Mental Diseases Category (1762 diseases)


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

# Family MCID Name MIFTS
1 P CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 40
2 GRN014 Grn-Related Frontotemporal Dementia 40
3 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 40
4 P FRN044 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 56
5 AMY027 Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 40
6 FRN030 Frontotemporal Dementia with Parkinsonism-17 25
7 CHM002 Chmp2b-Related Frontotemporal Dementia 17
8 c HYP553 Hyperphosphatasia with Mental Retardation Syndrome 3 22
9 BHV002 Behavioral Variant of Frontotemporal Dementia 49
10 SMN008 Semantic Dementia 46
11 MNT056 Mental Retardation, X-Linked, Syndromic, Nascimento Type 26
12 RTN207 Retinopathy, Pigmentary, and Mental Retardation 17
13 KHL003 Kohlschutter-Tonz Syndrome 63
14 MNT310 Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 37
15 SPN350 Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration 13
16 c MNT155 Mental Retardation, Autosomal Recessive 2 23
17 P ERL057 Early Infantile Epileptic Encephalopathy 60
18 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 50
19 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 44
20 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 41
21 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 38
22 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 38
23 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 37
24 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 37
25 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 37
26 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 36
27 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 35
28 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 35
29 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 34
30 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 33
31 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 31
32 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 29
33 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 28
34 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 28
35 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 28
36 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 27
37 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 27
38 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 27
39 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 27
40 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 26
41 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 26
42 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 26
43 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 26
44 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 25
45 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 25
46 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 25
47 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 25
48 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 25
49 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 25
50 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 24
51 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 24
52 c EPL240 Epileptic Encephalopathy, Early Infantile, 75 24
53 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 24
54 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 24
55 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 24
56 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 24
57 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 24
58 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 24
59 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 23
60 c EPL233 Epileptic Encephalopathy, Early Infantile, 69 23
61 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 23
62 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 23
63 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 23
64 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 23
65 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 23
66 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 23
67 c EPL234 Epileptic Encephalopathy, Early Infantile, 70 23
68 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 22
69 c EPL232 Epileptic Encephalopathy, Early Infantile, 68 22
70 c EPL241 Epileptic Encephalopathy, Early Infantile, 76 22
71 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 22
72 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 22
73 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 22
74 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 22
75 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 22
76 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 21
77 c EPL235 Epileptic Encephalopathy, Early Infantile, 71 21
78 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 21
79 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 21
80 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 21
81 c EPL238 Epileptic Encephalopathy, Early Infantile, 73 21
82 c EPL239 Epileptic Encephalopathy, Early Infantile, 74 20
83 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 20
84 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 20
85 c EPL237 Epileptic Encephalopathy, Early Infantile, 72 20
86 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 20
87 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 19
88 GRS011 Gerstmann-Straussler Disease 54
89 c AMY107 Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia 26
90 STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 23
91 c CRB195 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 23
92 ADS004 Aids Dementia Complex 41
93 XLN134 X-Linked Intellectual Disability, Siderius Type 24
94 DMN012 Dementia - Subcortical 22
95 DRM023 Dermoodontodysplasia 20
96 MNT028 Mental Retardation Smith Fineman Myers Type 15
97 c SPS020 Spastic Paraplegia 1 22
98 CTR173 Cataract, Ataxia, Short Stature, and Mental Retardation 14
99 PRS056 Presenile Dementia, Kraepelin Type 11
100 BRK002 Birk-Barel Syndrome 39
101 DNT005 Dentatorubral-Pallidoluysian Atrophy 55
102 KFR001 Kufor-Rakeb Syndrome 54
103 c INC031 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 32
104 P SPN202 Spinocerebellar Ataxia, X-Linked 1 30
105 c AMY104 Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia 25
106 c MNT321 Mental Retardation, Autosomal Recessive 37 23
107 MNT057 Mental Retardation, X-Linked, Syndromic, Raymond Type 21
108 c SPN364 Spinocerebellar Ataxia, X-Linked 3 20
109 c SPN203 Spinocerebellar Ataxia, X-Linked 5 17
110 AMY102 Amyotrophic Lateral Sclerosis, Juvenile, with Dementia 17
111 c SPN363 Spinocerebellar Ataxia, X-Linked 4 17
112 c SPN403 Spinocerebellar Ataxia, X-Linked 2 13
113 BNS003 Binswanger's Disease 43
114 P AMY106 Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia 39
115 c MJR003 Major Affective Disorder 6 34
116 c MJR006 Major Affective Disorder 5 34
117 c MJR004 Major Affective Disorder 4 29
118 MNT257 Mental Retardation, X-Linked, with Craniofacial Dysmorphism 15
119 SCT004 Scott Bryant Graham Syndrome 15
120 THM007 Thumb Stiff Brachydactyly Mental Retardation 3
121 DPR016 Depression 64
122 CHR543 Chromosome 2q37 Deletion Syndrome 35
123 c FRN040 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 30
124 DMN026 Dementia Pugilistica 28
125 c FRN043 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 28
126 c FRN045 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 27
127 c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 25
128 c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 23
129 P ALP076 Alopecia-Mental Retardation Syndrome 1 20
130 P INC029 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 37
131 c INC015 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 37
132 TMP011 Temple-Baraitser Syndrome 34
133 c MJR023 Major Affective Disorder 7 34
134 c AMY099 Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia 28
135 OHD003 Ohdo Syndrome, X-Linked 28
136 c AMY105 Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia 28
137 c MNT176 Mental Retardation, Autosomal Recessive 38 23
138 c MNT227 Mental Retardation, Autosomal Recessive 46 21
139 P HYP830 Hypomagnesemia, Seizures, and Mental Retardation 1 20
140 c MNT336 Mental Retardation, Autosomal Recessive 64 19
141 c HYP834 Hypomagnesemia, Seizures, and Mental Retardation 2 19
142 c MNT215 Mental Retardation, Autosomal Recessive 43 17
143 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 52
144 CRB193 Cerebral Amyloid Angiopathy, App-Related 47
145 c MJR024 Major Affective Disorder 9 42
146 TMT002 Temtamy Preaxial Brachydactyly Syndrome 39
147 c MJR022 Major Affective Disorder 8 39
148 P GLY103 Glycosylphosphatidylinositol Biosynthesis Defect 15 22
149 c AMY074 Amyotrophic Lateral Sclerosis Type 14 22
150 c GLY108 Glycosylphosphatidylinositol Biosynthesis Defect 18 20
151 c GLY107 Glycosylphosphatidylinositol Biosynthesis Defect 17 20
152 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 20
153 c GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 19
154 P MNT312 Mental Health Wellness 1 16
155 ULN022 Ulnar Hypoplasia with Mental Retardation 15
156 c MJR021 Major Affective Disorder 3 14
157 KCN019 Kcnk9 Imprinting Syndrome 14
158 SPN347 Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 14
159 WLF012 Wolff Mental Retardation Syndrome 14
160 RDL026 Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome 13
161 VNS015 Van Esch-O'driscoll Syndrome 13
162 MNT039 Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 11
163 c MNT313 Mental Health Wellness 2 10
164 TRN026 Tranebjaerg Svejgaard Syndrome 9
165 ULN019 Ulna Hypoplasia-Intellectual Disability Syndrome 9
166 AKS001 Akesson Syndrome 5
167 CNG099 Congenital Heart Disease Radio Ulnar Synostosis Mental Retardation 3
168 CRN064 Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation 2
169 EPL007 Epilepsy Mental Deterioration Finnish Type 2
170 BRN045 Brunner Syndrome 57
171 c RBN021 Rubinstein-Taybi Syndrome 1 55
172 PSD088 Pseudobulbar Affect 37
173 SBC025 Subcortical Arteriosclerotic Encephalopathy 20
174 MNT306 Mental Retardation, X-Linked, Syndromic, Houge Type 18
175 P RBN007 Rubinstein Taybi Like Syndrome 6
176 CLF027 Cleft Palate, Isolated 67
177 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 33
178 c MNT287 Mental Retardation, Autosomal Recessive 57 24
179 CLF050 Cleft Palate, Cardiac Defects, and Mental Retardation 24
180 RCH010 Richieri-Costa/guion-Almeida Syndrome 24
181 c MNT282 Mental Retardation, Autosomal Recessive 55 23
182 c MNT337 Mental Retardation, Autosomal Dominant 58 21
183 P INT336 Intellectual Developmental Disorder, Autosomal Recessive 68 19
184 c MNT263 Mental Retardation, Autosomal Recessive 51 18
185 MNT331 Mental Retardation, Autosomal Dominant 55, with Seizures 17
186 c MNT277 Mental Retardation, Autosomal Recessive 54 17
187 c MNT281 Mental Retardation, Autosomal Recessive 59 16
188 XLN132 X-Linked Intellectual Disability, Schimke Type 4
189 P PRK057 Parkinson Disease, Late-Onset 77
190 P DMN002 Dementia 68
191 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 67
192 P MCR256 Microphthalmia, Syndromic 9 59
193 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 57
194 P MRN003 Marinesco-Sjogren Syndrome 53
195 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 48
196 P OLV001 Olivopontocerebellar Atrophy 48
197 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 47
198 CLB026 Colobomatous Microphthalmia 47
199 WDM004 Wiedemann-Steiner Syndrome 44
200 c MCR261 Microphthalmia, Syndromic 2 44
201 c MCR241 Microphthalmia, Syndromic 3 43
202 DBW001 Dubowitz Syndrome 42
203 c HRD173 Hereditary Late-Onset Parkinson Disease 41
204 OLV002 Oliver Syndrome 41
205 c PRK090 Parkinson Disease 3, Autosomal Dominant 39
206 c MCR263 Microphthalmia, Syndromic 1 39
207 c PRK093 Parkinson Disease 8, Autosomal Dominant 39
208 c ERL056 Early-Onset Parkinson's Disease 38
209 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 37
210 c PRK065 Parkinson Disease 20, Early-Onset 35
211 c PRK071 Parkinson Disease 14, Autosomal Recessive 34
212 c MCR312 Microphthalmia, Syndromic 10 34
213 c PRK025 Parkinson Disease 10 34
214 c MCR251 Microphthalmia, Syndromic 6 34
215 c MCR245 Microphthalmia, Syndromic 8 33
216 c MCR252 Microphthalmia, Syndromic 5 32
217 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 31
218 c AMY023 Amyotrophic Lateral Sclerosis Type 6 29
219 c CRB170 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 28
220 c PRK052 Parkinson Disease 17 28
221 CHR669 Chromosome 2p16.3 Deletion Syndrome 27
222 c PRK091 Parkinson Disease 4, Autosomal Dominant 27
223 PLL004 Pallister W Syndrome 27
224 c MCR212 Microphthalmia, Syndromic 12 26
225 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 25
226 c PRK098 Parkinson Disease 5, Autosomal Dominant 25
227 c PRK094 Parkinson Disease 11, Autosomal Dominant 25
228 c MCR262 Microphthalmia, Syndromic 4 24
229 c PRK070 Parkinson Disease 21 24
230 c PRK096 Parkinson Disease 13, Autosomal Dominant 23
231 c PRK099 Parkinson Disease 18, Autosomal Dominant 23
232 ALP085 Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 23
233 c PRK083 Parkinson Disease 22, Autosomal Dominant 23
234 c MCR228 Microphthalmia, Syndromic 13 23
235 MCD002 Mcdonough Syndrome 22
236 c MCR217 Microphthalmia, Syndromic 11 21
237 c JVN058 Juvenile-Onset Parkinson's Disease 21
238 c PRK022 Parkinson Disease 12 21
239 c PRK008 Parkinson Disease Type 9 21
240 MNT256 Mental Retardation, Buenos Aires Type 21
241 LWR016 Lowry-Maclean Syndrome 21
242 CHR397 Chromosome Xp11.3 Deletion Syndrome 21
243 CLR029 Clark-Baraitser Syndrome 21
244 MCR052 Microcephaly Microcornea Syndrome Seemanova Type 18
245 MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 18
246 P ALP068 Alopecia-Intellectual Disability Syndrome 18
247 c PRK058 Parkinson Disease 16 17
248 BRC121 Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation 17
249 OHD002 Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant 17
250 MRF017 Marfanoid Mental Retardation Syndrome, Autosomal 17
251 CHM001 Cahmr Syndrome 15
252 ARL006 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 15
253 SPS047 Spastic Paraplegia with Precocious Puberty 15
254 MNT030 Mental Retardation Syndrome, Belgian Type 15
255 CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 15
256 c MNT163 Mental Retardation, Autosomal Recessive 30 15
257 c MNT162 Mental Retardation, Autosomal Recessive 24 15
258 ART029 Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 15
259 BRC089 Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome 14
260 c AMY079 Amyotrophic Lateral Sclerosis Type 15 14
261 c MNT165 Mental Retardation, Autosomal Recessive 28 14
262 c ALP075 Alopecia-Mental Retardation Syndrome 2 14
263 MNT315 Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 14
264 c OLV005 Olivopontocerebellar Atrophy V 14
265 HRD035 Hair Defect with Photosensitivity and Mental Retardation 14
266 c MNT205 Mental Retardation, X-Linked 42 13
267 C9R002 C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia 13
268 PLN009 Palant Cleft Palate Syndrome 13
269 CMR005 Camera-Marugo-Cohen Syndrome 12
270 DVR003 Devriendt Syndrome 12
271 OHD001 Ohdo Syndrome, Maat-Kievit-Brunner Type 12
272 HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 11
273 c OLV006 Olivopontocerebellar Atrophy Ii, Autosomal Recessive 11
274 c AMY109 Amyotrophic Lateral Sclerosis Type 22 10
275 HYP816 Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes 9
276 CTR179 Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy 9
277 ART055 Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies 9
278 MNT250 Mental Retardation with Spastic Paraplegia 9
279 CHD003 Chudley Rozdilsky Syndrome 9
280 PRN067 Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 8
281 AMY015 Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 8
282 c FCS008 Fucosidosis Type 1 8
283 c MRN006 Marinesco-Sjogren-Like Syndrome 8
284 VTL010 Vitiligo, Progressive, with Mental Retardation and Urethral Duplication 8
285 DMN041 Dementia/parkinsonism with Non-Alzheimer Amyloid Plaques 8
286 KNR001 Koone Rizzo Elias Syndrome 8
287 SPS217 Spastic Paraplegia, Optic Atrophy, and Dementia 8
288 HYP783 Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 8
289 P ATX048 Ataxia with Dementia 7
290 ATX043 Ataxia with Myoclonic Epilepsy and Presenile Dementia 7
291 PSS002 Piussan Lenaerts Mathieu Syndrome 7
292 ZZM001 Zazam Sheriff Phillips Syndrome 7
293 DKR001 Duker Weiss Siber Syndrome 6
294 SHR110 Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 6
295 FNG007 Feingold Trainer Syndrome 6
296 HRD065 Hordnes Engebretsen Knudtson Syndrome 6
297 KSZ002 Kosztolanyi Syndrome 6
298 MCR344 Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 5
299 FRN054 Frontotemporal Degeneration with Dementia 5
300 MCR342 Microcephaly, Macrotia, and Mental Retardation 4
301 GNT105 Genetic Dementia 4
302 c INF189 Infectious Disease with Dementia 3
303 MTB017 Metabolic Disease with Dementia 3
304 OBS133 Obsolete: Atrichia-Mental and Growth Delay Syndrome 3
305 c LTN027 Late-Onset Ataxia with Dementia 3
306 c ERL061 Early-Onset Ataxia with Dementia 3
307 CRB214 Cerebral Lipidosis with Dementia 3
308 GNT109 Genetic Frontotemporal Degeneration with Dementia 2
309 OBS490 Obsolete: Genetic Cerebrovascular Dementia 2
310 TBC004 Tobacco Addiction 65
311 P ALC033 Alcohol Use Disorder 58
312 VSC002 Vascular Dementia 57
313 P SBS003 Substance Abuse 56
314 P TCD001 Tic Disorder 55
315 AMN003 Amnestic Disorder 55
316 END040 Endogenous Depression 55
317 GNR004 Generalized Anxiety Disorder 55
318 IMP005 Impotence 53
319 CND002 Conduct Disorder 52
320 PNG002 Pain Agnosia 52
321 PST021 Postpartum Depression 51
322 BRD004 Borderline Personality Disorder 51
323 OPT003 Opiate Dependence 50
324 OPP004 Oppositional Defiant Disorder 50
325 SXL003 Sexual Disorder 49
326 SCH003 Schizophreniform Disorder 49
327 SCL003 Social Phobia 49
328 PTH002 Pathological Gambling 48
329 CCN001 Cocaine Dependence 48
330 SBS004 Substance Dependence 48
331 c HNT004 Huntington Disease-Like 2 48
332 CCN002 Cocaine Abuse 48
333 DRG003 Drug Dependence 48
334 DYS009 Dysthymic Disorder 48
335 WTH001 Withdrawal Disorder 47
336 ANT011 Antisocial Personality Disorder 47
337 SPC010 Speech and Communication Disorders 46
338 AVD001 Avoidant Personality Disorder 45
339 SMT001 Somatization Disorder 45
340 c BRD018 Bardet-Biedl Syndrome 6 45
341 SPC005 Speech Disorder 44
342 c SCH079 Schizophrenia 1 44
343 AGR002 Agoraphobia 44
344 PRM003 Premature Ejaculation 44
345 c ERL020 Early-Onset Schizophrenia 44
346 DLY008 Delayed Sleep Phase Disorder 43
347 IMP006 Impulse Control Disorder 43
348 MTS001 Mutism 43
349 SBC016 Subacute Delirium 43
350 RMS001 Rem Sleep Behavior Disorder 43
351 GND002 Gender Identity Disorder 43
352 ACT084 Acute Stress Disorder 42
353 OPD001 Opioid Abuse 42
354 PHB001 Phobic Disorder 42
355 OBS003 Obsessive-Compulsive Personality Disorder 42
356 RDN001 Reading Disorder 42
357 CNN001 Cannabis Dependence 41
358 ATY001 Atypical Depressive Disorder 41
359 TRN007 Transsexualism 41
360 c MLT010 Multiple Personality Disorder 41
361 MRP001 Morphine Dependence 41
362 ALX001 Alexia 41
363 HRN003 Heroin Dependence 41
364 c SCH082 Schizophrenia 5 40
365 ECH002 Echolalia 40
366 INT025 Intermittent Explosive Disorder 40
367 CNN002 Cannabis Abuse 40
368 PRD002 Periodic Limb Movement Disorder 40
369 c AMY069 Amyotrophic Lateral Sclerosis 21 40
370 ALX002 Alexithymia 40
371 CHR590 Chromosome 15q11-Q13 Duplication Syndrome 39
372 AMP007 Amphetamine Abuse 39
373 HYP030 Hypoactive Sexual Desire Disorder 39
374 PHB003 Phobia, Specific 39
375 ADJ001 Adjustment Disorder 38
376 AGR018 Agraphia 38
377 P SYN057 Syndromic Intellectual Disability 38
378 NNT008 Neonatal Abstinence Syndrome 38
379 RTR001 Retrograde Amnesia 38
380 MLN003 Melancholia 38
381 KLP001 Kleptomania 37
382 NMN001 Nominal Aphasia 37
383 DRG001 Drug Psychosis 36
384 SPR012 Separation Anxiety Disorder 36
385 SCH011 Schizotypal Personality Disorder 36
386 IDM001 Ideomotor Apraxia 35
387 ANT019 Anterograde Amnesia 35
388 PHN001 Phencyclidine Abuse 35
389 DSS010 Dissociative Disorder 35
390 P SPC019 Specific Language Impairment 34
391 TRN012 Transient Global Amnesia 34
392 c SCH080 Schizophrenia 3 34
393 c CHR056 Chronic Tic Disorder 34
394 STR015 Stereotypic Movement Disorder 34
395 DPN001 Dependent Personality Disorder 34
396 CYC005 Cyclothymic Disorder 34
397 PCD001 Pica Disease 33
398 NRC003 Narcissistic Personality Disorder 33
399 ART014 Articulation Disorder 32
400 PDP001 Pedophilia 32
401 FCT008 Factitious Disorder 32
402 c SCK010 Seckel Syndrome 4 32
403 PSY003 Psychosexual Disorder 32
404 c SCK011 Seckel Syndrome 5 31
405 DYS004 Dyscalculia 31
406 SCH004 Schizoid Personality Disorder 30
407 DSS002 Dissociative Amnesia 30
408 c ALC016 Alcohol Sensitivity, Acute 30
409 EXH001 Exhibitionism 30
410 GTP001 Gait Apraxia 29
411 MNC002 Munchausen by Proxy 29
412 ALC003 Alcoholic Psychosis 29
413 c SCH064 Schizophrenia 10 29
414 SPC003 Specific Developmental Disorder 29
415 HST001 Histrionic Personality Disorder 28
416 P NNS031 Non-Syndromic Intellectual Disability 28
417 PRP015 Paraphilia Disorder 27
418 AMS001 Amusia 27
419 c ATS367 Autism X-Linked 3 27
420 SBS005 Substance-Induced Psychosis 26
421 EXP001 Expressive Language Disorder 26
422 TRN006 Transvestism 26
423 FTS001 Fetishism 26
424 NSP004 Nosophobia 25
425 ATY003 Atypical Autism 25
426 MXD044 Mixed Sleep Apnea 25
427 c SCH083 Schizophrenia 7 23
428 CPG001 Capgras Syndrome 23
429 TCT002 Tactile Agnosia 21
430 ANM002 Animal Phobia 21
431 HLL005 Hallucinogen Dependence 21
432 DPR015 Depersonalization/derealization Disorder 21
433 SXL001 Sexual Sadism 20
434 c SCH052 Schizophrenia 14 20
435 FNG001 Finger Agnosia 20
436 PYR003 Pyromania 20
437 WRT002 Writing Disorder 19
438 c SYN082 Syndromic X-Linked Intellectual Disability 14 19
439 c SPC027 Specific Language Impairment 1 18
440 SXL002 Sexual Masochism 18
441 c SPC023 Specific Language Impairment 5 18
442 AST004 Astereognosia 17
443 VYR001 Voyeurism 17
444 c FRM002 Form Agnosia 17
445 FLY001 Flying Phobia 16
446 ATT001 Autotopagnosia 16
447 BRB002 Barbiturate Dependence 15
448 VRB001 Verbal Auditory Agnosia 15
449 c TRN005 Transient Tic Disorder 15
450 ASS001 Associative Agnosia 14
451 c SPC028 Specific Language Impairment 2 14
452 APP006 Apperceptive Agnosia 14
453 BST003 Bestiality 14
454 AKN001 Akinetopsia 12
455 ADS003 Aids Phobia 12
456 c SPC015 Specific Language Impairment 4 12
457 MXD002 Mixed Receptive-Expressive Language Disorder 12
458 c SPC029 Specific Language Impairment 3 11
459 PHN002 Phonagnosia 11
460 HLL002 Hallucinogen Abuse 11
461 INT031 Integrative Agnosia 10
462 BRB003 Barbiturate Abuse 10
463 c TSB001 T-Substance Anomaly 9
464 c RRD051 Rare Dementia 9
465 TPG001 Topographical Agnosia 9
466 PSY001 Psychologic Vaginismus 9
467 MRR002 Mirror Agnosia 8
468 CLR009 Color Agnosia 8
469 PSY002 Psychologic Dyspareunia 6
470 EGD001 Ego-Dystonic Sexual Orientation 5
471 SCL006 Social Emotional Agnosia 5
472 TMG001 Time Agnosia 5
473 SMN003 Semantic Agnosia 4
474 ANT016 Antidepressant Type Abuse 4
475 c RRS015 Rare Syndromic Intellectual Disability 4
476 MNT304 Mental Retardation, X-Linked, with or Without Seizures, Arx-Related 32
477 MNT303 Mental Retardation, X-Linked, Syndromic, Cabezas Type 40
478 P CRB185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 45
479 MSS001 Masa Syndrome 55
480 c MNT301 Mental Retardation, X-Linked 21 28
481 CRP034 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 22
482 CRB151 Cerebral Creatine Deficiency Syndrome 1 51
483 CHR639 Chromosome Xp11.22 Duplication Syndrome 18
484 ALP025 Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 16
485 P PLY180 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 50
486 c MNT305 Mental Retardation, X-Linked 12 25
487 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66
488 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 64
489 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 59
490 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 39
491 WCK001 Wieacker-Wolff Syndrome 39
492 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 37
493 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 37
494 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 37
495 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 32
496 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 30
497 RYN006 Raynaud-Claes Syndrome 28
498 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 27
499 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 6
500 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 6
501 RLN001 Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 23
502 P HYP441 Hyperphosphatasia with Mental Retardation Syndrome 1 37
503 LJN003 Lujan-Fryns Syndrome 32
504 c MNT200 Mental Retardation, X-Linked 97 22
505 c MNT196 Mental Retardation, X-Linked 92 19
506 P HRD021 Hereditary Sensory Neuropathy 47
507 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 46
508 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 44
509 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 43
510 CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 39
511 MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 37
512 c NRP036 Neuropathy, Hereditary Sensory, Type if 27
513 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 25
514 c NRP039 Neuropathy, Hereditary Sensory, Type Id 22
515 EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 65
516 MNT302 Mental Retardation, X-Linked, Syndromic, Christianson Type 34
517 MNT307 Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 27
518 P ATS366 Autism X-Linked 2 43
519 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 22
520 MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 22
521 GLL028 Gillespie Syndrome 39
522 WSM002 Waisman Syndrome 27
523 c MNT210 Mental Retardation, Autosomal Recessive 42 26
524 MNT254 Mental Retardation Syndrome, Mietens-Weber Type 21
525 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 17
526 PCD002 Pcdh19-Related Female-Limited Epilepsy 15
527 MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 28
528 c CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 25
529 c MNT295 Mental Retardation, X-Linked, Syndromic 33 23
530 c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 22
531 CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 27
532 P NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 27
533 MNT320 Mental Retardation, Autosomal Dominant 6, with or Without Seizures 26
534 c MNT150 Mental Retardation, Autosomal Recessive 15 24
535 c CFF014 Coffin-Siris Syndrome 9 22
536 c NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 22
537 c GLY106 Glycosylphosphatidylinositol Biosynthesis Defect 11 22
538 c MNT151 Mental Retardation, Autosomal Recessive 18 20
539 c MNT154 Mental Retardation, Autosomal Recessive 14 19
540 OPT054 Opitz-Kaveggia Syndrome 49
541 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 45
542 NRD057 Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects 28
543 HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 28
544 KHR001 Kahrizi Syndrome 24
545 FLL034 Fallot Complex with Severe Mental and Growth Retardation 18
546 DND017 Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures 17
547 ABD008 Abidi X-Linked Mental Retardation Syndrome 16
548 ALP067 Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome 14
549 CRN293 Craniosynostosis-Mental Retardation-Clefting Syndrome 12
550 XLN197 X-Linked Intellectual Disability-Plagiocephaly Syndrome 11
551 ICH006 Ichthyosis Alopecia Eclabion Ectropion Mental Retardation 6
552 INS024 Insulin-Like Growth Factor I 79
553 P MNT198 Mental Retardation, X-Linked 98 30
554 MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 27
555 MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 26
556 c MNT270 Mental Retardation, Autosomal Recessive 53 26
557 c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 25
558 MNT107 Mental Retardation, Fra12a Type 19
559 P HNT016 Huntington Disease 72
560 ACR008 Acrocallosal Syndrome 66
561 P PRN023 Prion Disease 57
562 c HNT010 Huntington Disease-Like 1 49
563 c SPN311 Spinocerebellar Ataxia 13 45
564 c CHR630 Chorea, Benign Hereditary 39
565 c HNT011 Huntington Disease-Like 3 37
566 c MNT248 Mental Retardation, X-Linked 102 30
567 RNL120 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation 27
568 TNN015 Tonne-Kalscheuer Syndrome 26
569 BLP010 Blepharophimosis Intellectual Disability Syndromes 25
570 c MNT145 Mental Retardation, Autosomal Recessive 5 25
571 c MNT213 Mental Retardation, Autosomal Recessive 40 25
572 c MNT216 Mental Retardation, Autosomal Recessive 41 25
573 c MNT166 Mental Retardation, Autosomal Recessive 39 24
574 c MNT183 Mental Retardation, Autosomal Recessive 36 24
575 c JVN015 Juvenile Huntington Disease 23
576 c MNT218 Mental Retardation, X-Linked 99 22
577 c MNT224 Mental Retardation, X-Linked 101 22
578 c MNT244 Mental Retardation, Autosomal Recessive 49 22
579 AMM001 Amme Complex 21
580 c MNT177 Mental Retardation, Autosomal Recessive 27 21
581 c MNT221 Mental Retardation, Autosomal Recessive 44 20
582 c HNT013 Huntington Disease-Like Syndrome 20
583 c MNT195 Mental Retardation, X-Linked 96 20
584 c MNT234 Mental Retardation, Autosomal Recessive 48 20
585 c MNT223 Mental Retardation, X-Linked 100 20
586 MNT283 Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly 19
587 c INH025 Inherited Prion Disease 19
588 c MNT225 Mental Retardation, Autosomal Recessive 47 18
589 c MNT220 Mental Retardation, Autosomal Recessive 45 18
590 c MNT243 Mental Retardation, Autosomal Recessive 50 18
591 PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 17
592 c MNT264 Mental Retardation, Autosomal Recessive 52 16
593 c HNT014 Huntington Disease-Like Syndrome Due to C9orf72 Expansions 12
594 P CHR636 Chorea, Benign Familial 11
595 ALD006 Aldred Syndrome 6
596 PRR007 Perry Syndrome 54
597 CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 43
598 OHD004 Ohdo Syndrome 43
599 CKS001 Ck Syndrome 31
600 SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 27
601 c SPS092 Spastic Paraplegia 11 26
602 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 24
603 HYD054 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 24
604 EPL170 Epilepsy-Aphasia Spectrum 21
605 RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 20
606 RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 18
607 BLP044 Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 18
608 HLL013 Hall-Riggs Mental Retardation Syndrome 17
609 GMS002 Gms Syndrome 17
610 LMB066 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 16
611 MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 16
612 MNT311 Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration 16
613 PTR031 Pterygium Colli and Mental Retardation with Facial and Digital Anomalies 16
614 PGN002 Paganini-Miozzo Syndrome 15
615 ERL033 Early-Onset Parkinsonism-Intellectual Disability Syndrome 15
616 SPS218 Spastic Diplegia and Mental Retardation 14
617 SCH022 Schimke X-Linked Mental Retardation Syndrome 14
618 STB003 Setbp1 Disorder 12
619 INT090 Intellectual Deficit Buenos-Aires Type 11
620 INT288 Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome 11
621 CTS013 Cutis Verticis Gyrata Mental Deficiency 7
622 PTR009 Pterygium Colli Mental Retardation Digital Anomalies 5
623 PRT057 Proteus Like Syndrome Mental Retardation Eye Defect 3
624 ALX003 Alexander Disease 58
625 P MCR010 Microcephaly 56
626 c PRM031 Primary Autosomal Recessive Microcephaly 47
627 NCL006 Nicolaides-Baraitser Syndrome 45
628 MRT007 Martsolf Syndrome 45
629 c MCR238 Microcephaly 7, Primary, Autosomal Recessive 42
630 c PRM212 Primary Microcephaly 42
631 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 41
632 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 41
633 c MCR320 Microcephaly 17, Primary, Autosomal Recessive 40
634 ART103 Arthrogryposis, Mental Retardation, and Seizures 39
635 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 38
636 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 35
637 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 35
638 TMT003 Temtamy Syndrome 35
639 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 33
640 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 31
641 c MCR329 Microcephaly, Autosomal Dominant 28
642 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 28
643 EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 28
644 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 28
645 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 27
646 MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 26
647 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 25
648 FGS004 Fg Syndrome 4 25
649 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 25
650 c MCR269 Microcephaly 15, Primary, Autosomal Recessive 24
651 c MCR360 Microcephaly 20, Primary, Autosomal Recessive 23
652 c MCR362 Microcephaly 22, Primary, Autosomal Recessive 20
653 c MCR356 Microcephaly 19, Primary, Autosomal Recessive 20
654 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 20
655 c MCR361 Microcephaly 21, Primary, Autosomal Recessive 20
656 c MCR372 Microcephaly 25, Primary, Autosomal Recessive 19
657 SKL011 Skeletal Defects, Genital Hypoplasia, and Mental Retardation 19
658 c MCR368 Microcephaly 24, Primary, Autosomal Recessive 18
659 c MCR363 Microcephaly 23, Primary, Autosomal Recessive 18
660 SBN004 Sabinas Brittle Hair Syndrome 16
661 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 62
662 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 58
663 P SPN301 Spinocerebellar Ataxia 2 55
664 MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 52
665 HYD061 Hydrocephalus, Normal-Pressure 49
666 JWD001 Jawad Syndrome 41
667 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 33
668 SFR001 Sifrim-Hitz-Weiss Syndrome 25
669 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 24
670 c MNT334 Mental Retardation, Autosomal Dominant 57 23
671 MNT118 Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 23
672 c MNT267 Mental Retardation, X-Linked 104 23
673 MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 22
674 c MNT338 Mental Retardation, Autosomal Recessive 65 21
675 c MNT339 Mental Retardation, Autosomal Recessive 66 20
676 c MNT289 Mental Retardation, X-Linked 103 20
677 c MNT274 Mental Retardation, X-Linked 105 20
678 c MNT285 Mental Retardation, Autosomal Recessive 58 20
679 c MNT333 Mental Retardation, X-Linked 107 19
680 INT342 Intellectual Developmental Disorder, X-Linked 108 19
681 c MNT275 Mental Retardation, Autosomal Recessive 60 19
682 CRB158 Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 18
683 MCR370 Macrocephaly, Acquired, with Impaired Intellectual Development 18
684 c INT345 Intellectual Developmental Disorder, Autosomal Recessive 70 17
685 c MNT335 Mental Retardation, Autosomal Recessive 63 17
686 c INT344 Intellectual Developmental Disorder, Autosomal Recessive 69 17
687 c MNT284 Mental Retardation, Autosomal Recessive 56 16
688 c INT335 Intellectual Developmental Disorder, Autosomal Recessive 67 16
689 MLP003 Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type 10
690 PLT011 Pilotto Syndrome 9
691 MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 7
692 P MTC003 Metachromatic Leukodystrophy 69
693 c HRD010 Hereditary Spastic Paraplegia 67
694 c CNG411 Congenital Disorder of Glycosylation, Type in 66
695 P NRN021 Neuronal Ceroid Lipofuscinosis 63
696 P CTS001 Cutis Laxa 60
697 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 59
698 LKN001 Leukoencephalopathy with Vanishing White Matter 57
699 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 57
700 c SPN294 Spinocerebellar Ataxia 1 55
701 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
702 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 54
703 c CNG412 Congenital Disorder of Glycosylation, Type Ii 52
704 P GNT009 Giant Axonal Neuropathy 52
705 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 51
706 c SPN312 Spinocerebellar Ataxia 14 51
707 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 50
708 c SPN309 Spinocerebellar Ataxia 6 50
709 c SPN291 Spinocerebellar Ataxia 7 49
710 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 49
711 c ATS393 Autosomal Recessive Cutis Laxa Type I 49
712 c CNG389 Congenital Disorder of Glycosylation, Type Iim 48
713 c SPN314 Spinocerebellar Ataxia 10 48
714 c CNG206 Congenital Disorder of Glycosylation, Type Ie 48
715 WRN002 Wernicke-Korsakoff Syndrome 48
716 c SPN296 Spinocerebellar Ataxia 17 47
717 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
718 P PLL002 Pellagra 47
719 AYM001 Ayme-Gripp Syndrome 45
720 c TYR013 Tyrosinemia, Type Ii 45
721 c BRD015 Bardet-Biedl Syndrome 3 45
722 c SPN308 Spinocerebellar Ataxia 28 44
723 c CTS045 Cutis Laxa, Autosomal Dominant 1 44
724 c SPN100 Spinocerebellar Ataxia 27 44
725 c SPN097 Spinocerebellar Ataxia 23 44
726 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 42
727 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 42
728 c SPN305 Spinocerebellar Ataxia 11 42
729 c CNG189 Congenital Disorder of Glycosylation, Type Ib 42
730 c SPN103 Spinocerebellar Ataxia 31 42
731 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 42
732 c CNG190 Congenital Disorder of Glycosylation, Type Iib 41
733 c SPN106 Spinocerebellar Ataxia 5 41
734 c SPN290 Spinocerebellar Ataxia 15 41
735 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 41
736 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 41
737 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 41
738 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 41
739 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
740 c CNG204 Congenital Disorder of Glycosylation, Type Iih 41
741 CHR662 Chromosome 15q13.3 Deletion Syndrome 40
742 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 40
743 c CNG497 Congenital Disorder of Glycosylation, Type Iio 40
744 c GNT049 Giant Axonal Neuropathy 1, Autosomal Recessive 40
745 c CNG197 Congenital Disorder of Glycosylation, Type Ih 40
746 c CNG504 Congenital Disorder of Glycosylation, Type Iip 40
747 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 40
748 c SPN265 Spinocerebellar Ataxia 36 39
749 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 39
750 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 39
751 c SPN304 Spinocerebellar Ataxia 8 39
752 c CNG201 Congenital Disorder of Glycosylation, Type Iij 39
753 c CNG209 Congenital Disorder of Glycosylation, Type Iif 38
754 c SPN283 Spinocerebellar Ataxia 37 38
755 c CRD239 Ceroid Lipofuscinosis, Neuronal, 13 38
756 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 38
757 c CNG194 Congenital Disorder of Glycosylation, Type Ig 38
758 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 38
759 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 37
760 c CNG383 Congenital Disorder of Glycosylation, Type Iik 37
761 c SPN293 Spinocerebellar Ataxia 12 37
762 SMT020 Smith-Kingsmore Syndrome 37
763 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 37
764 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 37
765 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
766 SPS226 Spastic Paraplegia, Ataxia, and Mental Retardation 37
767 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 37
768 c SPN101 Spinocerebellar Ataxia 29 37
769 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 37
770 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 36
771 MST006 Mast Syndrome 36
772 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 36
773 c CNG187 Congenital Disorder of Glycosylation, Type Iid 36
774 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 36
775 c CNG379 Congenital Disorder of Glycosylation, Type It 36
776 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 35
777 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
778 c CNG195 Congenital Disorder of Glycosylation, Type Id 35
779 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 35
780 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 35
781 c SPN095 Spinocerebellar Ataxia 19 35
782 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 35
783 c CNG199 Congenital Disorder of Glycosylation, Type Im 35
784 c SPN266 Spinocerebellar Ataxia 35 35
785 c SPS021 Spastic Paraplegia 10 35
786 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 34
787 c SPN096 Spinocerebellar Ataxia 21 34
788 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 34
789 c CNG498 Congenital Disorder of Glycosylation, Type Iin 34
790 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
791 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 34
792 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 34
793 c CNG205 Congenital Disorder of Glycosylation, Type Ij 34
794 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 34
795 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 33
796 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
797 c CNG192 Congenital Disorder of Glycosylation, Type Ik 33
798 c CNG200 Congenital Disorder of Glycosylation, Type Iq 33
799 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 33
800 c SPN099 Spinocerebellar Ataxia 26 32
801 NSY001 N Syndrome 32
802 c SPN104 Spinocerebellar Ataxia 34 32
803 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 32
804 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 32
805 c SPN299 Spinocerebellar Ataxia 20 32
806 c CNG198 Congenital Disorder of Glycosylation, Type Il 32
807 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 32
808 c SPN094 Spinocerebellar Ataxia 18 31
809 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 31
810 c SPS025 Spastic Paraplegia 15 31
811 c CNG386 Congenital Disorder of Glycosylation, Type Iu 31
812 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 31
813 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 31
814 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 31
815 c SPS036 Spastic Paraplegia 3 31
816 c SPN284 Spinocerebellar Ataxia 38 31
817 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 31
818 c SPN383 Spinocerebellar Ataxia 42 30
819 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 30
820 c SPS013 Spastic Paraplegia 8 30
821 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
822 c CNG188 Congenital Disorder of Glycosylation, Type if 30
823 c CNG403 Congenital Disorder of Glycosylation, Type Ix 30
824 c CNG193 Congenital Disorder of Glycosylation, Type Ip 30
825 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 30
826 c SPN286 Spinocerebellar Ataxia 40 30
827 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 30
828 c CNG414 Congenital Disorder of Glycosylation, Type Iil 29
829 c SPS091 Spastic Paraplegia 4 29
830 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
831 c SPN105 Spinocerebellar Ataxia 4 28
832 c CNG185 Congenital Disorder of Glycosylation, Type Iig 28
833 c CTS031 Cutis Laxa, Autosomal Dominant 2 28
834 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 28
835 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
836 c SPS039 Spastic Paraplegia 5a 28
837 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 28
838 c SPN247 Spinocerebellar Ataxia Type 19/22 28
839 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
840 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 27
841 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
842 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 27
843 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 27
844 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 27
845 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 27
846 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 27
847 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 27
848 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 27
849 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 27
850 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 26
851 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
852 c CTS041 Cutis Laxa, Autosomal Dominant 3 26
853 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 26
854 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 26
855 P SPS012 Spastic Paraplegia 3a 26
856 c SPS041 Spastic Paraplegia 6 26
857 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 26
858 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 26
859 MGL033 Megalocornea-Mental Retardation Syndrome 26
860 c ACQ027 Acquired Cutis Laxa 26
861 c SPN098 Spinocerebellar Ataxia 25 26
862 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 25
863 c SPN418 Spinocerebellar Ataxia 44 25
864 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 25
865 MD2001 Med23 25
866 c SPN427 Spinocerebellar Ataxia 48 25
867 c MTC074 Metachromatic Leukodystrophy, Adult Form 25
868 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 25
869 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 25
870 RMN002 Ramon Syndrome 25
871 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
872 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 24
873 SPN368 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 24
874 c SPN421 Spinocerebellar Ataxia 47 24
875 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 24
876 c GNT040 Giant Axonal Neuropathy 2, Autosomal Dominant 24
877 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 24
878 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24
879 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 24
880 c SPS027 Spastic Paraplegia 17 24
881 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 23
882 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 23
883 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 23
884 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 23
885 c SPN372 Spinocerebellar Ataxia 43 23
886 c SPN323 Spinocerebellar Ataxia 41 23
887 c SPN419 Spinocerebellar Ataxia 45 22
888 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 22
889 c SPS042 Spastic Paraplegia 9 22
890 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 22
891 c ATS451 Autosomal Recessive Cutis Laxa Type 2 22
892 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 21
893 c SPN420 Spinocerebellar Ataxia 46 21
894 MTP004 Metaphyseal Acroscyphodysplasia 21
895 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 21
896 c SPS023 Spastic Paraplegia 13 21
897 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 21
898 c HRD186 Hereditary Spastic Paraplegia 51 20
899 GRR002 Gurrieri Syndrome 20
900 MGL027 Megalocornea-Intellectual Disability Syndrome 20
901 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 20
902 c SPN102 Spinocerebellar Ataxia 30 20
903 c SPS037 Spastic Paraplegia 31 20
904 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 19
905 MCR305 Microcephaly with Cervical Spine Fusion Anomalies 19
906 RSS027 Russell-Silver Syndrome, X-Linked 19
907 c SPS038 Spastic Paraplegia 39 19
908 c HRD188 Hereditary Spastic Paraplegia 72 19
909 c SPS022 Spastic Paraplegia 12 19
910 c SPS028 Spastic Paraplegia 18 18
911 c SPN259 Spinocerebellar Ataxia 32 18
912 OCL043 Oculorenocerebellar Syndrome 18
913 PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 18
914 c SPS034 Spastic Paraplegia 26 18
915 c MNT194 Mental Retardation, X-Linked 50 18
916 c MNT247 Mental Retardation, X-Linked 73 18
917 c MNT181 Mental Retardation, Autosomal Recessive 35 17
918 XLN162 X-Linked Intellectual Disability, Najm Type 17
919 c MNT204 Mental Retardation, X-Linked 23 17
920 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 17
921 EPL162 Epilepsy-Telangiectasia 17
922 INT343 Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects 17
923 ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 17
924 c SPN107 Spinocerebellar Ataxia 9 17
925 c PLL014 Pellagra-Like Syndrome 16
926 5Q1001 5q14.3 Microdeletion Syndrome 16
927 HYP688 Hypospadias-Mental Retardation Syndrome 16
928 c MNT172 Mental Retardation, Autosomal Recessive 25 16
929 MNT255 Mental Retardation and Psoriasis 16
930 LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 16
931 KZL006 Kozlowski-Krajewska Syndrome 16
932 VND003 Van Den Bosch Syndrome 16
933 SPS194 Spastic Paresis, Glaucoma, and Mental Retardation 16
934 MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 16
935 DXT003 Dextrocardia with Unusual Facies and Microphthalmia 15
936 CHR580 Choroid Plexus Calcification and Mental Retardation 15
937 EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 15
938 ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 15
939 c MNT202 Mental Retardation, X-Linked 53 15
940 SYN073 Syngap1-Related Intellectual Disability 15
941 c MNT161 Mental Retardation, Autosomal Recessive 29 15
942 c MNT180 Mental Retardation, Autosomal Recessive 33 15
943 SPN344 Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 15
944 c SPS032 Spastic Paraplegia 24 15
945 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 15
946 c MNT182 Mental Retardation, Autosomal Recessive 19 14
947 OPH013 Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency 14
948 c HRD210 Hereditary Spastic Paraplegia 23 14
949 INT273 Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 14
950 c INT348 Intellectual Developmental Disorder, Autosomal Recessive 71 14
951 c MNT170 Mental Retardation, Autosomal Recessive 23 14
952 c MNT167 Mental Retardation, Autosomal Recessive 16 14
953 DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 14
954 CTS046 Cutis Verticis Gyrata and Mental Retardation 14
955 c ALP063 Alopecia-Mental Retardation Syndrome 3 14
956 HNT009 Hunter-Mcalpine Syndrome 14
957 c SPS029 Spastic Paraplegia 19 14
958 SPS195 Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 13
959 KFF001 Kifafa Seizure Disorder 13
960 c MNT160 Mental Retardation, Autosomal Recessive 31 13
961 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 13
962 c SPS035 Spastic Paraplegia 29 13
963 FTZ003 Fitzsimmons Syndrome 13
964 c SPS161 Spastic Paraplegia 32 13
965 SPS193 Spastic Paraplegia, Epilepsy, and Mental Retardation 13
966 SHR089 Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome 13
967 c SPS033 Spastic Paraplegia 25 13
968 c SPS080 Spastic Paraplegia 51 12
969 c SPS024 Spastic Paraplegia 14 12
970 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 12
971 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 12
972 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 12
973 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 12
974 c SPS165 Spastic Paraplegia 47 12
975 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 12
976 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 12
977 CRM012 Cree Mental Retardation Syndrome 12
978 ECT104 Ectodermal Dysplasia with Mental Retardation and Syndactyly 12
979 MTR081 Motor Neuron Disease with Dementia and Ophthalmoplegia 11
980 c SPS230 Spastic Paraplegia Type 49 11
981 EHL082 Ehlers-Danlos Syndrome, Beasley-Cohen Type 11
982 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 11
983 TNK001 Tonoki Syndrome 11
984 c GNT045 Giant Axonal Neuropathy 2 11
985 c SPS026 Spastic Paraplegia 16 11
986 MND028 Mandibulofacial Dysostosis with Mental Retardation 11
987 CRN103 Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 11
988 DWR021 Dwarfism, Mental Retardation, and Eye Abnormality 11
989 INT286 Intellectual Disability-Spasticity-Ectrodactyly Syndrome 11
990 STR104 Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Facial Features 10
991 PRK068 Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments 10
992 HVP001 Hivep2-Related Intellectual Disability 10
993 ART149 Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies 9
994 c ALP081 Alopecia Intellectual Disability Syndrome 2 9
995 HRD179 Hair Defect-Photosensitivity-Intellectual Disability Syndrome 9
996 SYN070 Syngap1-Related Non-Syndromic Intellectual Disability 9
997 FCL076 Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 9
998 BDH001 Boudhina Yedes Khiari Syndrome 9
999 c INT349 Intellectual Developmental Disorder 59 9
1000 SCR041 Sucrosuria, Hiatus Hernia and Mental Retardation 8
1001 MNT299 Mental and Growth Retardation with Amblyopia 8
1002 DSL004 Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 8
1003 NRD075 Neurodegenerative Disease with Dementia 8
1004 CTS047 Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation 8
1005 SPN397 Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 8
1006 PFF003 Pfeiffer Mayer Syndrome 7
1007 SNG001 Singh Chhaparwal Dhanda Syndrome 7
1008 EPL197 Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation 7
1009 IND013 Indolylacroyl Glycinuria with Mental Retardation 7
1010 BTT012 Battaglia-Neri Syndrome 7
1011 CNT052 Cantalamessa Baldini Ambrosi Syndrome 7
1012 WLK002 Walker Dyson Syndrome 7
1013 c SPS040 Spastic Paraplegia 5b 7
1014 PSD115 Pseudouridinuria and Mental Defect 7
1015 ZRR001 Zerres Rietschel Majewski Syndrome 7
1016 MCR072 Microdontia Hypodontia Short Stature 6
1017 SPS183 Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome 6
1018 P DSR041 Disorder of Multiple Glycosylation 6
1019 FBR095 Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation 6
1020 CNT053 Cantu Sanchez-Corona Fragoso Syndrome 6
1021 CRT027 Cartwright Nelson Fryns Syndrome 6
1022 KZL003 Kozlowski Ouvrier Syndrome 6
1023 SMM001 Sammartino Decreccio Syndrome 5
1024 ANM047 Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/mental Retardation Syndrome 5
1025 EMP013 Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation 5
1026 INT089 Intellectual Deficit - Short Stature - Hypertelorism 5
1027 KTS001 Katsantoni Papadakou Lagoyanni Syndrome 5
1028 KZN001 Kuzniecky Andermann Syndrome 4
1029 PPP001 Ppp2r5d-Related Intellectual Disability 4
1030 AMY096 Amyloidosis of Gingiva and Conjunctiva with Intellectual Disability 4
1031 PRG135 Progressive Dementia with Neuroserpin Inclusion Bodies 4
1032 GRX001 Grix Blankenship Peterson Syndrome 3
1033 RRC034 Rare Cerebrovascular Dementia 3
1034 CNT055 Cantu Sanchez-Corona Hernandez Syndrome 3
1035 GNT110 Genetic Neurodegenerative Disease with Dementia 3
1036 ANX010 Anxiety 75
1037 c ATS007 Autism Spectrum Disorder 69
1038 P ATS364 Autism 68
1039 ALC007 Alcohol Dependence 68
1040 P BRD002 Bardet-Biedl Syndrome 66
1041 ANR007 Anorexia Nervosa 64
1042 P KBK002 Kabuki Syndrome 1 64
1043 MDD011 Mood Disorder 62
1044 c PNS012 Paine Syndrome 61
1045 c PRX045 Peroxisome Biogenesis Disorder 1b 61
1046 c BRD010 Bardet-Biedl Syndrome 1 61
1047 PST028 Post-Traumatic Stress Disorder 60
1048 P PRV006 Pervasive Developmental Disorder 58
1049 P FCS002 Fucosidosis 58
1050 c PRX059 Peroxisome Biogenesis Disorder 1a 57
1051 P SCK004 Seckel Syndrome 57
1052 APH002 Aphasia 56
1053 BLM002 Bulimia Nervosa 56
1054 c LSS005 Lissencephaly 1 54
1055 NRT001 Neurotic Disorder 53
1056 P CHR345 Chronic Pain 52
1057 LRN003 Learning Disability 51
1058 P LSS002 Lissencephaly 51
1059 APR001 Apraxia 50
1060 BRX001 Bruxism 49
1061 c CNT015 Central Sleep Apnea 48
1062 c BPL002 Bipolar I Disorder 48
1063 c SCK009 Seckel Syndrome 1 47
1064 PRN009 Paranoid Schizophrenia 47
1065 P KLF001 Kleefstra Syndrome 46
1066 WDM005 Wiedemann-Rautenstrauch Syndrome 46
1067 c BRD013 Bardet-Biedl Syndrome 12 46
1068 c BRD044 Bardet-Biedl Syndrome 17 45
1069 PTC002 Potocki-Lupski Syndrome 45
1070 c BRD020 Bardet-Biedl Syndrome 8 45
1071 c BRD033 Bardet-Biedl Syndrome 13 44
1072 P MJR007 Major Affective Disorder 1 44
1073 DLS001 Delusional Disorder 44
1074 c PNT049 Pontocerebellar Hypoplasia, Type 2d 44
1075 c LSS006 Lissencephaly 2 43
1076 c BRD012 Bardet-Biedl Syndrome 11 43
1077 c BRD011 Bardet-Biedl Syndrome 10 43
1078 HYP016 Hypochondriasis 42
1079 P HYP263 Hypersomnia 42
1080 c BRD017 Bardet-Biedl Syndrome 5 42
1081 P DYS005 Dyslexia 42
1082 DND001 Dandy-Walker Syndrome 41
1083 CHL012 Childhood Disintegrative Disease 41
1084 BSL009 Basal Ganglia Calcification 41
1085 CRB148 Cerebral Creatine Deficiency Syndrome 3 41
1086 c BRD048 Bardet-Biedl Syndrome 18 40
1087 c BRD035 Bardet-Biedl Syndrome 15 39
1088 c KLF004 Kleefstra Syndrome 1 38
1089 P ADV001 Advanced Sleep Phase Syndrome 38
1090 BDY001 Body Dysmorphic Disorder 38
1091 c BRD047 Bardet-Biedl Syndrome 16 37
1092 c RCR002 Recurrent Hypersomnia 37
1093 DVL001 Developmental Coordination Disorder 36
1094 c SPL034 Split-Hand/foot Malformation 4 36
1095 ANS006 Anosognosia 36
1096 c MJR008 Major Affective Disorder 2 35
1097 c NGH029 Night Blindness, Congenital Stationary, Type 1e 35
1098 DYS003 Dysgraphia 34
1099 RMN001 Rumination Disorder 34
1100 ALC001 Alcohol-Related Birth Defect 34
1101 c BRD045 Bardet-Biedl Syndrome 19 33
1102 VSC004 Vasculogenic Impotence 33
1103 c LSS010 Lissencephaly 4 33
1104 c ADV003 Advanced Sleep Phase Syndrome, Familial, 1 33
1105 VSL003 Visual Agnosia 32
1106 c PRX060 Peroxisome Biogenesis Disorder 5a 31
1107 c PRX051 Peroxisome Biogenesis Disorder 6a 31
1108 c PRX057 Peroxisome Biogenesis Disorder 4a 30
1109 c CNT068 Central Pain Syndrome 30
1110 c PRX065 Peroxisome Biogenesis Disorder 3a 30
1111 c PRX054 Peroxisome Biogenesis Disorder 12a 30
1112 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 30
1113 WTS001 Watson Syndrome 29
1114 c PRX063 Peroxisome Biogenesis Disorder 2a 29
1115 c KBK003 Kabuki Syndrome 2 29
1116 CNC001 Cancerophobia 29
1117 c PRX056 Peroxisome Biogenesis Disorder 11b 29
1118 c PRX050 Peroxisome Biogenesis Disorder 9b 29
1119 c PRX055 Peroxisome Biogenesis Disorder 11a 29
1120 c ATS371 Autism 6 28
1121 c LSS009 Lissencephaly 3 28
1122 c PRX043 Peroxisome Biogenesis Disorder 6b 28
1123 c PRX048 Peroxisome Biogenesis Disorder 10a 28
1124 c PRX046 Peroxisome Biogenesis Disorder 7a 27
1125 c PRX053 Peroxisome Biogenesis Disorder 14b 27
1126 c ATS376 Autism 15 27
1127 c ATS173 Autism 18 27
1128 ALC002 Alcohol-Related Neurodevelopmental Disorder 27
1129 c SCH081 Schizophrenia 6 27
1130 c BRD050 Bardet-Biedl Syndrome 21 27
1131 c PRX047 Peroxisome Biogenesis Disorder 5b 26
1132 c PRX058 Peroxisome Biogenesis Disorder 4b 26
1133 c LSS025 Lissencephaly 5 26
1134 PRT001 Partial Fetal Alcohol Syndrome 26
1135 PRN010 Paranoid Personality Disorder 25
1136 c CFF011 Coffin-Siris Syndrome 6 25
1137 c DYS121 Dyslexia 1 25
1138 c PRX052 Peroxisome Biogenesis Disorder 13a 25
1139 c PRX091 Peroxisome Biogenesis Disorder 8a 25
1140 c SCK029 Seckel Syndrome 7 25
1141 c PRX066 Peroxisome Biogenesis Disorder 3b 25
1142 c ATS268 Autism X-Linked 4 24
1143 c ATS370 Autism 3 24
1144 ELC001 Elective Mutism 24
1145 c PRX062 Peroxisome Biogenesis Disorder 8b 24
1146 c SCH053 Schizophrenia 13 24
1147 c ATS358 Autism X-Linked 6 24
1148 c BRD051 Bardet-Biedl Syndrome 20 23
1149 ADT001 Auditory Agnosia 23
1150 c SCH045 Schizophrenia 12 23
1151 c LSS035 Lissencephaly 8 23
1152 P PRX064 Peroxisome Biogenesis Disorder 2b 23
1153 c PRX068 Peroxisome Biogenesis Disorder 7b 23
1154 c DYS120 Dyslexia 2 23
1155 c SCK037 Seckel Syndrome 9 23
1156 c SCK038 Seckel Syndrome 10 23
1157 c ATS365 Autism X-Linked 1 22
1158 c ATS378 Autism 17 22
1159 CMB002 Combat Disorder 22
1160 CRT007 Cortical Deafness 21
1161 c KLF005 Kleefstra Syndrome 2 21
1162 c ATS377 Autism 16 21
1163 c ATS369 Autism 8 20
1164 c PRX089 Peroxisome Biogenesis Disorder 10b 20
1165 c ADV007 Advanced Sleep Phase Syndrome, Familial, 2 20
1166 c SCK032 Seckel Syndrome 6 19
1167 c ATS372 Autism 7 19
1168 CLT002 Cluttering 19
1169 c SCH061 Schizophrenia 16 19
1170 c SCH086 Schizophrenia 11 19
1171 c ATS177 Autism X-Linked 5 18
1172 c ADV006 Advanced Sleep Phase Syndrome, Familial, 3 18
1173 c SCH084 Schizophrenia 8 18
1174 c ATS170 Autism 19 18
1175 DVL019 Developmental Delay and Seizures with or Without Movement Abnormalities 18
1176 NRD025 Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations 18
1177 c ATS374 Autism 12 17
1178 c ATS172 Autism 10 17
1179 c ATS375 Autism 13 17
1180 c ATS171 Autism 9 17
1181 c ATS373 Autism 11 16
1182 c DYS125 Dyslexia 8 15
1183 c DYS122 Dyslexia 3 13
1184 c KLF002 Kleefstra Syndrome Due to a Point Mutation 12
1185 c DYS124 Dyslexia 6 12
1186 c RRP002 Rare Pervasive Developmental Disorder 12
1187 c DYS123 Dyslexia 5 11
1188 c DYS126 Dyslexia 9 11
1189 c SYN077 Syndromic X-Linked Intellectual Disability 12 8
1190 VSL001 Visual Verbal Agnosia 7
1191 GNR012 Generalized Gangliosidoses 6
1192 c BPL001 Bipolar Ll Disorder 4
1193 c RRD010 Rare Disease with Autism 4
1194 FTL063 Fetal Nicotine Spectrum Disorder 3
1195 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 65
1196 ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 41
1197 CWC001 Cowchock Syndrome 37
1198 LKN025 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 65
1199 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 28
1200 DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 15
1201 SHL003 Shoulder Girdle Defect Mental Retardation Familial 5
1202 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 49
1203 ALP094 Alpha Thalassemia-Intellectual Disability Syndrome Type 1 30
1204 c AMY091 Amyotrophic Lateral Sclerosis 1 88
1205 CRT072 Creutzfeldt-Jakob Disease 67
1206 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 61
1207 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 59
1208 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 57
1209 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 49
1210 ENC039 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 43
1211 c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 40
1212 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 40
1213 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 39
1214 c AMY090 Amyotrophic Lateral Sclerosis 8 39
1215 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 38
1216 c AMY085 Amyotrophic Lateral Sclerosis 9 37
1217 c AMY088 Amyotrophic Lateral Sclerosis 3 36
1218 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 35
1219 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 35
1220 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 35
1221 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 35
1222 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 34
1223 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 34
1224 c AMY083 Amyotrophic Lateral Sclerosis 11 34
1225 P MSC002 Muscular Dystrophy-Dystroglycanopathy 32
1226 c AMY059 Amyotrophic Lateral Sclerosis 19 32
1227 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 31
1228 c AMY067 Amyotrophic Lateral Sclerosis 18 31
1229 c AMY089 Amyotrophic Lateral Sclerosis 7 30
1230 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 28
1231 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 28
1232 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 28
1233 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 28
1234 c AMY055 Amyotrophic Lateral Sclerosis 17 28
1235 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 27
1236 c AMY022 Amyotrophic Lateral Sclerosis Type 5 27
1237 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 27
1238 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 26
1239 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 26
1240 c AMY062 Amyotrophic Lateral Sclerosis 12 25
1241 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 25
1242 c AMY063 Amyotrophic Lateral Sclerosis 20 23
1243 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 22
1244 c AMY112 Amyotrophic Lateral Sclerosis 25 22
1245 c AMY110 Amyotrophic Lateral Sclerosis 24 22
1246 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 21
1247 c AMY108 Amyotrophic Lateral Sclerosis 23 21
1248 c CNG546 Congenital Muscular Dystrophy-Dystroglycanopathy Type a 18
1249 c CNG557 Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 17
1250 c CNG551 Congenital Muscular Dystrophy-Dystroglycanopathy A7 17
1251 c CNG553 Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 16
1252 c CNG558 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 15
1253 c CNG559 Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 14
1254 c CNG554 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 12
1255 c CNG555 Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 9
1256 c CNG547 Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 9
1257 c CNG548 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 9
1258 c CNG549 Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 9
1259 c CNG550 Congenital Muscular Dystrophy-Dystroglycanopathy A14 9
1260 c CNG552 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 9
1261 c CNG556 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 9
1262 RCH002 Richards-Rundle Syndrome 32
1263 OPT062 Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures 24
1264 CRN268 Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis 24
1265 BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 22
1266 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 9
1267 LBN005 Lubani-Al Saleh-Teebi Syndrome 6
1268 c WRB002 Warburg Micro Syndrome 1 49
1269 BHR001 Behr Syndrome 47
1270 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 43
1271 MRS004 Marshall-Smith Syndrome 43
1272 P WRB001 Warburg Micro Syndrome 38
1273 c WRB003 Warburg Micro Syndrome 2 36
1274 P MPL001 Maple Syrup Urine Disease 68
1275 P TRC102 Trichothiodystrophy 1, Photosensitive 64
1276 FTL002 Fatal Familial Insomnia 47
1277 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 42
1278 PRM175 Primary Familial Brain Calcification 42
1279 P DFN036 Deafness, X-Linked 2 41
1280 c CRD226 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive 37
1281 c DFN105 Deafness, X-Linked 5 30
1282 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 28
1283 MMS001 Momo Syndrome 27
1284 c TRC100 Trichothiodystrophy 3, Photosensitive 26
1285 c DFN194 Deafness, X-Linked 1 25
1286 c DFN147 Deafness, X-Linked 4 24
1287 c INT262 Intermediate Maple Syrup Urine Disease 23
1288 c DFN276 Deafness, X-Linked 6 21
1289 c XLN004 X-Linked Nonsyndromic Deafness 20
1290 c DFN370 Deafness, X-Linked 7 20
1291 c TRC099 Trichothiodystrophy 2, Photosensitive 20
1292 c DFN146 Deafness, X-Linked 3 18
1293 c DFN186 Deafness, Y-Linked 1 16
1294 c DFN372 Deafness, Y-Linked 2 15
1295 ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 14
1296 c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 63
1297 c MNN047 Mannosidosis, Alpha B, Lysosomal 63
1298 MYC079 Myoclonic Epilepsy of Lafora 60
1299 HPT019 Hepatic Encephalopathy 60
1300 P MNN019 Mannosidosis, Beta a, Lysosomal 54
1301 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 52
1302 c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 52
1303 c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 44
1304 GRD009 Gordon Holmes Syndrome 39
1305 CRP033 Corpus Callosum, Agenesis of, with Abnormal Genitalia 39
1306 BLB005 Beaulieu-Boycott-Innes Syndrome 36
1307 ADL060 Adult Polyglucosan Body Disease 33
1308 WYB002 Wyburn-Mason Syndrome 28
1309 CHR506 Choroideremia, Deafness, and Mental Retardation 26
1310 CRN267 Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation 22
1311 HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 21
1312 MCR066 Microcephaly-Cardiomyopathy 21
1313 c BMN004 Biemond Syndrome Ii 20
1314 NRP046 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers 19
1315 MCR306 Microcephaly-Deafness Syndrome 18
1316 KNN010 Kennerknecht Syndrome 18
1317 CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 18
1318 WLM019 Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 17
1319 OST047 Osteopenia and Sparse Hair 17
1320 MYT024 Myotonia with Skeletal Abnormalities and Mental Retardation 17
1321 c OST149 Osteolysis Syndrome, Recessive 17
1322 FKY002 Fukuyama Type Muscular Dystrophy 16
1323 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 16
1324 MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 15
1325 P BMN001 Biemond Syndrome 14
1326 CDL001 Caudal Appendage Deafness 14
1327 GRW038 Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 12
1328 RRD001 Reardon Wilson Cavanagh Syndrome 11
1329 XLN128 X-Linked Intellectual Disability, Abidi Type 11
1330 SPN396 Spinal Muscular Atrophy with Mental Retardation 10
1331 RMS002 Ramos Arroyo Clark Syndrome 10
1332 WDM002 Wiedemann Oldigs Oppermann Syndrome 10
1333 MNT316 Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 9
1334 P PRM337 Primary Osteolysis 8
1335 PFF002 Pfeiffer Kapferer Syndrome 8
1336 ART113 Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability 8
1337 KRN006 Karandikar Maria Kamble Syndrome 7
1338 XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 7
1339 RNL121 Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 6
1340 c BMN003 Biemond Syndrome Type 1 3
1341 P SLP006 Sleep Apnea 71
1342 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 68
1343 PSY004 Psychotic Disorder 68
1344 GLL008 Gilles De La Tourette Syndrome 66
1345 P ATT013 Attention Deficit-Hyperactivity Disorder 66
1346 P PRS038 Personality Disorder 66
1347 DSS008 Disease of Mental Health 66
1348 DMN031 Dementia, Lewy Body 66
1349 APN008 Apnea, Obstructive Sleep 64
1350 ART002 Arts Syndrome 63
1351 GLC006 Galactosemia 63
1352 ETN001 Eating Disorder 61
1353 MNT002 Mental Depression 60
1354 P BPL003 Bipolar Disorder 59
1355 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 58
1356 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 56
1357 P AGN002 Agnosia 56
1358 TRM010 Traumatic Brain Injury 54
1359 P CNG010 Congenital Stationary Night Blindness 54
1360 FRN051 Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related 54
1361 P PNC025 Panic Disorder 53
1362 STT041 Stuttering 53
1363 SMT006 Somatoform Disorder 51
1364 SCH012 Schizoaffective Disorder 50
1365 P NRD007 Neurodegeneration with Brain Iron Accumulation 48
1366 P ASP001 Asperger Syndrome 48
1367 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 48
1368 c NGH026 Night Blindness, Congenital Stationary, Type 1a 46
1369 TRC010 Trichotillomania 45
1370 c SCH085 Schizophrenia 2 45
1371 PRT052 Partington X-Linked Mental Retardation Syndrome 44
1372 P CRB154 Cerebrocostomandibular Syndrome 43
1373 c CFF009 Coffin-Siris Syndrome 4 42
1374 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 42
1375 GLT018 Glut1 Deficiency Syndrome 1 42
1376 CNV002 Conversion Disorder 42
1377 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 42
1378 MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 41
1379 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 41
1380 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 41
1381 DPR002 Depersonalization Disorder 41
1382 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 39
1383 VNC001 Von Economo's Disease 39
1384 c SCK015 Seckel Syndrome 2 39
1385 WHT019 White-Sutton Syndrome 39
1386 c SPL033 Split-Hand/foot Malformation 6 39
1387 c MNT143 Mental Retardation, Autosomal Dominant 13 38
1388 FRN013 Frontotemporal Dementia, Chromosome 3-Linked 38
1389 P PRR025 Perrault Syndrome 37
1390 c SCH051 Schizophrenia 4 36
1391 P BSL038 Basal Ganglia Calcification, Idiopathic, 1 36
1392 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 35
1393 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 34
1394 DND005 Dandy-Walker Complex 34
1395 P PRS013 Prosopagnosia 34
1396 MCR025 Microhydranencephaly 33
1397 c NGH007 Night Blindness, Congenital Stationary, Type 1b 33
1398 c NGH025 Night Blindness, Congenital Stationary, Type 2a 33
1399 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 32
1400 c SCH056 Schizophrenia 15 32
1401 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 32
1402 c BRD021 Bardet-Biedl Syndrome 9 32
1403 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 31
1404 c CRD225 Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant 31
1405 c NGH010 Night Blindness, Congenital Stationary, Autosomal Dominant 2 30
1406 HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 29
1407 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 29
1408 c PRR020 Perrault Syndrome 1 28
1409 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 28
1410 c SCH073 Schizophrenia 9 28
1411 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 28
1412 c NGH027 Night Blindness, Congenital Stationary, Type 1c 28
1413 c SCH087 Schizophrenia 18 28
1414 SYN089 Syndromic X-Linked Intellectual Disability Snyder Type 27
1415 DRG004 Drug-Induced Mental Disorder 27
1416 SML010 Simultanagnosia 27
1417 c MNT158 Mental Retardation, Autosomal Dominant 22 27
1418 c PRR026 Perrault Syndrome 5 27
1419 NRD028 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 26
1420 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 26
1421 c MCR255 Microcephaly 9, Primary, Autosomal Recessive 26
1422 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 25
1423 c ATS168 Autosomal Dominant Congenital Stationary Night Blindness 25
1424 c MNT262 Mental Retardation, Autosomal Dominant 42 25
1425 c MNT214 Mental Retardation, Autosomal Dominant 24 25
1426 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 25
1427 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 25
1428 c PRR022 Perrault Syndrome 2 25
1429 P SYN064 Syndromic X-Linked Intellectual Disability 25
1430 c PRR024 Perrault Syndrome 3 25
1431 c PRR021 Perrault Syndrome 4 25
1432 DSS025 Dissociative Seizures 25
1433 c NGH028 Night Blindness, Congenital Stationary, Type 1d 24
1434 c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 24
1435 c NGH030 Night Blindness, Congenital Stationary, Type 1f 24
1436 c SCH075 Schizophrenia 19 24
1437 c MNT184 Mental Retardation, Autosomal Dominant 11 23
1438 c MNT324 Mental Retardation, Autosomal Dominant 49 23
1439 c BSL046 Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive 23
1440 c MNT326 Mental Retardation, Autosomal Dominant 50 23
1441 c BSL032 Basal Ganglia Calcification, Idiopathic, 4 23
1442 c BSL035 Basal Ganglia Calcification, Idiopathic, 5 23
1443 c BSL039 Basal Ganglia Calcification, Idiopathic, 6 23
1444 c MNT294 Mental Retardation, X-Linked 106 23
1445 c ASP032 Asperger Syndrome 1 23
1446 c PLY181 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 22
1447 ALC013 Alcohol-Induced Mental Disorder 22
1448 c PRS058 Prosopagnosia, Hereditary 22
1449 c NGH021 Night Blindness, Congenital Stationary, Autosomal Dominant 1 22
1450 c MNT323 Mental Retardation, Autosomal Dominant 48 22
1451 c NGH008 Night Blindness, Congenital Stationary, Autosomal Dominant 3 22
1452 c MNT219 Mental Retardation, Autosomal Dominant 30 22
1453 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 22
1454 c MNT327 Mental Retardation, Autosomal Dominant 51 21
1455 c NGH022 Night Blindness, Congenital Stationary, Type 1g 21
1456 c MNT191 Mental Retardation, X-Linked, Syndromic 17 21
1457 c NGH024 Night Blindness, Congenital Stationary, Type 1h 20
1458 c MNT278 Mental Retardation, Autosomal Dominant 46 20
1459 MLS013 Miles-Carpenter Syndrome 20
1460 c ATS390 Autosomal Dominant Non-Syndromic Intellectual Disability 9 20
1461 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 19
1462 c PRR033 Perrault Syndrome 6 19
1463 c PNC122 Panic Disorder 1 19
1464 MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 17
1465 c ASP031 Asperger Syndrome 2 16
1466 c BSL031 Basal Ganglia Calcification, Idiopathic, 2 16
1467 c ATT020 Attention Deficit-Hyperactivity Disorder 2 15
1468 ORG003 Organic Mood Syndrome 14
1469 SYN079 Syndromic X-Linked Intellectual Disability Siderius Type 14
1470 c ASP033 Asperger Syndrome 3 14
1471 c ASP034 Asperger Syndrome 4 13
1472 c PNC070 Panic Disorder 2 13
1473 c PNC068 Panic Disorder 3 12
1474 c ATT019 Attention Deficit-Hyperactivity Disorder 1 12
1475 c ATT022 Attention Deficit-Hyperactivity Disorder 4 11
1476 c ATT021 Attention Deficit-Hyperactivity Disorder 3 11
1477 SYN081 Syndromic X-Linked Intellectual Disability Abidi Type 10
1478 c ATS388 Autosomal Dominant Non-Syndromic Intellectual Disability 6 9
1479 SYN083 Syndromic X-Linked Intellectual Disability Shashi Type 9
1480 c ATS389 Autosomal Dominant Non-Syndromic Intellectual Disability 8 8
1481 SYN091 Syndromic X-Linked Intellectual Disability Nascimento Type 7
1482 c CRB078 Cerebrocostomandibular-Like Syndrome 7
1483 c ATS394 Autosomal Dominant Mental Retardation 55 5
1484 MTH021 Methylmalonic Acidemia with Homocystinuria 46
1485 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 20
1486 P ALZ034 Alzheimer Disease 90
1487 P SCH015 Schizophrenia 76
1488 P JBR020 Joubert Syndrome 1 72
1489 P MJR001 Major Depressive Disorder 69
1490 PCK003 Pick Disease of Brain 63
1491 c TYR012 Tyrosinemia, Type I 61
1492 P SLP005 Sleep Disorder 58
1493 P FTL001 Fetal Alcohol Syndrome 56
1494 P NRC002 Narcolepsy 56
1495 SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 56
1496 c CNG208 Congenital Disorder of Glycosylation, Type Iic 55
1497 ARS001 Aarskog-Scott Syndrome 54
1498 P RST001 Restless Legs Syndrome 54
1499 P TYR004 Tyrosinemia 54
1500 c ALZ049 Alzheimer Disease 2 52
1501 CRB150 Cerebral Creatine Deficiency Syndrome 2 52
1502 c NRC009 Narcolepsy 1 50
1503 AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 49
1504 c SPL067 Split-Hand/foot Malformation 1 49
1505 c ALZ056 Alzheimer Disease 3 47
1506 c ALZ054 Alzheimer Disease 4 47
1507 KLN009 Kleine-Levin Hibernation Syndrome 46
1508 P RSM001 Rasmussen Encephalitis 46
1509 c FTL006 Fetal Alcohol Spectrum Disorder 45
1510 LBS001 Lubs X-Linked Mental Retardation Syndrome 44
1511 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 43
1512 CHR594 Chromosome 3q29 Deletion Syndrome 43
1513 c CRT081 Cortical Dysplasia, Complex, with Other Brain Malformations 7 43
1514 FRG010 Fragile X Tremor/ataxia Syndrome 43
1515 c JBR015 Joubert Syndrome 6 43
1516 c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 42
1517 c JBR024 Joubert Syndrome 14 42
1518 c BRD032 Bardet-Biedl Syndrome 14 42
1519 P SPL061 Split Hand-Foot Malformation 42
1520 c TYR011 Tyrosinemia, Type Iii 41
1521 KLV001 Kluver-Bucy Syndrome 40
1522 c JBR004 Joubert Syndrome 2 40
1523 CHR174 Christianson Syndrome 39
1524 SCH074 Schuurs-Hoeijmakers Syndrome 39
1525 c SPL024 Split-Hand/foot Malformation 3 38
1526 c WRB005 Warburg Micro Syndrome 4 38
1527 c ATS384 Autosomal Dominant Non-Syndromic Intellectual Disability 2 38
1528 c JBR025 Joubert Syndrome 17 38
1529 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 38
1530 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 37
1531 c PRK085 Parkinson Disease 1, Autosomal Dominant 37
1532 c SPL070 Split-Hand/foot Malformation 2 37
1533 c BRD019 Bardet-Biedl Syndrome 7 37
1534 c NRC010 Narcolepsy 2 36
1535 c JBR041 Joubert Syndrome 3 36
1536 c ALZ063 Alzheimer's Disease 1 36
1537 c CFF010 Coffin-Siris Syndrome 3 35
1538 c SPL025 Split-Hand/foot Malformation 5 34
1539 XGB001 Xia-Gibbs Syndrome 34
1540 c ALZ050 Alzheimer Disease 5 34
1541 c RST012 Restless Legs Syndrome 1 34
1542 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 34
1543 c JBR022 Joubert Syndrome 20 34
1544 c ATS383 Autosomal Dominant Non-Syndromic Intellectual Disability 1 33
1545 c CFF007 Coffin-Siris Syndrome 2 33
1546 c ATS385 Autosomal Dominant Non-Syndromic Intellectual Disability 3 33
1547 c JBR012 Joubert Syndrome 5 32
1548 c CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 32
1549 c RBN008 Rubinstein-Taybi Syndrome 2 32
1550 NNS032 Non-Syndromic X-Linked Intellectual Disability 31
1551 c ALZ062 Alzheimer Disease 19 30
1552 c JBR014 Joubert Syndrome 9 30
1553 c JBR026 Joubert Syndrome 15 30
1554 c JBR042 Joubert Syndrome 23 29
1555 c JBR031 Joubert Syndrome 21 29
1556 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 29
1557 c JBR013 Joubert Syndrome 8 28
1558 c JBR016 Joubert Syndrome 10 28
1559 PRT055 Prieto X-Linked Mental Retardation Syndrome 28
1560 c JBR011 Joubert Syndrome 7 27
1561 c PRK081 Parkinson Disease 19a, Juvenile-Onset 27
1562 c ALZ057 Alzheimer Disease 10 27
1563 c JBR039 Joubert Syndrome 28 27
1564 c ALZ012 Alzheimer Disease 12 26
1565 c JBR030 Joubert Syndrome 22 26
1566 c JBR018 Joubert Syndrome 4 26
1567 c CRT082 Cortical Dysplasia, Complex, with Other Brain Malformations 8 26
1568 c MNT328 Mental Retardation, Autosomal Dominant 52 26
1569 c MNT273 Mental Retardation, Autosomal Dominant 44 25
1570 c MNT246 Mental Retardation, Autosomal Dominant 38 25
1571 c JBR027 Joubert Syndrome 16 25
1572 c JBR021 Joubert Syndrome 18 25
1573 c JBR036 Joubert Syndrome 25 25
1574 c JBR043 Joubert Syndrome 32 25
1575 c JBR035 Joubert Syndrome 24 25
1576 c MNT272 Mental Retardation, Autosomal Dominant 41 25
1577 c ALZ045 Alzheimer Disease 9 24
1578 c JBR040 Joubert Syndrome 30 24
1579 c JBR045 Joubert Syndrome 33 24
1580 c ALZ016 Alzheimer Disease 8 24
1581 c MNT280 Mental Retardation, Autosomal Dominant 43 24
1582 c JBR037 Joubert Syndrome 26 24
1583 c MNT222 Mental Retardation, Autosomal Dominant 29 24
1584 c RST020 Restless Legs Syndrome 6 24
1585 c CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 23
1586 c MNT236 Mental Retardation, Autosomal Dominant 39 23
1587 c MNT332 Mental Retardation, Autosomal Dominant 56 23
1588 c CRT073 Cortical Dysplasia, Complex, with Other Brain Malformations 5 23
1589 SYN092 Syndromic X-Linked Intellectual Disability Cabezas Type 23
1590 c MNT329 Mental Retardation, Autosomal Dominant 53 23
1591 c CFF006 Coffin-Siris Syndrome 5 23
1592 c JBR028 Joubert Syndrome 13 23
1593 c JBR047 Joubert Syndrome 35 23
1594 c MNT242 Mental Retardation, Autosomal Dominant 40 23
1595 c ATS387 Autosomal Dominant Non-Syndromic Intellectual Disability 5 23
1596 c CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 22
1597 c ALZ015 Alzheimer Disease 6 22
1598 c JBR038 Joubert Syndrome 27 22
1599 c JBR044 Joubert Syndrome 31 22
1600 c CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 22
1601 c MNT238 Mental Retardation, Autosomal Dominant 34 22
1602 c MNT330 Mental Retardation, Autosomal Dominant 54 22
1603 c CFF012 Coffin-Siris Syndrome 7 22
1604 c MNT325 Mental Retardation, Autosomal Recessive 61 22
1605 c CFF013 Coffin-Siris Syndrome 8 21
1606 c CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 21
1607 c MNT286 Mental Retardation, Autosomal Dominant 45 21
1608 c SCK033 Seckel Syndrome 8 21
1609 c ALZ053 Alzheimer Disease 7 21
1610 c ALZ014 Alzheimer Disease 16 21
1611 c RSM003 Rasmussen Subacute Encephalitis 21
1612 c MNT186 Mental Retardation, Autosomal Dominant 10 21
1613 c CRT087 Cortical Dysplasia, Complex, with Other Brain Malformations 9 20
1614 SYN090 Syndromic X-Linked Intellectual Disability Turner Type 20
1615 c NRC017 Narcolepsy 7 20
1616 c ALZ032 Alzheimer Disease 18 20
1617 ARM006 Armfield X-Linked Mental Retardation Syndrome 20
1618 c MNT240 Mental Retardation, Autosomal Dominant 33 19
1619 c ALZ060 Alzheimer Disease 14 19
1620 c ALZ031 Alzheimer Disease 17 18
1621 c ALZ061 Alzheimer Disease 15 18
1622 c SYN078 Syndromic X-Linked Intellectual Disability Type 10 18
1623 c ATS386 Autosomal Dominant Non-Syndromic Intellectual Disability 4 17
1624 c MJR013 Major Depressive Disorder 1 17
1625 P CMP082 Complex Cortical Dysplasia with Other Brain Malformations 17
1626 c CFF015 Coffin-Siris Syndrome 10 17
1627 c NRC011 Narcolepsy 3 17
1628 c ALZ058 Alzheimer Disease 11 16
1629 c MJR014 Major Depressive Disorder 2 16
1630 c ALZ059 Alzheimer Disease 13 16
1631 c RST016 Restless Legs Syndrome 7 16
1632 c NRC012 Narcolepsy 4 14
1633 c NRC013 Narcolepsy 5 14
1634 c NRC018 Narcolepsy 6 14
1635 c RST013 Restless Legs Syndrome 2 13
1636 c RST014 Restless Legs Syndrome 3 13
1637 c RST015 Restless Legs Syndrome 4 13
1638 c RST021 Restless Legs Syndrome 5 12
1639 c RST019 Restless Legs Syndrome 8 11
1640 c RRS011 Rare Sleep Disorder 11
1641 SYN093 Syndromic X-Linked Intellectual Disability Raymond Type 7
1642 c ATS417 Autosomal Dominant Non-Syndromic Intellectual Disability 19 7
1643 c ATS422 Autosomal Dominant Non-Syndromic Intellectual Disability 27 6
1644 SYN094 Syndromic X-Linked Mental Retardation Hough Type 3
1645 FRN006 Frontotemporal Dementia 70
1646 OBS002 Obsessive-Compulsive Disorder 69
1647 P ORT004 Orthostatic Intolerance 68
1648 P CCK001 Cockayne Syndrome 66
1649 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 58
1650 P RHZ001 Rhizomelic Chondrodysplasia Punctata 53
1651 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 52
1652 c CCK008 Cockayne Syndrome a 51
1653 RNP003 Renpenning Syndrome 1 50
1654 LRN001 Laurence-Moon Syndrome 49
1655 c BRD016 Bardet-Biedl Syndrome 4 48
1656 c CCK007 Cockayne Syndrome B 48
1657 c PNT034 Pontocerebellar Hypoplasia, Type 2e 47
1658 KRT013 Keratolytic Winter Erythema 45
1659 PNN005 Panencephalitis, Subacute Sclerosing 43
1660 ADN022 Adenylosuccinase Deficiency 43
1661 DCR008 Dicarboxylic Aminoaciduria 43
1662 HLS003 Helsmoortel-Van Der Aa Syndrome 42
1663 c PNT037 Pontocerebellar Hypoplasia, Type 3 42
1664 c PNT010 Pontocerebellar Hypoplasia Type 1 42
1665 c PNT036 Pontocerebellar Hypoplasia, Type 6 41
1666 P MNT135 Mental Retardation, X-Linked, Syndromic 13 40
1667 GLT019 Glut1 Deficiency Syndrome 2 40
1668 P PNT019 Pontocerebellar Hypoplasia 39
1669 c PNT018 Pontocerebellar Hypoplasia, Type 1b 39
1670 MTH026 Methemoglobinemia Due to Deficiency of Methemoglobin Reductase 36
1671 c PNT043 Pontocerebellar Hypoplasia, Type 4 35
1672 c ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 35
1673 AMN007 Aminoacylase 1 Deficiency 35
1674 c PNT045 Pontocerebellar Hypoplasia, Type 1a 34
1675 c CCK003 Cockayne Syndrome Type Ii 34
1676 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 34
1677 c PNT044 Pontocerebellar Hypoplasia, Type 2a 33
1678 IMM056 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 33
1679 c CCK002 Cockayne Syndrome Type I 33
1680 c PNT032 Pontocerebellar Hypoplasia, Type 9 32
1681 PRK087 Parkinson-Dementia Syndrome 32
1682 c PNT039 Pontocerebellar Hypoplasia, Type 7 30
1683 c PNT046 Pontocerebellar Hypoplasia, Type 5 30
1684 MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 28
1685 ENC054 Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations 28
1686 c PNT033 Pontocerebellar Hypoplasia, Type 10 28
1687 c PNT035 Pontocerebellar Hypoplasia, Type 1c 28
1688 c PNT047 Pontocerebellar Hypoplasia, Type 2b 26
1689 c PNT051 Pontocerebellar Hypoplasia, Type 1d 26
1690 c MNT296 Mental Retardation, X-Linked, Syndromic 34 26
1691 c WRB004 Warburg Micro Syndrome 3 26
1692 URC006 Urocanase Deficiency 25
1693 c PNT048 Pontocerebellar Hypoplasia, Type 2c 25
1694 c PNT050 Pontocerebellar Hypoplasia, Type 11 25
1695 CMB083 Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia 23
1696 c PNT030 Pontocerebellar Hypoplasia, Type 8 23
1697 c CCK004 Cockayne Syndrome Type Iii 23
1698 c PNT052 Pontocerebellar Hypoplasia, Type 12 22
1699 c PNT042 Pontocerebellar Hypoplasia, Type 2f 20
1700 c MNT197 Mental Retardation, X-Linked, Syndromic 9 19
1701 c CHR344 Chronic Orthostatic Intolerance 18
1702 c SYN056 Syndromic X-Linked Intellectual Disability 7 16
1703 BRN028 Brain Cancer 75
1704 SND001 Sandhoff Disease 65
1705 P STS008 Sotos Syndrome 1 57
1706 c BRD014 Bardet-Biedl Syndrome 2 56
1707 P D2H002 D-2-Hydroxyglutaric Aciduria 1 50
1708 c L2H001 L-2-Hydroxyglutaric Aciduria 49
1709 P LSS036 Lissencephaly, X-Linked, 1 45
1710 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 45
1711 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 42
1712 P MNT319 Mental Retardation, Autosomal Dominant 20 42
1713 MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 40
1714 c 2HY001 2-Hydroxyglutaric Aciduria 40
1715 P HYP111 Hyperprolinemia 39
1716 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 38
1717 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 37
1718 c LSS037 Lissencephaly, X-Linked, 2 35
1719 c ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 33
1720 c STS007 Sotos Syndrome 2 32
1721 DGL002 D-Glyceric Aciduria 32
1722 c HYP248 Hyperprolinemia, Type I 31
1723 c HYP597 Hyperprolinemia, Type Ii 31
1724 MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 31
1725 c MNT157 Mental Retardation, Autosomal Dominant 18 27
1726 c MNT239 Mental Retardation, Autosomal Dominant 35 26
1727 c D2H003 D-2-Hydroxyglutaric Aciduria 2 23
1728 c MNT279 Mental Retardation, Autosomal Dominant 47 22
1729 c MNT207 Mental Retardation, X-Linked, Syndromic 32 21
1730 c STS009 Sotos Syndrome 3 18
1731 CRP036 Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome 14
1732 P RTT002 Rett Syndrome 81
1733 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 62
1734 P CFF008 Coffin-Siris Syndrome 1 59
1735 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 52
1736 P SLL003 Salla Disease 47
1737 ATH001 Athabaskan Brainstem Dysgenesis Syndrome 39
1738 LTH002 Lathosterolosis 37
1739 c MNT185 Mental Retardation, Autosomal Dominant 7 34
1740 c MNT212 Mental Retardation, Autosomal Dominant 26 30
1741 SHH004 Shaheen Syndrome 30
1742 c MNT226 Mental Retardation, Autosomal Dominant 31 30
1743 c RTT008 Rett Syndrome, Congenital Variant 28
1744 c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 27
1745 c MNT241 Mental Retardation, Autosomal Dominant 32 27
1746 c MNT211 Mental Retardation, Autosomal Dominant 23 25
1747 c MNT179 Mental Retardation, Autosomal Dominant 21 24
1748 c MNT245 Mental Retardation, Autosomal Dominant 36 22
1749 c INT094 Intermediate Severe Salla Disease 13
1750 BRJ001 Borjeson-Forssman-Lehmann Syndrome 53
1751 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 49
1752 PTT059 Pettigrew Syndrome 46
1753 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 46
1754 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 45
1755 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 45
1756 c STR085 Striatonigral Degeneration, Infantile 39
1757 P STR001 Striatonigral Degeneration 38
1758 c MNT298 Mental Retardation, X-Linked, Syndromic, 35 27
1759 P MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 48
1760 c MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 40
1761 MHM001 Mehmo Syndrome 37
1762 c MCR331 Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii 22



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