Endogenous Depression 59
561 IMP005 Impotence 58
562 VSC002 Vascular Dementia 58
563 PRV006 Pervasive Developmental Disorder 56
564 ART002 Arts Syndrome 56
565 OPT003 Opiate Dependence 55
566 PST021 Postpartum Depression 55
567 GNR004 Generalized Anxiety Disorder 55
568 P SCK004 Seckel Syndrome 54
569 PNG002 Pain Agnosia 54
570 P CNG010 Congenital Stationary Night Blindness 54
571 SXL003 Sexual Disorder 53
572 CND002 Conduct Disorder 53
573 AMN003 Amnestic Disorder 53
574 RNP003 Renpenning Syndrome 1 52
575 PTH002 Pathological Gambling 52
576 c BRD012 Bardet-Biedl Syndrome 11 52
577 WTH001 Withdrawal Disorder 51
578 c PRX059 Peroxisome Biogenesis Disorder 1a 51
579 SPC010 Speech and Communication Disorders 51
580 CCN002 Cocaine Abuse 51
581 DRG003 Drug Dependence 51
582 CCN001 Cocaine Dependence 51
583 BRD004 Borderline Personality Disorder 50
584 c CNT015 Central Sleep Apnea 50
585 SPC005 Speech Disorder 50
586 ANT011 Antisocial Personality Disorder 50
587 c HNT010 Huntington Disease-Like 1 50
588 SBS004 Substance Dependence 49
589 SCL003 Social Phobia 49
590 OPP004 Oppositional Defiant Disorder 49
591 P RHZ001 Rhizomelic Chondrodysplasia Punctata 49
592 c BRD013 Bardet-Biedl Syndrome 12 49
593 c CHR056 Chronic Tic Disorder 48
594 c HNT004 Huntington Disease-Like 2 48
595 c SPL067 Split-Hand/foot Malformation 1 47
596 c BRD044 Bardet-Biedl Syndrome 17 47
597 PRM003 Premature Ejaculation 47
598 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
599 P KLF001 Kleefstra Syndrome 46
600 AGR002 Agoraphobia 46
601 P HYP263 Hypersomnia 45
602 c SCK009 Seckel Syndrome 1 45
603 c BRD032 Bardet-Biedl Syndrome 14 45
604 c BRD011 Bardet-Biedl Syndrome 10 45
605 RMS001 Rem Sleep Behavior Disorder 45
606 ECH002 Echolalia 45
607 GND002 Gender Identity Disorder 45
608 BDY001 Body Dysmorphic Disorder 45
609 CNN001 Cannabis Dependence 44
610 DLY008 Delayed Sleep Phase Disorder 44
611 HYP030 Hypoactive Sexual Desire Disorder 44
612 OPD001 Opioid Abuse 43
613 ALX002 Alexithymia 43
614 DYS009 Dysthymic Disorder 43
615 c BRD020 Bardet-Biedl Syndrome 8 43
616 SCH003 Schizophreniform Disorder 43
617 PHB001 Phobic Disorder 43
618 MTS001 Mutism 43
619 IMP006 Impulse Control Disorder 43
620 P PNT019 Pontocerebellar Hypoplasia 43
621 CNN002 Cannabis Abuse 42
622 c BRD033 Bardet-Biedl Syndrome 13 42
623 P DYS005 Dyslexia 42
624 c NGH026 Night Blindness, Congenital Stationary, Type 1a 42
625 c AMY069 Amyotrophic Lateral Sclerosis 21 42
626 TRN007 Transsexualism 42
627 HRN003 Heroin Dependence 42
628 MRP001 Morphine Dependence 42
629 STR015 Stereotypic Movement Disorder 42
630 c BRD048 Bardet-Biedl Syndrome 18 42
631 c PNT036 Pontocerebellar Hypoplasia, Type 6 42
632 ALX001 Alexia 42
633 c RCR002 Recurrent Hypersomnia 42
634 NNT008 Neonatal Abstinence Syndrome 42
635 SMT001 Somatization Disorder 40
636 c SPL034 Split-Hand/foot Malformation 4 40
637 c PNT049 Pontocerebellar Hypoplasia, Type 2d 40
638 KLP001 Kleptomania 40
639 c HNT011 Huntington Disease-Like 3 40
640 ATY001 Atypical Depressive Disorder 40
641 c SCK015 Seckel Syndrome 2 40
642 MLN003 Melancholia 40
643 INT025 Intermittent Explosive Disorder 39
644 c BRD035 Bardet-Biedl Syndrome 15 39
645 RTR001 Retrograde Amnesia 39
646 AMP007 Amphetamine Abuse 39
647 RDN001 Reading Disorder 39
648 P SPL061 Split Hand-Foot Malformation 39
649 c BRD017 Bardet-Biedl Syndrome 5 39
650 AGR018 Agraphia 39
651 ACT084 Acute Stress Disorder 39
652 c PNT010 Pontocerebellar Hypoplasia Type 1 39
653 c PNT018 Pontocerebellar Hypoplasia, Type 1b 38
654 DSS010 Dissociative Disorder 38
655 DVL001 Developmental Coordination Disorder 38
656 PHB003 Phobia, Specific 38
657 c WRB005 Warburg Micro Syndrome 4 37
658 PRD002 Periodic Limb Movement Disorder 37
659 AVD001 Avoidant Personality Disorder 37
660 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 37
661 c SPL070 Split-Hand/foot Malformation 2 37
662 ANS006 Anosognosia 37
663 SPR012 Separation Anxiety Disorder 36
664 c SPL033 Split-Hand/foot Malformation 6 36
665 c BRD045 Bardet-Biedl Syndrome 19 36
666 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 36
667 SYN089 Syndromic X-Linked Intellectual Disability Snyder Type 36
668 P SPC019 Specific Language Impairment 35
669 IDM001 Ideomotor Apraxia 35
670 ADJ001 Adjustment Disorder 35
671 PCD001 Pica Disease 35
672 DRG001 Drug Psychosis 35
673 c PNT045 Pontocerebellar Hypoplasia, Type 1a 34
674 PHN001 Phencyclidine Abuse 34
675 SCH011 Schizotypal Personality Disorder 34
676 c WRB003 Warburg Micro Syndrome 2 34
677 SBC016 Subacute Delirium 34
678 ART014 Articulation Disorder 34
679 c BRD047 Bardet-Biedl Syndrome 16 34
680 FCT008 Factitious Disorder 34
681 c KLF004 Kleefstra Syndrome 1 33
682 c SPL025 Split-Hand/foot Malformation 5 33
683 NMN001 Nominal Aphasia 33
684 PSY003 Psychosexual Disorder 33
685 PDP001 Pedophilia 33
686 OBS003 Obsessive-Compulsive Personality Disorder 33
687 P WRB001 Warburg Micro Syndrome 33
688 c PRX055 Peroxisome Biogenesis Disorder 11a 33
689 ANT019 Anterograde Amnesia 32
690 c PNT043 Pontocerebellar Hypoplasia, Type 4 32
691 c PNT037 Pontocerebellar Hypoplasia, Type 3 32
692 PRP015 Paraphilia Disorder 32
693 c PNT044 Pontocerebellar Hypoplasia, Type 2a 32
694 c NGH007 Night Blindness, Congenital Stationary, Type 1b 31
695 GTP001 Gait Apraxia 31
696 DYS004 Dyscalculia 31
697 SBS005 Substance-Induced Psychosis 31
698 SPC003 Specific Developmental Disorder 31
699 c NGH025 Night Blindness, Congenital Stationary, Type 2a 31
700 c SCK011 Seckel Syndrome 5 30
701 SYN057 Syndromic Intellectual Disability 30
702 NSP004 Nosophobia 30
703 c JVN015 Juvenile Huntington Disease 30
704 c PNT035 Pontocerebellar Hypoplasia, Type 1c 30
705 c PNT032 Pontocerebellar Hypoplasia, Type 9 30
706 EXH001 Exhibitionism 30
707 c ATS168 Autosomal Dominant Congenital Stationary Night Blindness 30
708 c SCK010 Seckel Syndrome 4 30
709 c PNT033 Pontocerebellar Hypoplasia, Type 10 30
710 c PRX060 Peroxisome Biogenesis Disorder 5a 30
711 DSS002 Dissociative Amnesia 29
712 c PRX063 Peroxisome Biogenesis Disorder 2a 29
713 c NGH010 Night Blindness, Congenital Stationary, Autosomal Dominant 2 29
714 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 29
715 c RBN008 Rubinstein-Taybi Syndrome 2 29
716 DPN001 Dependent Personality Disorder 29
717 CYC005 Cyclothymic Disorder 29
718 c PRX056 Peroxisome Biogenesis Disorder 11b 29
719 AMS001 Amusia 28
720 c PNT046 Pontocerebellar Hypoplasia, Type 5 28
721 ATY003 Atypical Autism 28
722 SCH004 Schizoid Personality Disorder 28
723 c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 28
724 c PRX048 Peroxisome Biogenesis Disorder 10a 28
725 c PRX054 Peroxisome Biogenesis Disorder 12a 28
726 c PRX053 Peroxisome Biogenesis Disorder 14b 28
727 NRC003 Narcissistic Personality Disorder 27
728 ALC003 Alcoholic Psychosis 27
729 c PRX051 Peroxisome Biogenesis Disorder 6a 27
730 c PNT039 Pontocerebellar Hypoplasia, Type 7 26
731 c BRD050 Bardet-Biedl Syndrome 21 26
732 c KBK003 Kabuki Syndrome 2 26
733 c PNT051 Pontocerebellar Hypoplasia, Type 1d 25
734 c PRX050 Peroxisome Biogenesis Disorder 9b 25
735 c PNT050 Pontocerebellar Hypoplasia, Type 11 25
736 HST001 Histrionic Personality Disorder 25
737 c PRX046 Peroxisome Biogenesis Disorder 7a 25
738 c PRX091 Peroxisome Biogenesis Disorder 8a 25
739 MXD044 Mixed Sleep Apnea 25
740 c PNT047 Pontocerebellar Hypoplasia, Type 2b 25
741 c PRX057 Peroxisome Biogenesis Disorder 4a 25
742 c PNT048 Pontocerebellar Hypoplasia, Type 2c 25
743 TRN006 Transvestism 25
744 c PRX065 Peroxisome Biogenesis Disorder 3a 25
745 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
746 c PRX043 Peroxisome Biogenesis Disorder 6b 25
747 c PRX052 Peroxisome Biogenesis Disorder 13a 24
748 c NGH027 Night Blindness, Congenital Stationary, Type 1c 24
749 c SCK029 Seckel Syndrome 7 24
750 c ATS370 Autism 3 24
751 ADT001 Auditory Agnosia 24
752 c WRB004 Warburg Micro Syndrome 3 23
753 c PRX058 Peroxisome Biogenesis Disorder 4b 23
754 c PRX047 Peroxisome Biogenesis Disorder 5b 23
755 c PRX062 Peroxisome Biogenesis Disorder 8b 23
756 CPG001 Capgras Syndrome 23
757 c BRD051 Bardet-Biedl Syndrome 20 23
758 c NGH030 Night Blindness, Congenital Stationary, Type 1f 23
759 c CFF011 Coffin-Siris Syndrome 6 23
760 FTS001 Fetishism 23
761 c NGH028 Night Blindness, Congenital Stationary, Type 1d 22
762 c SCK037 Seckel Syndrome 9 22
763 c ALC016 Alcohol Sensitivity, Acute 22
764 c SCK038 Seckel Syndrome 10 22
765 c CFF006 Coffin-Siris Syndrome 5 21
766 c PRX066 Peroxisome Biogenesis Disorder 3b 21
767 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
768 c NGH008 Night Blindness, Congenital Stationary, Autosomal Dominant 3 21
769 c SCK033 Seckel Syndrome 8 21
770 TCT002 Tactile Agnosia 21
771 c ATS369 Autism 8 20
772 EXP001 Expressive Language Disorder 20
773 c NGH024 Night Blindness, Congenital Stationary, Type 1h 20
774 c ATS367 Autism X-Linked 3 20
775 HLL005 Hallucinogen Dependence 20
776 c DYS121 Dyslexia 1 20
777 c NGH022 Night Blindness, Congenital Stationary, Type 1g 20
778 P PRX064 Peroxisome Biogenesis Disorder 2b 20
779 c ATS365 Autism X-Linked 1 20
780 c NGH021 Night Blindness, Congenital Stationary, Autosomal Dominant 1 20
781 c PRX089 Peroxisome Biogenesis Disorder 10b 20
782 c PRX068 Peroxisome Biogenesis Disorder 7b 19
783 c DYS120 Dyslexia 2 19
784 PYR003 Pyromania 19
785 c ATS173 Autism 18 19
786 SXL001 Sexual Sadism 19
787 c CFF012 Coffin-Siris Syndrome 7 18
788 c SCK032 Seckel Syndrome 6 18
789 WRT002 Writing Disorder 18
790 ANM002 Animal Phobia 18
791 c ATS371 Autism 6 18
792 c KLF005 Kleefstra Syndrome 2 17
793 SXL002 Sexual Masochism 17
794 c CHR344 Chronic Orthostatic Intolerance 17
795 FNG001 Finger Agnosia 17
796 DVL019 Developmental Delay and Seizures with or Without Movement Abnormalities 17
797 c SPC027 Specific Language Impairment 1 17
798 c HNT014 Huntington Disease-Like Syndrome Due to C9orf72 Expansions 17
799 VRB001 Verbal Auditory Agnosia 16
800 AST004 Astereognosia 16
801 c HNT013 Huntington Disease-Like Syndrome 15
802 c ATS376 Autism 15 15
803 c FRM002 Form Agnosia 15
804 c SPC023 Specific Language Impairment 5 15
805 c PNT052 Pontocerebellar Hypoplasia, Type 12 14
806 FLY001 Flying Phobia 14
807 c CFF013 Coffin-Siris Syndrome 8 14
808 c SPC028 Specific Language Impairment 2 14
809 VYR001 Voyeurism 13
810 c DYS125 Dyslexia 8 13
811 c KLF002 Kleefstra Syndrome Due to a Point Mutation 13
812 c ATS170 Autism 19 13
813 c ATS377 Autism 16 13
814 BRB002 Barbiturate Dependence 13
815 BST003 Bestiality 13
816 c ATS378 Autism 17 13
817 PSY001 Psychologic Vaginismus 13
818 c ATS177 Autism X-Linked 5 13
819 ATT001 Autotopagnosia 13
820 c SYN070 Syngap1-Related Non-Syndromic Intellectual Disability 12
821 c ATS372 Autism 7 12
822 c ATS373 Autism 11 12
823 c ATS374 Autism 12 12
824 c ATS375 Autism 13 12
825 c TSB001 T-Substance Anomaly 12
826 APP006 Apperceptive Agnosia 11
827 c TRN005 Transient Tic Disorder 11
828 c ATS171 Autism 9 11
829 AKN001 Akinetopsia 11
830 c ATS172 Autism 10 10
831 PHN002 Phonagnosia 10
832 c SPC015 Specific Language Impairment 4 10
833 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 10
834 ASS001 Associative Agnosia 10
835 c SPC029 Specific Language Impairment 3 10
836 INT031 Integrative Agnosia 10
837 c DYS122 Dyslexia 3 9
838 c DYS126 Dyslexia 9 9
839 c DYS124 Dyslexia 6 9
840 c DYS123 Dyslexia 5 9
841 ADS003 Aids Phobia 9
842 BRB003 Barbiturate Abuse 8
843 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 8
844 MXD002 Mixed Receptive-Expressive Language Disorder 8
845 P RBN007 Rubinstein Taybi Like Syndrome 7
846 HLL002 Hallucinogen Abuse 7
847 MRR002 Mirror Agnosia 7
848 EGD001 Ego-Dystonic Sexual Orientation 6
849 PSY002 Psychologic Dyspareunia 6
850 TPG001 Topographical Agnosia 5
851 SCL006 Social Emotional Agnosia 5
852 SMN003 Semantic Agnosia 4
853 ANT016 Antidepressant Type Abuse 4
854 TMG001 Time Agnosia 3
855 CLR009 Color Agnosia 3
856 MNT304 Mental Retardation, X-Linked, with or Without Seizures, Arx-Related 20
857 PTT059 Pettigrew Syndrome 44
858 MNT303 Mental Retardation, X-Linked, Syndromic, Cabezas Type 29
859 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 62
860 P CRB185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 49
861 ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 43
862 MSS001 Masa Syndrome 47
863 PRT052 Partington X-Linked Mental Retardation Syndrome 41
864 ALP095 Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 36
865 MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 36
866 c MNT301 Mental Retardation, X-Linked 21 23
867 P HRD021 Hereditary Sensory Neuropathy 50
868 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 40
869 c SNS009 Sensory Neuropathy Type 1 27
870 c NRP036 Neuropathy, Hereditary Sensory, Type if 25
871 RYN006 Raynaud-Claes Syndrome 23
872 c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 23
873 CRP034 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 22
874 c NRP039 Neuropathy, Hereditary Sensory, Type Id 22
875 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 20
876 c SPT021 Sptlc1-Related Hereditary Sensory Neuropathy 15
877 CHR639 Chromosome Xp11.22 Duplication Syndrome 14
878 CRB151 Cerebral Creatine Deficiency Syndrome 1 49
879 LBS001 Lubs X-Linked Mental Retardation Syndrome 45
880 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 44
881 c MNT305 Mental Retardation, X-Linked 12 20
882 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 51
883 P CFF008 Coffin-Siris Syndrome 1 57
884 c MNT143 Mental Retardation, Autosomal Dominant 13 38
885 WCK001 Wieacker-Wolff Syndrome 36
886 c MNT296 Mental Retardation, X-Linked, Syndromic 34 26
887 c MNT196 Mental Retardation, X-Linked 92 20
888 RLN001 Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 17
889 P CTS001 Cutis Laxa 62
890 c ATS393 Autosomal Recessive Cutis Laxa Type I 50
891 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 49
892 c CTS045 Cutis Laxa, Autosomal Dominant 1 46
893 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 38
894 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
895 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 36
896 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
897 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 33
898 LJN003 Lujan-Fryns Syndrome 32
899 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 31
900 c HYP441 Hyperphosphatasia with Mental Retardation Syndrome 1 31
901 c ACQ027 Acquired Cutis Laxa 30
902 c CTS031 Cutis Laxa, Autosomal Dominant 2 29
903 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 26
904 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
905 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
906 c ATP003 Atp6v0a2-Related Cutis Laxa 21
907 c LTB003 Ltbp4-Related Cutis Laxa 16
908 c EFM001 Efemp2-Related Cutis Laxa 14
909 c FBL003 Fbln5-Related Cutis Laxa 8
910 GRS011 Gerstmann-Straussler Disease 54
911 CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 38
912 MNT302 Mental Retardation, X-Linked, Syndromic, Christianson Type 31
913 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 25
914 c HRD010 Hereditary Spastic Paraplegia 69
915 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 49
916 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 49
917 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 46
918 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 40
919 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 40
920 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 38
921 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 38
922 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 38
923 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 38
924 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 38
925 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 37
926 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 37
927 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 36
928 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 36
929 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 36
930 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 36
931 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
932 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 35
933 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 35
934 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 35
935 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 35
936 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
937 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 34
938 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 34
939 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 34
940 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 33
941 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 33
942 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 33
943 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 32
944 c SPS031 Spastic Paraplegia 23 31
945 P SPS012 Spastic Paraplegia 3a 31
946 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 31
947 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 31
948 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 31
949 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 30
950 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 30
951 c SPS039 Spastic Paraplegia 5a 29
952 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 29
953 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 29
954 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 28
955 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 28
956 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
957 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 28
958 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
959 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 28
960 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 28
961 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 28
962 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 28
963 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 27
964 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 27
965 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 27
966 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 26
967 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 26
968 c SPS036 Spastic Paraplegia 3 26
969 c SPS091 Spastic Paraplegia 4 26
970 c SPS021 Spastic Paraplegia 10 26
971 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 26
972 c HRD186 Hereditary Spastic Paraplegia 51 26
973 c SPS025 Spastic Paraplegia 15 25
974 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 25
975 P NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 25
976 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 25
977 c SPS027 Spastic Paraplegia 17 24
978 c SPS013 Spastic Paraplegia 8 23
979 c SPS020 Spastic Paraplegia 1 22
980 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 21
981 c SPS037 Spastic Paraplegia 31 21
982 c SPS041 Spastic Paraplegia 6 20
983 c NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 20
984 c SPS023 Spastic Paraplegia 13 19
985 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 19
986 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 19
987 c SPS028 Spastic Paraplegia 18 19
988 c SPS042 Spastic Paraplegia 9 18
989 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 18
990 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 18
991 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 18
992 c SPS034 Spastic Paraplegia 26 18
993 c SPS032 Spastic Paraplegia 24 18
994 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 18
995 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 17
996 c SPS029 Spastic Paraplegia 19 17
997 c SPS035 Spastic Paraplegia 29 17
998 c SPS033 Spastic Paraplegia 25 17
999 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 17
1000 c SPS026 Spastic Paraplegia 16 16
1001 c SPS080 Spastic Paraplegia 51 16
1002 c SPS161 Spastic Paraplegia 32 16
1003 c HRD188 Hereditary Spastic Paraplegia 72 16
1004 c SPS022 Spastic Paraplegia 12 16
1005 c SPS024 Spastic Paraplegia 14 15
1006 c SPS038 Spastic Paraplegia 39 15
1007 c SPS040 Spastic Paraplegia 5b 12
1008 c SPS230 Spastic Paraplegia Type 49 12
1009 c SPS165 Spastic Paraplegia 47 11
1010 GLL028 Gillespie Syndrome 33
1011 PRT055 Prieto X-Linked Mental Retardation Syndrome 30
1012 WSM002 Waisman Syndrome 25
1013 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 22
1014 MNT254 Mental Retardation Syndrome, Mietens-Weber Type 22
1015 XLN134 X-Linked Intellectual Disability, Siderius Type 19
1016 DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 18
1017 PCD002 Pcdh19-Related Female-Limited Epilepsy 17
1018 P RTT002 Rett Syndrome 83
1019 EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 44
1020 MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 26
1021 c MNT210 Mental Retardation, Autosomal Recessive 42 26
1022 c MNT295 Mental Retardation, X-Linked, Syndromic 33 25
1023 c RTT008 Rett Syndrome, Congenital Variant 23
1024 c CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 22
1025 WHT019 White-Sutton Syndrome 35
1026 XGB001 Xia-Gibbs Syndrome 31
1027 NRD057 Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects 22
1028 P GLY106 Glycosylphosphatidylinositol Biosynthesis Defect 11 19
1029 HLS003 Helsmoortel-Van Der Aa Syndrome 41
1030 c CFF009 Coffin-Siris Syndrome 4 40
1031 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 38
1032 MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 33
1033 c CFF010 Coffin-Siris Syndrome 3 33
1034 ALP094 Alpha Thalassemia-Intellectual Disability Syndrome Type 1 33
1035 c CFF007 Coffin-Siris Syndrome 2 29
1036 KHR001 Kahrizi Syndrome 21
1037 EPL170 Epilepsy-Aphasia Spectrum 20
1038 ALP067 Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome 20
1039 SCT004 Scott Bryant Graham Syndrome 17
1040 XLN197 X-Linked Intellectual Disability-Plagiocephaly Syndrome 16
1041 SHL003 Shoulder Girdle Defect Mental Retardation Familial 13
1042 ICH006 Ichthyosis Alopecia Eclabion Ectropion Mental Retardation 6
1043 OPT054 Opitz-Kaveggia Syndrome 48
1044 c MNT270 Mental Retardation, Autosomal Recessive 53 25
1045 c MNT262 Mental Retardation, Autosomal Dominant 42 24
1046 P MNT198 Mental Retardation, X-Linked 98 23
1047 MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 22
1048 c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 22
1049 MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 20
1050 DNT005 Dentatorubral-Pallidoluysian Atrophy 54
1051 PRN023 Prion Disease 53
1052 TMP011 Temple-Baraitser Syndrome 33
1053 c MNT248 Mental Retardation, X-Linked 102 27
1054 RNL120 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation 25
1055 c MNT325 Mental Retardation, Autosomal Recessive 61 24
1056 c MNT183 Mental Retardation, Autosomal Recessive 36 24
1057 TNN015 Tonne-Kalscheuer Syndrome 23
1058 MNT320 Mental Retardation, Autosomal Dominant 6, with or Without Seizures 20
1059 c MNT224 Mental Retardation, X-Linked 101 19
1060 MNT283 Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly 18
1061 c MNT218 Mental Retardation, X-Linked 99 18
1062 c MNT294 Mental Retardation, X-Linked 106 18
1063 c MNT223 Mental Retardation, X-Linked 100 17
1064 PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 16
1065 HMM004 Hamamy Syndrome 25
1066 CRN268 Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis 24
1067 SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 21
1068 RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 21
1069 BLP010 Blepharophimosis Intellectual Disability Syndromes 21
1070 RDL026 Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome 19
1071 MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 19
1072 ERL033 Early-Onset Parkinsonism-Intellectual Disability Syndrome 18
1073 ULN019 Ulna Hypoplasia-Intellectual Disability Syndrome 15
1074 HYD054 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 14
1075 TRN026 Tranebjaerg Svejgaard Syndrome 9
1076 INT288 Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome 8
1077 AKS001 Akesson Syndrome 6
1078 ALD006 Aldred Syndrome 6
1079 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 62
1080 P MCR010 Microcephaly 59
1081 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 59
1082 c SPN291 Spinocerebellar Ataxia 7 53
1083 c SPN314 Spinocerebellar Ataxia 10 50
1084 c SPN309 Spinocerebellar Ataxia 6 50
1085 c SPN293 Spinocerebellar Ataxia 12 49
1086 c RBN021 Rubinstein-Taybi Syndrome 1 48
1087 c SPN312 Spinocerebellar Ataxia 14 46
1088 c SPN100 Spinocerebellar Ataxia 27 45
1089 NCL006 Nicolaides-Baraitser Syndrome 45
1090 c SPN103 Spinocerebellar Ataxia 31 43
1091 c SPN097 Spinocerebellar Ataxia 23 43
1092 c SPN265 Spinocerebellar Ataxia 36 43
1093 c SPN305 Spinocerebellar Ataxia 11 42
1094 c SPN283 Spinocerebellar Ataxia 37 41
1095 c SPN290 Spinocerebellar Ataxia 15 41
1096 c PRM212 Primary Microcephaly 41
1097 c SPN308 Spinocerebellar Ataxia 28 41
1098 c SPN106 Spinocerebellar Ataxia 5 40
1099 c SPN304 Spinocerebellar Ataxia 8 39
1100 c MCR320 Microcephaly 17, Primary, Autosomal Recessive 39
1101 PSD088 Pseudobulbar Affect 39
1102 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 39
1103 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 38
1104 c MCR238 Microcephaly 7, Primary, Autosomal Recessive 38
1105 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 38
1106 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 38
1107 c SPN247 Spinocerebellar Ataxia Type 19/22 37
1108 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 37
1109 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 37
1110 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 37
1111 c SPN299 Spinocerebellar Ataxia 20 36
1112 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 36
1113 c SPN094 Spinocerebellar Ataxia 18 36
1114 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 36
1115 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 35
1116 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 35
1117 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 35
1118 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 35
1119 c PRM031 Primary Autosomal Recessive Microcephaly 34
1120 P MSC002 Muscular Dystrophy-Dystroglycanopathy 34
1121 c SPN266 Spinocerebellar Ataxia 35 34
1122 c SPN101 Spinocerebellar Ataxia 29 34
1123 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 33
1124 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 33
1125 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 33
1126 c SPN105 Spinocerebellar Ataxia 4 32
1127 c MCR329 Microcephaly, Autosomal Dominant 32
1128 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 32
1129 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 32
1130 c SPN095 Spinocerebellar Ataxia 19 32
1131 c SPN383 Spinocerebellar Ataxia 42 32
1132 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 32
1133 c SPN284 Spinocerebellar Ataxia 38 32
1134 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 32
1135 PRK087 Parkinson-Dementia Syndrome 32
1136 c SPN099 Spinocerebellar Ataxia 26 31
1137 TMT002 Temtamy Preaxial Brachydactyly Syndrome 31
1138 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 30
1139 c SPN104 Spinocerebellar Ataxia 34 30
1140 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 29
1141 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 29
1142 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 29
1143 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 28
1144 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 28
1145 c SPN098 Spinocerebellar Ataxia 25 27
1146 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
1147 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
1148 c SPN372 Spinocerebellar Ataxia 43 26
1149 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 26
1150 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 26
1151 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 26
1152 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 25
1153 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 25
1154 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 25
1155 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 25
1156 MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 25
1157 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 25
1158 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 25
1159 c SPN418 Spinocerebellar Ataxia 44 25
1160 c SPN286 Spinocerebellar Ataxia 40 24
1161 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24
1162 c SPN421 Spinocerebellar Ataxia 47 24
1163 EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 24
1164 c SPN323 Spinocerebellar Ataxia 41 23
1165 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 23
1166 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 23
1167 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 23
1168 c MCR269 Microcephaly 15, Primary, Autosomal Recessive 23
1169 c SPN102 Spinocerebellar Ataxia 30 23
1170 c SPN420 Spinocerebellar Ataxia 46 23
1171 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 22
1172 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 22
1173 c SPN419 Spinocerebellar Ataxia 45 22
1174 c SPN259 Spinocerebellar Ataxia 32 22
1175 c SPN427 Spinocerebellar Ataxia 48 22
1176 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 21
1177 c MCR360 Microcephaly 20, Primary, Autosomal Recessive 21
1178 c MCR356 Microcephaly 19, Primary, Autosomal Recessive 20
1179 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 20
1180 c SPN107 Spinocerebellar Ataxia 9 20
1181 c MCR361 Microcephaly 21, Primary, Autosomal Recessive 18
1182 c MCR362 Microcephaly 22, Primary, Autosomal Recessive 18
1183 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 17
1184 c MCR363 Microcephaly 23, Primary, Autosomal Recessive 16
1185 c MCR368 Microcephaly 24, Primary, Autosomal Recessive 16
1186 c GRD008 Grid2-Related Spinocerebellar Ataxia 11
1187 c MCR372 Microcephaly 25, Primary, Autosomal Recessive 10
1188 BRN045 Brunner Syndrome 46
1189 MRT007 Martsolf Syndrome 41
1190 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 26
1191 MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 22
1192 c MNT275 Mental Retardation, Autosomal Recessive 60 20
1193 c MNT267 Mental Retardation, X-Linked 104 19
1194 c MNT334 Mental Retardation, Autosomal Dominant 57 19
1195 SKL011 Skeletal Defects, Genital Hypoplasia, and Mental Retardation 18
1196 c MNT289 Mental Retardation, X-Linked 103 18
1197 c MNT333 Mental Retardation, X-Linked 107 16
1198 c MNT274 Mental Retardation, X-Linked 105 15
1199 MNT028 Mental Retardation Smith Fineman Myers Type 15
1200 ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 15
1201 MLP003 Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type 12
1202 PLT011 Pilotto Syndrome 9
1203 MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 7
1204 XLN132 X-Linked Intellectual Disability, Schimke Type 5
1205 DWN001 Down Syndrome 72
1206 OBS002 Obsessive-Compulsive Disorder 69
1207 P ATT013 Attention Deficit-Hyperactivity Disorder 67
1208 c CNG411 Congenital Disorder of Glycosylation, Type in 65
1209 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 64
1210 SLP005 Sleep Disorder 60
1211 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 60
1212 c TYR012 Tyrosinemia, Type I 56
1213 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
1214 WRN002 Wernicke-Korsakoff Syndrome 53
1215 c MCR256 Microphthalmia, Syndromic 9 52
1216 HYD061 Hydrocephalus, Normal-Pressure 52
1217 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 49
1218 P TYR004 Tyrosinemia 49
1219 P CNG412 Congenital Disorder of Glycosylation, Type Ii 49
1220 DBW001 Dubowitz Syndrome 47
1221 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
1222 c TYR013 Tyrosinemia, Type Ii 47
1223 WDM004 Wiedemann-Steiner Syndrome 44
1224 c TYR011 Tyrosinemia, Type Iii 44
1225 c CNG497 Congenital Disorder of Glycosylation, Type Iio 43
1226 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 42
1227 c CNG190 Congenital Disorder of Glycosylation, Type Iib 42
1228 c CNG204 Congenital Disorder of Glycosylation, Type Iih 41
1229 c MCR263 Microphthalmia, Syndromic 1 41
1230 c BRD015 Bardet-Biedl Syndrome 3 41
1231 OLV002 Oliver Syndrome 41
1232 c MCR261 Microphthalmia, Syndromic 2 41
1233 c CNG504 Congenital Disorder of Glycosylation, Type Iip 40
1234 c CNG203 Congenital Disorder of Glycosylation, Type Iii 40
1235 c CNG187 Congenital Disorder of Glycosylation, Type Iid 40
1236 P MCR241 Microphthalmia, Syndromic 3 40
1237 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
1238 c CNG389 Congenital Disorder of Glycosylation, Type Iim 40
1239 AYM001 Ayme-Gripp Syndrome 39
1240 c CNG201 Congenital Disorder of Glycosylation, Type Iij 39
1241 P MRN003 Marinesco-Sjogren Syndrome 39
1242 c CNG209 Congenital Disorder of Glycosylation, Type Iif 38
1243 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 38
1244 c CRD226 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive 38
1245 c CNG383 Congenital Disorder of Glycosylation, Type Iik 37
1246 c CNG197 Congenital Disorder of Glycosylation, Type Ih 36
1247 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
1248 c CRD239 Ceroid Lipofuscinosis, Neuronal, 13 36
1249 CHR662 Chromosome 15q13.3 Deletion Syndrome 35
1250 MST006 Mast Syndrome 34
1251 c CNG379 Congenital Disorder of Glycosylation, Type It 33
1252 c CNG195 Congenital Disorder of Glycosylation, Type Id 32
1253 c MCR251 Microphthalmia, Syndromic 6 31
1254 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
1255 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
1256 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
1257 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
1258 c CNG188 Congenital Disorder of Glycosylation, Type if 30
1259 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
1260 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
1261 PLL004 Pallister W Syndrome 29
1262 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
1263 c CNG194 Congenital Disorder of Glycosylation, Type Ig 29
1264 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
1265 BLB005 Beaulieu-Boycott-Innes Syndrome 28
1266 RMN002 Ramon Syndrome 28
1267 c CNG414 Congenital Disorder of Glycosylation, Type Iil 28
1268 c MCR245 Microphthalmia, Syndromic 8 28
1269 c CNG386 Congenital Disorder of Glycosylation, Type Iu 27
1270 c CNG378 Congenital Disorder of Glycosylation, Type Ir 27
1271 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 26
1272 c MCR252 Microphthalmia, Syndromic 5 26
1273 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
1274 c CNG498 Congenital Disorder of Glycosylation, Type Iin 26
1275 MGL027 Megalocornea-Intellectual Disability Syndrome 25
1276 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
1277 c MCR212 Microphthalmia, Syndromic 12 25
1278 c CNG193 Congenital Disorder of Glycosylation, Type Ip 24
1279 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
1280 c MCR228 Microphthalmia, Syndromic 13 24
1281 CLR029 Clark-Baraitser Syndrome 23
1282 CRN267 Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation 23
1283 P ALP068 Alopecia-Intellectual Disability Syndrome 22
1284 c MCR262 Microphthalmia, Syndromic 4 22
1285 c PRK008 Parkinson Disease Type 9 22
1286 MTP004 Metaphyseal Acroscyphodysplasia 22
1287 MCD002 Mcdonough Syndrome 22
1288 c MCR217 Microphthalmia, Syndromic 11 22
1289 LWR016 Lowry-Maclean Syndrome 21
1290 HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 21
1291 CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 21
1292 MCR052 Microcephaly Microcornea Syndrome Seemanova Type 21
1293 OCL043 Oculorenocerebellar Syndrome 20
1294 c MCR312 Microphthalmia, Syndromic 10 20
1295 c MNT339 Mental Retardation, Autosomal Recessive 66 20
1296 EPL162 Epilepsy-Telangiectasia 19
1297 5Q1001 5q14.3 Microdeletion Syndrome 19
1298 c BMN004 Biemond Syndrome Ii 19
1299 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 19
1300 DXT003 Dextrocardia with Unusual Facies and Microphthalmia 19
1301 KZL006 Kozlowski-Krajewska Syndrome 18
1302 LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 18
1303 MYT024 Myotonia with Skeletal Abnormalities and Mental Retardation 18
1304 SPS047 Spastic Paraplegia with Precocious Puberty 18
1305 UVL008 Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability 18
1306 BRC089 Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome 17
1307 SHR089 Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome 17
1308 XLN128 X-Linked Intellectual Disability, Abidi Type 16
1309 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 16
1310 LJN002 Lujan Syndrome 15
1311 EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 15
1312 INT286 Intellectual Disability-Spasticity-Ectrodactyly Syndrome 15
1313 c ATT020 Attention Deficit-Hyperactivity Disorder 2 15
1314 PSS001 Passos-Bueno Syndrome 14
1315 FTZ003 Fitzsimmons Syndrome 14
1316 WLM019 Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 14
1317 HRD179 Hair Defect-Photosensitivity-Intellectual Disability Syndrome 14
1318 P BMN001 Biemond Syndrome 14
1319 PLN009 Palant Cleft Palate Syndrome 13
1320 DVR003 Devriendt Syndrome 12
1321 CMR005 Camera-Marugo-Cohen Syndrome 12
1322 c ATT021 Attention Deficit-Hyperactivity Disorder 3 10
1323 c ATT022 Attention Deficit-Hyperactivity Disorder 4 10
1324 TNK001 Tonoki Syndrome 10
1325 c ATT019 Attention Deficit-Hyperactivity Disorder 1 10
1326 CHD003 Chudley Rozdilsky Syndrome 9
1327 c ALP081 Alopecia Intellectual Disability Syndrome 2 9
1328 c FCS008 Fucosidosis Type 1 9
1329 PFF002 Pfeiffer Kapferer Syndrome 8
1330 c PPP001 Ppp2r5d-Related Intellectual Disability 8
1331 KNR001 Koone Rizzo Elias Syndrome 8
1332 SNG001 Singh Chhaparwal Dhanda Syndrome 8
1333 FNG007 Feingold Trainer Syndrome 7
1334 MCR072 Microdontia Hypodontia Short Stature 7
1335 CNT052 Cantalamessa Baldini Ambrosi Syndrome 7
1336 PSS002 Piussan Lenaerts Mathieu Syndrome 7
1337 SPS183 Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome 7
1338 WLK002 Walker Dyson Syndrome 7
1339 SMM001 Sammartino Decreccio Syndrome 6
1340 KRN006 Karandikar Maria Kamble Syndrome 6
1341 CNT053 Cantu Sanchez-Corona Fragoso Syndrome 6
1342 KSZ002 Kosztolanyi Syndrome 6
1343 ZRR001 Zerres Rietschel Majewski Syndrome 6
1344 ZZM001 Zazam Sheriff Phillips Syndrome 6
1345 HRD065 Hordnes Engebretsen Knudtson Syndrome 6
1346 INT089 Intellectual Deficit - Short Stature - Hypertelorism 6
1347 CRT027 Cartwright Nelson Fryns Syndrome 6
1348 PFF003 Pfeiffer Mayer Syndrome 6
1349 RNL121 Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 6
1350 BDH001 Boudhina Yedes Khiari Syndrome 6
1351 KZL003 Kozlowski Ouvrier Syndrome 5
1352 AMY096 Amyloidosis of Gingiva and Conjunctiva with Intellectual Disability 5
1353 c MRN006 Marinesco-Sjogren-Like Syndrome 5
1354 PRG135 Progressive Dementia with Neuroserpin Inclusion Bodies 4
1355 MNT026 Mental Retardation Short Stature Microcephaly Eye 4
1356 KTS001 Katsantoni Papadakou Lagoyanni Syndrome 4
1357 DKR001 Duker Weiss Siber Syndrome 4
1358 CNT055 Cantu Sanchez-Corona Hernandez Syndrome 3
1359 c BMN003 Biemond Syndrome Type 1 3
1360 GRX001 Grix Blankenship Peterson Syndrome 3
1361 ANX010 Anxiety 73
1362 P SLP006 Sleep Apnea 70
1363 ALC007 Alcohol Dependence 70
1364 P JBR020 Joubert Syndrome 1 69
1365 APN008 Apnea, Obstructive Sleep 68
1366 ANR007 Anorexia Nervosa 68
1367 ETN001 Eating Disorder 65
1368 PST028 Post-Traumatic Stress Disorder 63
1369 P PNS012 Paine Syndrome 63
1370 BLM002 Bulimia Nervosa 61
1371 APH002 Aphasia 60
1372 P PNC025 Panic Disorder 57
1373 P STS008 Sotos Syndrome 1 55
1374 STT041 Stuttering 55
1375 BRX001 Bruxism 53
1376 LRN003 Learning Disability 53
1377 c LSS005 Lissencephaly 1 52
1378 P ASP001 Asperger Syndrome 51
1379 c CNG208 Congenital Disorder of Glycosylation, Type Iic 50
1380 P LSS002 Lissencephaly 49
1381 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 49
1382 NRT001 Neurotic Disorder 48
1383 P PLL002 Pellagra 46
1384 c PNC128 Pain - Chronic 46
1385 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 44
1386 HRT030 Hartsfield Syndrome 43
1387 BSL009 Basal Ganglia Calcification 43
1388 ALC001 Alcohol-Related Birth Defect 42
1389 RMN001 Rumination Disorder 42
1390 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 41
1391 HYP016 Hypochondriasis 41
1392 c JBR024 Joubert Syndrome 14 41
1393 CRB148 Cerebral Creatine Deficiency Syndrome 3 40
1394 PTC002 Potocki-Lupski Syndrome 40
1395 DPR002 Depersonalization Disorder 40
1396 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 40
1397 c BRD018 Bardet-Biedl Syndrome 6 40
1398 VSL003 Visual Agnosia 40
1399 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 39
1400 c JBR004 Joubert Syndrome 2 39
1401 MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 38
1402 c JBR015 Joubert Syndrome 6 38
1403 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 38
1404 CNC001 Cancerophobia 37
1405 TRN012 Transient Global Amnesia 37
1406 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 37
1407 c LSS006 Lissencephaly 2 37
1408 c BSL038 Basal Ganglia Calcification, Idiopathic, 1 37
1409 c SPL024 Split-Hand/foot Malformation 3 36
1410 DYS003 Dysgraphia 35
1411 P CRB154 Cerebrocostomandibular Syndrome 35
1412 P PRS013 Prosopagnosia 35
1413 P HYP111 Hyperprolinemia 35
1414 VSC004 Vasculogenic Impotence 34
1415 GLT019 Glut1 Deficiency Syndrome 2 34
1416 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 32
1417 DSS025 Dissociative Seizures 32
1418 MNC002 Munchausen by Proxy 32
1419 c JBR041 Joubert Syndrome 3 32
1420 c JBR025 Joubert Syndrome 17 31
1421 c BRD019 Bardet-Biedl Syndrome 7 30
1422 c JBR022 Joubert Syndrome 20 30
1423 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 30
1424 c JBR012 Joubert Syndrome 5 29
1425 c LSS010 Lissencephaly 4 29
1426 c STS007 Sotos Syndrome 2 29
1427 IMM056 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 29
1428 c NGH029 Night Blindness, Congenital Stationary, Type 1e 28
1429 c CNT068 Central Pain Syndrome 28
1430 c HYP248 Hyperprolinemia, Type I 27
1431 c JBR014 Joubert Syndrome 9 27
1432 c BRD021 Bardet-Biedl Syndrome 9 26
1433 c JBR026 Joubert Syndrome 15 26
1434 HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 26
1435 CMB002 Combat Disorder 26
1436 c JBR031 Joubert Syndrome 21 25
1437 c JBR016 Joubert Syndrome 10 25
1438 c JBR013 Joubert Syndrome 8 24
1439 c LSS025 Lissencephaly 5 24
1440 NRD028 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 24
1441 c PRK081 Parkinson Disease 19a, Juvenile-Onset 24
1442 c JBR011 Joubert Syndrome 7 24
1443 ELC001 Elective Mutism 24
1444 ALC002 Alcohol-Related Neurodevelopmental Disorder 24
1445 c JBR042 Joubert Syndrome 23 23
1446 c HYP597 Hyperprolinemia, Type Ii 23
1447 c JBR030 Joubert Syndrome 22 23
1448 c JBR018 Joubert Syndrome 4 23
1449 PRT001 Partial Fetal Alcohol Syndrome 23
1450 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 23
1451 c JBR037 Joubert Syndrome 26 22
1452 P ENC054 Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations 22
1453 c LSS035 Lissencephaly 8 22
1454 c LSS009 Lissencephaly 3 22
1455 c JBR021 Joubert Syndrome 18 22
1456 c JBR035 Joubert Syndrome 24 22
1457 c PRS058 Prosopagnosia, Hereditary 22
1458 DPR015 Depersonalization/derealization Disorder 21
1459 c JBR039 Joubert Syndrome 28 21
1460 c JBR040 Joubert Syndrome 30 21
1461 c JBR027 Joubert Syndrome 16 21
1462 c BSL035 Basal Ganglia Calcification, Idiopathic, 5 21
1463 SHH004 Shaheen Syndrome 21
1464 c ASP032 Asperger Syndrome 1 21
1465 c JBR043 Joubert Syndrome 32 21
1466 CMB083 Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia 20
1467 CLT002 Cluttering 20
1468 c MCR255 Microcephaly 9, Primary, Autosomal Recessive 20
1469 c BSL039 Basal Ganglia Calcification, Idiopathic, 6 20
1470 c ADV003 Advanced Sleep Phase Syndrome, Familial, 1 20
1471 c JBR045 Joubert Syndrome 33 20
1472 CRT007 Cortical Deafness 20
1473 c JBR036 Joubert Syndrome 25 19
1474 c JBR028 Joubert Syndrome 13 19
1475 c PLL014 Pellagra-Like Syndrome 19
1476 c JBR044 Joubert Syndrome 31 19
1477 c ATS358 Autism X-Linked 6 18
1478 c JBR038 Joubert Syndrome 27 18
1479 c STS009 Sotos Syndrome 3 18
1480 c ADV007 Advanced Sleep Phase Syndrome, Familial, 2 18
1481 c JBR047 Joubert Syndrome 35 18
1482 c BSL032 Basal Ganglia Calcification, Idiopathic, 4 18
1483 NRD025 Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations 17
1484 c PNC122 Panic Disorder 1 17
1485 c ASP031 Asperger Syndrome 2 17
1486 c ADV006 Advanced Sleep Phase Syndrome, Familial, 3 16
1487 P BSL046 Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive 15
1488 c BSL031 Basal Ganglia Calcification, Idiopathic, 2 13
1489 c MCP022 Mecp2-Related Severe Neonatal Encephalopathy 12
1490 c ASP033 Asperger Syndrome 3 12
1491 c PLY181 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 11
1492 c ASP034 Asperger Syndrome 4 11
1493 c PNC068 Panic Disorder 3 10
1494 c ADV008 Advanced Sleep Phase Syndrome 2 9
1495 VSL001 Visual Verbal Agnosia 9
1496 GNR012 Generalized Gangliosidoses 9
1497 c PNC070 Panic Disorder 2 9
1498 c CRB078 Cerebrocostomandibular-Like Syndrome 7
1499 FTL063 Fetal Nicotine Spectrum Disorder 3
1500 CWC001 Cowchock Syndrome 36
1501 P PLY180 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 47
1502 MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 22
1503 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 43
1504 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
1505 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 59
1506 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 52
1507 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 35
1508 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 34
1509 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 34
1510 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 33
1511 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 26
1512 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 26
1513 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 24
1514 CHR174 Christianson Syndrome 38
1515 PCK003 Pick Disease of Brain 66
1516 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 49
1517 c BRT038 Baraitser-Winter Syndrome 1 36
1518 P BRT040 Baraitser-Winter Syndrome 34
1519 c BRT039 Baraitser-Winter Syndrome 2 28
1520 DND017 Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures 18
1521 CRP036 Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome 18
1522 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 55
1523 P PTT014 Pitt-Hopkins Syndrome 54
1524 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 48
1525 c PTT029 Pitt-Hopkins-Like Syndrome 1 35
1526 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28
1527 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 27
1528 c PTT030 Pitt-Hopkins-Like Syndrome 2 24
1529 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 24
1530 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 20
1531 c PTT042 Pitt-Hopkins-Like Syndrome 17
1532 INS024 Insulin-Like Growth Factor I 83
1533 ACR008 Acrocallosal Syndrome 60
1534 c SPN311 Spinocerebellar Ataxia 13 45
1535 KFM001 Kaufman Oculocerebrofacial Syndrome 37
1536 c CHR630 Chorea, Benign Hereditary 35
1537 RCH002 Richards-Rundle Syndrome 30
1538 OPT062 Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures 17
1539 P CHR636 Chorea, Benign Familial 11
1540 ALX003 Alexander Disease 58
1541 PRR007 Perry Syndrome 51
1542 TMT003 Temtamy Syndrome 30
1543 c SPS092 Spastic Paraplegia 11 28
1544 CRD019 Cardiocranial Syndrome 12
1545 INT090 Intellectual Deficit Buenos-Aires Type 11
1546 LBN005 Lubani-Al Saleh-Teebi Syndrome 7
1547 P HNT016 Huntington Disease 74
1548 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 56
1549 P SJG002 Sjogren-Larsson Syndrome 52
1550 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 40
1551 c SJG003 Sjogren-Larsson-Like Syndrome 6
1552 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 57
1553 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 54
1554 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 43
1555 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 42
1556 MRS004 Marshall-Smith Syndrome 41
1557 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 38
1558 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 37
1559 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 33
1560 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 19
1561 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 19
1562 P MTC003 Metachromatic Leukodystrophy 71
1563 MYC079 Myoclonic Epilepsy of Lafora 60
1564 c SPN294 Spinocerebellar Ataxia 1 60
1565 P SPN301 Spinocerebellar Ataxia 2 60
1566 P SMP003 Simpson-Golabi-Behmel Syndrome 50
1567 P RSM001 Rasmussen Encephalitis 49
1568 KLN009 Kleine-Levin Hibernation Syndrome 49
1569 c SPN296 Spinocerebellar Ataxia 17 47
1570 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 47
1571 MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 46
1572 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 41
1573 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 39
1574 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 35
1575 SMT020 Smith-Kingsmore Syndrome 33
1576 c SPN096 Spinocerebellar Ataxia 21 32
1577 c MTC074 Metachromatic Leukodystrophy, Adult Form 29
1578 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 28
1579 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 28
1580 GRR002 Gurrieri Syndrome 24
1581 MD2001 Med23 24
1582 c RSM003 Rasmussen Subacute Encephalitis 23
1583 MCR066 Microcephaly-Cardiomyopathy 23
1584 MCR305 Microcephaly with Cervical Spine Fusion Anomalies 22
1585 XLN162 X-Linked Intellectual Disability, Najm Type 22
1586 MCR306 Microcephaly-Deafness Syndrome 21
1587 OST149 Osteolysis Syndrome, Recessive 19
1588 NRP046 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers 18
1589 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 18
1590 ADN078 Adnp Syndrome 17
1591 OST047 Osteopenia and Sparse Hair 17
1592 VND003 Van Den Bosch Syndrome 15
1593 KFF001 Kifafa Seizure Disorder 15
1594 HNT009 Hunter-Mcalpine Syndrome 14
1595 INT273 Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 13
1596 RRD001 Reardon Wilson Cavanagh Syndrome 11
1597 STB003 Setbp1 Disorder 10
1598 CDL001 Caudal Appendage Deafness 10
1599 c HVP001 Hivep2-Related Intellectual Disability 9
1600 BTT012 Battaglia-Neri Syndrome 8
1601 XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 8
1602 ART113 Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability 8
1603 WDM002 Wiedemann Oldigs Oppermann Syndrome 6
1604 KZN001 Kuzniecky Andermann Syndrome 4
1605 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 69
1606 LGH007 Leigh Syndrome 66
1607 P CCK001 Cockayne Syndrome 66
1608 GLC006 Galactosemia 65
1609 P FTL001 Fetal Alcohol Syndrome 64
1610 P NRN021 Neuronal Ceroid Lipofuscinosis 62
1611 c BRD014 Bardet-Biedl Syndrome 2 61
1612 P FCS002 Fucosidosis 60
1613 P NRC002 Narcolepsy 59
1614 c BRD010 Bardet-Biedl Syndrome 1 58
1615 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 54
1616 APR001 Apraxia 54
1617 P SLL003 Salla Disease 53
1618 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 53
1619 c NRC009 Narcolepsy 1 51
1620 c CCK008 Cockayne Syndrome a 51
1621 c CCK007 Cockayne Syndrome B 51
1622 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 47
1623 LRN001 Laurence-Moon Syndrome 46
1624 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 46
1625 ANP006 Anaplastic Ependymoma 46
1626 c BRD016 Bardet-Biedl Syndrome 4 46
1627 CRB150 Cerebral Creatine Deficiency Syndrome 2 46
1628 BHR002 Bohring-Opitz Syndrome 45
1629 P LSS036 Lissencephaly, X-Linked, 1 45
1630 VNC001 Von Economo's Disease 43
1631 CNV002 Conversion Disorder 43
1632 c PNT034 Pontocerebellar Hypoplasia, Type 2e 43
1633 KLV001 Kluver-Bucy Syndrome 41
1634 P ANX007 Anauxetic Dysplasia 1 39
1635 GLT018 Glut1 Deficiency Syndrome 1 39
1636 KRT013 Keratolytic Winter Erythema 37
1637 P ADV001 Advanced Sleep Phase Syndrome 36
1638 c NRC010 Narcolepsy 2 36
1639 P PRR025 Perrault Syndrome 34
1640 c PRR020 Perrault Syndrome 1 33
1641 c PRK085 Parkinson Disease 1, Autosomal Dominant 32
1642 c LSS037 Lissencephaly, X-Linked, 2 32
1643 c CCK002 Cockayne Syndrome Type I 31
1644 MCR025 Microhydranencephaly 30
1645 c CCK003 Cockayne Syndrome Type Ii 30
1646 GRN004 Granulomatous Amebic Encephalitis 30
1647 SML010 Simultanagnosia 28
1648 CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 28
1649 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 27
1650 c CRD225 Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant 27
1651 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27
1652 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 26
1653 c PRR026 Perrault Syndrome 5 26
1654 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 26
1655 c CCK004 Cockayne Syndrome Type Iii 26
1656 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 25
1657 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 25
1658 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 24
1659 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 22
1660 c PRR024 Perrault Syndrome 3 22
1661 c PRR021 Perrault Syndrome 4 21
1662 c ANX008 Anauxetic Dysplasia 2 19
1663 c ATS268 Autism X-Linked 4 19
1664 c NRC017 Narcolepsy 7 18
1665 c PRR022 Perrault Syndrome 2 18
1666 c PRR033 Perrault Syndrome 6 18
1667 c NRC011 Narcolepsy 3 17
1668 c NRC012 Narcolepsy 4 12
1669 c NRC013 Narcolepsy 5 12
1670 c NRC018 Narcolepsy 6 11
1671 c INT094 Intermediate Severe Salla Disease 10
1672 LKN025 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 55
1673 CRT072 Creutzfeldt-Jakob Disease 68
1674 c AMY091 Amyotrophic Lateral Sclerosis 1 90
1675 ENC039 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 43
1676 BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 26
1677 c WRB002 Warburg Micro Syndrome 1 43
1678 BHR001 Behr Syndrome 37
1679 FTL002 Fatal Familial Insomnia 50
1680 c DFN036 Deafness, X-Linked 2 35
1681 MMS001 Momo Syndrome 30
1682 c DFN105 Deafness, X-Linked 5 25
1683 c DFN276 Deafness, X-Linked 6 21
1684 P XLN004 X-Linked Nonsyndromic Deafness 20
1685 c DFN147 Deafness, X-Linked 4 20
1686 c DFN194 Deafness, X-Linked 1 19
1687 c DFN146 Deafness, X-Linked 3 17
1688 c DFN370 Deafness, X-Linked 7 16
1689 c DFN186 Deafness, Y-Linked 1 15
1690 P MPL001 Maple Syrup Urine Disease 64
1691 WVR001 Weaver Syndrome 61
1692 c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 61
1693 HPT019 Hepatic Encephalopathy 60
1694 P TRC102 Trichothiodystrophy 1, Photosensitive 59
1695 c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 44
1696 c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 43
1697 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 37
1698 WYB002 Wyburn-Mason Syndrome 32
1699 ZTT001 Zttk Syndrome 27
1700 2Q3001 2q37 Deletion Syndrome 24
1701 c INT262 Intermediate Maple Syrup Urine Disease 22
1702 c TRC100 Trichothiodystrophy 3, Photosensitive 22
1703 FKY002 Fukuyama Type Muscular Dystrophy 20
1704 c TRC099 Trichothiodystrophy 2, Photosensitive 17
1705 RMS002 Ramos Arroyo Clark Syndrome 9
1706 BRN028 Brain Cancer 74
1707 VSC007 Vascular Disease 72
1708 GLL008 Gilles De La Tourette Syndrome 69
1709 P AGN002 Agnosia 62
1710 c MNN047 Mannosidosis, Alpha B, Lysosomal 58
1711 ARS001 Aarskog-Scott Syndrome 57
1712 SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 54
1713 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 50
1714 c FTL006 Fetal Alcohol Spectrum Disorder 50
1715 P NRD007 Neurodegeneration with Brain Iron Accumulation 49
1716 INS023 Insensitivity to Pain, Congenital, with Anhidrosis 48
1717 P MNN019 Mannosidosis, Beta a, Lysosomal 47
1718 TRC010 Trichotillomania 47
1719 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 47
1720 PNN005 Panencephalitis, Subacute Sclerosing 47
1721 c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 46
1722 PRM175 Primary Familial Brain Calcification 44
1723 P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 41
1724 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 37
1725 CRP033 Corpus Callosum, Agenesis of, with Abnormal Genitalia 36
1726 ADL060 Adult Polyglucosan Body Disease 32
1727 DGL002 D-Glyceric Aciduria 29
1728 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 29
1729 c MCR331 Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii 27
1730 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 57
1731 MTH026 Methemoglobinemia Due to Deficiency of Methemoglobin Reductase 32



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