Mental Diseases Category (1804 diseases)


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

# Family MCID Name MIFTS
1 P FRN044 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 62
2 AMY027 Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 54
3 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 44
4 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 61
5 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 39
6 P HRD084 Hereditary Cerebral Amyloid Angiopathy 32
7 MNT056 Mental Retardation, X-Linked, Syndromic, Nascimento Type 29
8 KHL003 Kohlschutter-Tonz Syndrome 65
9 MNT310 Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 38
10 GRS011 Gerstmann-Straussler Disease 56
11 c AMY107 Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia 26
12 STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 25
13 KFR001 Kufor-Rakeb Syndrome 60
14 CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 36
15 XLN134 X-Linked Intellectual Disability, Siderius Type 26
16 MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 22
17 DNT005 Dentatorubral-Pallidoluysian Atrophy 54
18 c FRN043 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 38
19 c FRN045 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 37
20 c FRN040 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 33
21 P SPN202 Spinocerebellar Ataxia, X-Linked 1 32
22 c SPN364 Spinocerebellar Ataxia, X-Linked 3 22
23 c SPN203 Spinocerebellar Ataxia, X-Linked 5 20
24 c SPN363 Spinocerebellar Ataxia, X-Linked 4 18
25 c SPN403 Spinocerebellar Ataxia, X-Linked 2 16
26 c INC031 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 32
27 c AMY104 Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia 26
28 c MNT150 Mental Retardation, Autosomal Recessive 15 26
29 c MNT321 Mental Retardation, Autosomal Recessive 37 25
30 INT369 Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type 24
31 FRN030 Frontotemporal Dementia with Parkinsonism-17 24
32 AMY102 Amyotrophic Lateral Sclerosis, Juvenile, with Dementia 24
33 c MNT151 Mental Retardation, Autosomal Recessive 18 20
34 c MNT154 Mental Retardation, Autosomal Recessive 14 19
35 RTN207 Retinopathy, Pigmentary, and Mental Retardation 19
36 c CHM002 Chmp2b-Related Frontotemporal Dementia 16
37 SMN008 Semantic Dementia 47
38 P AMY106 Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia 43
39 BNS003 Binswanger's Disease 42
40 c MJR003 Major Affective Disorder 6 33
41 c MJR006 Major Affective Disorder 5 33
42 HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 32
43 AMM001 Amme Complex 31
44 c MJR004 Major Affective Disorder 4 29
45 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 27
46 DMN012 Dementia - Subcortical 21
47 MNT257 Mental Retardation, X-Linked, with Craniofacial Dysmorphism 18
48 SCT004 Scott Bryant Graham Syndrome 16
49 DPR016 Depression 63
50 BRK002 Birk-Barel Syndrome 41
51 DMN026 Dementia Pugilistica 27
52 c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 26
53 SBN004 Sabinas Brittle Hair Syndrome 18
54 P INC029 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 47
55 c INC015 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 37
56 c MJR023 Major Affective Disorder 7 33
57 c AMY105 Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia 29
58 c MNT145 Mental Retardation, Autosomal Recessive 5 29
59 OHD003 Ohdo Syndrome, X-Linked 28
60 c MNT213 Mental Retardation, Autosomal Recessive 40 27
61 c MNT244 Mental Retardation, Autosomal Recessive 49 23
62 c MNT227 Mental Retardation, Autosomal Recessive 46 22
63 c MNT221 Mental Retardation, Autosomal Recessive 44 21
64 c HYP830 Hypomagnesemia, Seizures, and Mental Retardation 1 20
65 GRN060 Grn-Related Frontotemporal Lobar Degeneration 20
66 c AMY099 Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia 20
67 c MNT225 Mental Retardation, Autosomal Recessive 47 19
68 c MNT220 Mental Retardation, Autosomal Recessive 45 18
69 c MNT243 Mental Retardation, Autosomal Recessive 50 18
70 c MNT264 Mental Retardation, Autosomal Recessive 52 17
71 c CRB193 Cerebral Amyloid Angiopathy, App-Related 55
72 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 52
73 c MJR024 Major Affective Disorder 9 41
74 c MJR022 Major Affective Disorder 8 38
75 c ALP076 Alopecia-Mental Retardation Syndrome 1 21
76 c AMY074 Amyotrophic Lateral Sclerosis Type 14 21
77 HLL013 Hall-Riggs Mental Retardation Syndrome 18
78 MNT030 Mental Retardation Syndrome, Belgian Type 18
79 LMB066 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 18
80 MNT311 Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration 16
81 PTR031 Pterygium Colli and Mental Retardation with Facial and Digital Anomalies 16
82 P MNT312 Mental Health Wellness 1 15
83 SPN347 Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 15
84 CTR173 Cataract, Ataxia, Short Stature, and Mental Retardation 14
85 c MJR021 Major Affective Disorder 3 14
86 c MNT313 Mental Health Wellness 2 10
87 c RBN021 Rubinstein-Taybi Syndrome 1 57
88 ADS004 Aids Dementia Complex 40
89 PSD088 Pseudobulbar Affect 36
90 FGS004 Fg Syndrome 4 26
91 SBC025 Subcortical Arteriosclerotic Encephalopathy 20
92 MNT306 Mental Retardation, X-Linked, Syndromic, Houge Type 18
93 P ALP110 Alopecia-Mental Retardation Syndrome 17
94 P RBN007 Rubinstein Taybi Like Syndrome 7
95 P PRK057 Parkinson Disease, Late-Onset 78
96 CLF027 Cleft Palate, Isolated 64
97 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 59
98 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 51
99 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 48
100 c PRK071 Parkinson Disease 14, Autosomal Recessive 48
101 c PRK065 Parkinson Disease 20, Early-Onset 44
102 c PRK093 Parkinson Disease 8, Autosomal Dominant 44
103 c HRD173 Hereditary Late-Onset Parkinson Disease 44
104 c PRK052 Parkinson Disease 17 43
105 c PRK090 Parkinson Disease 3, Autosomal Dominant 40
106 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 40
107 JWD001 Jawad Syndrome 40
108 c ERL056 Early-Onset Parkinson's Disease 39
109 c PRK091 Parkinson Disease 4, Autosomal Dominant 39
110 c PRK070 Parkinson Disease 21 37
111 c PRK025 Parkinson Disease 10 33
112 P INC033 Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2 30
113 c PRK083 Parkinson Disease 22, Autosomal Dominant 28
114 c PRK098 Parkinson Disease 5, Autosomal Dominant 28
115 c INC035 Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 3 27
116 MNT118 Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 26
117 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 26
118 c MNT282 Mental Retardation, Autosomal Recessive 55 26
119 c JVN058 Juvenile-Onset Parkinson's Disease 25
120 c PRK096 Parkinson Disease 13, Autosomal Dominant 25
121 c PRK094 Parkinson Disease 11, Autosomal Dominant 25
122 c PRK099 Parkinson Disease 18, Autosomal Dominant 24
123 MCR378 Microangiopathy and Leukoencephalopathy, Pontine, Autosomal Dominant 23
124 c MNT285 Mental Retardation, Autosomal Recessive 58 21
125 DRM023 Dermoodontodysplasia 21
126 P INT336 Intellectual Developmental Disorder, Autosomal Recessive 68 20
127 c PRK022 Parkinson Disease 12 20
128 c MNT277 Mental Retardation, Autosomal Recessive 54 17
129 MNT331 Mental Retardation, Autosomal Dominant 55, with Seizures 17
130 c PRK058 Parkinson Disease 16 17
131 c ALP109 Alopecia-Mental Retardation Syndrome 4 17
132 c MNT281 Mental Retardation, Autosomal Recessive 59 17
133 c MNT335 Mental Retardation, Autosomal Recessive 63 16
134 XLN132 X-Linked Intellectual Disability, Schimke Type 13
135 c VPS003 Vps35-Related Parkinson Disease 10
136 MLP003 Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type 10
137 PLT011 Pilotto Syndrome 8
138 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 70
139 P DMN002 Dementia 66
140 P MRN003 Marinesco-Sjogren Syndrome 54
141 SCH071 Schaaf-Yang Syndrome 54
142 P OLV001 Olivopontocerebellar Atrophy 51
143 c KLF004 Kleefstra Syndrome 1 50
144 c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 48
145 c BRD015 Bardet-Biedl Syndrome 3 48
146 c TYR013 Tyrosinemia, Type Ii 47
147 P KLF001 Kleefstra Syndrome 47
148 P PLL002 Pellagra 46
149 WDM004 Wiedemann-Steiner Syndrome 45
150 c AMY090 Amyotrophic Lateral Sclerosis 8 43
151 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 42
152 OLV002 Oliver Syndrome 42
153 c AMY083 Amyotrophic Lateral Sclerosis 11 40
154 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 38
155 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 38
156 c AMY062 Amyotrophic Lateral Sclerosis 12 37
157 c AMY055 Amyotrophic Lateral Sclerosis 17 36
158 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 36
159 c AMY088 Amyotrophic Lateral Sclerosis 3 36
160 c AMY085 Amyotrophic Lateral Sclerosis 9 35
161 c AMY059 Amyotrophic Lateral Sclerosis 19 34
162 c CRB170 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 34
163 c AMY067 Amyotrophic Lateral Sclerosis 18 33
164 c KLF005 Kleefstra Syndrome 2 33
165 c AMY063 Amyotrophic Lateral Sclerosis 20 32
166 c AMY022 Amyotrophic Lateral Sclerosis Type 5 30
167 c AMY023 Amyotrophic Lateral Sclerosis Type 6 29
168 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 29
169 SPN368 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 27
170 c AMY089 Amyotrophic Lateral Sclerosis 7 27
171 RMN002 Ramon Syndrome 26
172 CHR669 Chromosome 2p16.3 Deletion Syndrome 26
173 c AMY110 Amyotrophic Lateral Sclerosis 24 24
174 c AMY079 Amyotrophic Lateral Sclerosis Type 15 24
175 MCD002 Mcdonough Syndrome 23
176 P ALP068 Alopecia-Intellectual Disability Syndrome 22
177 c AMY112 Amyotrophic Lateral Sclerosis 25 21
178 c AMY108 Amyotrophic Lateral Sclerosis 23 21
179 MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 21
180 P BMN004 Biemond Syndrome Ii 21
181 CHR397 Chromosome Xp11.3 Deletion Syndrome 20
182 INT371 Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type 20
183 MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 20
184 OCL043 Oculorenocerebellar Syndrome 20
185 RSS027 Russell-Silver Syndrome, X-Linked 19
186 FLL034 Fallot Complex with Severe Mental and Growth Retardation 19
187 BRC121 Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation 18
188 c PLL014 Pellagra-Like Syndrome 18
189 c AMY109 Amyotrophic Lateral Sclerosis Type 22 18
190 c MNT247 Mental Retardation, X-Linked 73 17
191 c MNT204 Mental Retardation, X-Linked 23 17
192 EPL162 Epilepsy-Telangiectasia 17
193 MNT255 Mental Retardation and Psoriasis 17
194 OHD002 Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant 16
195 c MNT194 Mental Retardation, X-Linked 50 16
196 MNT315 Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 16
197 DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 16
198 SHR089 Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome 16
199 c MNT180 Mental Retardation, Autosomal Recessive 33 16
200 ALP067 Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome 16
201 c MNT202 Mental Retardation, X-Linked 53 15
202 c OLV005 Olivopontocerebellar Atrophy V 15
203 INT361 Intellectual Developmental Disorder 60 with Seizures 15
204 c MNT167 Mental Retardation, Autosomal Recessive 16 15
205 c MNT165 Mental Retardation, Autosomal Recessive 28 15
206 c C9R002 C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia 15
207 c MNT182 Mental Retardation, Autosomal Recessive 19 15
208 GRN059 Grn Frontotemporal Dementia 14
209 c KLF002 Kleefstra Syndrome Due to a Point Mutation 14
210 CRN103 Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 14
211 ECT104 Ectodermal Dysplasia with Mental Retardation and Syndactyly 14
212 c MNT160 Mental Retardation, Autosomal Recessive 31 13
213 GRW038 Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 13
214 c MNT205 Mental Retardation, X-Linked 42 13
215 MTR081 Motor Neuron Disease with Dementia and Ophthalmoplegia 13
216 MNT039 Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 13
217 c TRD001 Tardbp-Related Amyotrophic Lateral Sclerosis 12
218 STR104 Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Facial Features 12
219 DWR021 Dwarfism, Mental Retardation, and Eye Abnormality 12
220 c OLV006 Olivopontocerebellar Atrophy Ii, Autosomal Recessive 12
221 HYP816 Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes 12
222 PRS056 Presenile Dementia, Kraepelin Type 11
223 ART149 Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies 11
224 OHD001 Ohdo Syndrome, Maat-Kievit-Brunner Type 11
225 CTR179 Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy 11
226 FCL076 Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 11
227 HRD179 Hair Defect-Photosensitivity-Intellectual Disability Syndrome 10
228 c RRD051 Rare Dementia 10
229 MNT299 Mental and Growth Retardation with Amblyopia 10
230 c ALP081 Alopecia Intellectual Disability Syndrome 2 9
231 CTS047 Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation 9
232 ATX043 Ataxia with Myoclonic Epilepsy and Presenile Dementia 9
233 SPN397 Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 9
234 DMN041 Dementia/parkinsonism with Non-Alzheimer Amyloid Plaques 9
235 EPL197 Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation 8
236 c MRN006 Marinesco-Sjogren-Like Syndrome 8
237 PSD115 Pseudouridinuria and Mental Defect 8
238 KNR001 Koone Rizzo Elias Syndrome 8
239 KRN006 Karandikar Maria Kamble Syndrome 7
240 WLK002 Walker Dyson Syndrome 7
241 P ATX048 Ataxia with Dementia 7
242 ZRR001 Zerres Rietschel Majewski Syndrome 7
243 CTS013 Cutis Verticis Gyrata Mental Deficiency 6
244 DKR001 Duker Weiss Siber Syndrome 6
245 SPS183 Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome 6
246 FBR095 Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation 6
247 SHR110 Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 6
248 CNT053 Cantu Sanchez-Corona Fragoso Syndrome 5
249 CRT027 Cartwright Nelson Fryns Syndrome 5
250 FNG007 Feingold Trainer Syndrome 5
251 HRD065 Hordnes Engebretsen Knudtson Syndrome 5
252 SMM001 Sammartino Decreccio Syndrome 5
253 MCR344 Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 5
254 INT089 Intellectual Deficit - Short Stature - Hypertelorism 5
255 PTR009 Pterygium Colli Mental Retardation Digital Anomalies 5
256 FRN054 Frontotemporal Degeneration with Dementia 5
257 KZN001 Kuzniecky Andermann Syndrome 4
258 GNT105 Genetic Dementia 4
259 KTS001 Katsantoni Papadakou Lagoyanni Syndrome 4
260 c INF189 Infectious Disease with Dementia 3
261 c BMN003 Biemond Syndrome Type 1 3
262 CNG099 Congenital Heart Disease Radio Ulnar Synostosis Mental Retardation 3
263 PRT057 Proteus Like Syndrome Mental Retardation Eye Defect 3
264 c LTN027 Late-Onset Ataxia with Dementia 3
265 c ERL061 Early-Onset Ataxia with Dementia 3
266 CRB214 Cerebral Lipidosis with Dementia 3
267 GNT109 Genetic Frontotemporal Degeneration with Dementia 2
268 EPL007 Epilepsy Mental Deterioration Finnish Type 2
269 P ATS364 Autism 70
270 TBC004 Tobacco Addiction 64
271 P PTT014 Pitt-Hopkins Syndrome 63
272 c PNS012 Paine Syndrome 61
273 ETN001 Eating Disorder 60
274 P ALC033 Alcohol Use Disorder 58
275 P PRV006 Pervasive Developmental Disorder 57
276 VSC002 Vascular Dementia 57
277 GNR004 Generalized Anxiety Disorder 56
278 SCH003 Schizophreniform Disorder 56
279 P SBS003 Substance Abuse 55
280 END040 Endogenous Depression 55
281 AMN003 Amnestic Disorder 54
282 P TCD001 Tic Disorder 53
283 BRD004 Borderline Personality Disorder 53
284 IMP005 Impotence 52
285 PNG002 Pain Agnosia 51
286 AVD001 Avoidant Personality Disorder 51
287 CND002 Conduct Disorder 51
288 PST021 Postpartum Depression 50
289 OPT003 Opiate Dependence 50
290 OPP004 Oppositional Defiant Disorder 49
291 CCN002 Cocaine Abuse 49
292 DYS009 Dysthymic Disorder 49
293 c PTT029 Pitt-Hopkins-Like Syndrome 1 49
294 PTH002 Pathological Gambling 49
295 WTH001 Withdrawal Disorder 48
296 CCN001 Cocaine Dependence 48
297 SBS004 Substance Dependence 48
298 SCL003 Social Phobia 48
299 SXL003 Sexual Disorder 47
300 DRG003 Drug Dependence 47
301 ACT084 Acute Stress Disorder 47
302 SPC010 Speech and Communication Disorders 47
303 ANT011 Antisocial Personality Disorder 47
304 SMT001 Somatization Disorder 46
305 MTS001 Mutism 46
306 DLY008 Delayed Sleep Phase Disorder 46
307 c SCH079 Schizophrenia 1 46
308 OPD001 Opioid Abuse 46
309 RMS001 Rem Sleep Behavior Disorder 46
310 ATY001 Atypical Depressive Disorder 45
311 c CNT015 Central Sleep Apnea 45
312 XGB001 Xia-Gibbs Syndrome 45
313 IMP006 Impulse Control Disorder 45
314 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 45
315 AGR002 Agoraphobia 45
316 RTR001 Retrograde Amnesia 44
317 P CHR345 Chronic Pain 44
318 SBC016 Subacute Delirium 44
319 c ERL020 Early-Onset Schizophrenia 44
320 CNN002 Cannabis Abuse 44
321 PRM003 Premature Ejaculation 44
322 HRN003 Heroin Dependence 44
323 SPC005 Speech Disorder 43
324 c WRB004 Warburg Micro Syndrome 3 43
325 c PNT049 Pontocerebellar Hypoplasia, Type 2d 43
326 c CHR056 Chronic Tic Disorder 43
327 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 42
328 c SCK015 Seckel Syndrome 2 41
329 PHB001 Phobic Disorder 41
330 P SYN057 Syndromic Intellectual Disability 41
331 INT025 Intermittent Explosive Disorder 41
332 PHB003 Phobia, Specific 41
333 NNT008 Neonatal Abstinence Syndrome 41
334 MRP001 Morphine Dependence 41
335 RDN001 Reading Disorder 40
336 GND002 Gender Identity Disorder 40
337 CYC005 Cyclothymic Disorder 40
338 c PTT030 Pitt-Hopkins-Like Syndrome 2 40
339 HYP030 Hypoactive Sexual Desire Disorder 40
340 SCH011 Schizotypal Personality Disorder 40
341 ADJ001 Adjustment Disorder 40
342 CNN001 Cannabis Dependence 40
343 ALX001 Alexia 39
344 c BRD021 Bardet-Biedl Syndrome 9 39
345 DSS010 Dissociative Disorder 39
346 c SCK011 Seckel Syndrome 5 39
347 TRN007 Transsexualism 39
348 ANT019 Anterograde Amnesia 38
349 ALX002 Alexithymia 38
350 MLN003 Melancholia 38
351 SPR012 Separation Anxiety Disorder 38
352 NMN001 Nominal Aphasia 38
353 KLP001 Kleptomania 38
354 c SCK010 Seckel Syndrome 4 37
355 AMP007 Amphetamine Abuse 37
356 c SPL033 Split-Hand/foot Malformation 6 37
357 c PTT042 Pitt-Hopkins-Like Syndrome 35
358 ART014 Articulation Disorder 35
359 DYS004 Dyscalculia 34
360 DVL001 Developmental Coordination Disorder 34
361 STR015 Stereotypic Movement Disorder 34
362 AGR018 Agraphia 34
363 ECH002 Echolalia 34
364 P SPC019 Specific Language Impairment 33
365 PSY003 Psychosexual Disorder 33
366 c SCH083 Schizophrenia 7 33
367 DRG001 Drug Psychosis 33
368 PRD002 Periodic Limb Movement Disorder 33
369 IDM001 Ideomotor Apraxia 32
370 c SCH045 Schizophrenia 12 32
371 P NNS031 Non-Syndromic Intellectual Disability 32
372 GTP001 Gait Apraxia 31
373 c SCH081 Schizophrenia 6 31
374 SBS005 Substance-Induced Psychosis 31
375 SPC003 Specific Developmental Disorder 31
376 ATY003 Atypical Autism 31
377 c SCH064 Schizophrenia 10 31
378 c ALC016 Alcohol Sensitivity, Acute 31
379 FCT008 Factitious Disorder 31
380 c MLT010 Multiple Personality Disorder 30
381 NRC003 Narcissistic Personality Disorder 30
382 PDP001 Pedophilia 30
383 DPN001 Dependent Personality Disorder 30
384 PYR003 Pyromania 30
385 c SCK033 Seckel Syndrome 8 30
386 HST001 Histrionic Personality Disorder 30
387 ANS006 Anosognosia 30
388 c CNT068 Central Pain Syndrome 29
389 MNC002 Munchausen by Proxy 29
390 DSS002 Dissociative Amnesia 29
391 SCH004 Schizoid Personality Disorder 28
392 ALC003 Alcoholic Psychosis 28
393 c SCH052 Schizophrenia 14 28
394 PRP015 Paraphilia Disorder 27
395 BRB003 Barbiturate Abuse 27
396 c ATS370 Autism 3 27
397 BRB002 Barbiturate Dependence 27
398 c ATS371 Autism 6 25
399 AMS001 Amusia 25
400 FTS001 Fetishism 25
401 CPG001 Capgras Syndrome 24
402 PHN001 Phencyclidine Abuse 24
403 EXH001 Exhibitionism 24
404 WRT002 Writing Disorder 24
405 c ATS376 Autism 15 24
406 TRN006 Transvestism 24
407 ANM002 Animal Phobia 24
408 c ATS365 Autism X-Linked 1 24
409 EXP001 Expressive Language Disorder 23
410 ADS003 Aids Phobia 23
411 HLL005 Hallucinogen Dependence 23
412 MXD044 Mixed Sleep Apnea 23
413 c ATS369 Autism 8 22
414 c ATS378 Autism 17 22
415 NSP004 Nosophobia 22
416 SXL001 Sexual Sadism 22
417 SXL002 Sexual Masochism 22
418 VYR001 Voyeurism 21
419 c ATS474 Autism 20 21
420 ASS001 Associative Agnosia 21
421 c FRM002 Form Agnosia 21
422 INT031 Integrative Agnosia 21
423 VRB001 Verbal Auditory Agnosia 20
424 FNG001 Finger Agnosia 20
425 CLT002 Cluttering 19
426 c ATS372 Autism 7 19
427 c SPC027 Specific Language Impairment 1 19
428 BST003 Bestiality 18
429 c ATS170 Autism 19 18
430 c ATS172 Autism 10 18
431 c ATS171 Autism 9 18
432 c SPC023 Specific Language Impairment 5 18
433 APP006 Apperceptive Agnosia 17
434 ATT001 Autotopagnosia 17
435 c SYN082 Syndromic X-Linked Intellectual Disability 14 17
436 FLY001 Flying Phobia 17
437 c ATS374 Autism 12 17
438 c TRN005 Transient Tic Disorder 17
439 c ATS375 Autism 13 16
440 AKN001 Akinetopsia 16
441 MXD002 Mixed Receptive-Expressive Language Disorder 16
442 c ATS373 Autism 11 16
443 PHN002 Phonagnosia 15
444 c SPC028 Specific Language Impairment 2 14
445 MRR002 Mirror Agnosia 13
446 HLL002 Hallucinogen Abuse 13
447 CLR009 Color Agnosia 12
448 c SPC015 Specific Language Impairment 4 12
449 TPG001 Topographical Agnosia 12
450 c RRP002 Rare Pervasive Developmental Disorder 11
451 c SPC029 Specific Language Impairment 3 11
452 c TSB001 T-Substance Anomaly 10
453 c SYN070 Syngap1-Related Non-Syndromic Intellectual Disability 10
454 EGD001 Ego-Dystonic Sexual Orientation 10
455 PSY001 Psychologic Vaginismus 8
456 PSY002 Psychologic Dyspareunia 6
457 SCL006 Social Emotional Agnosia 5
458 TMG001 Time Agnosia 5
459 SMN003 Semantic Agnosia 4
460 ANT016 Antidepressant Type Abuse 4
461 c RRD010 Rare Disease with Autism 4
462 c RRS015 Rare Syndromic Intellectual Disability 4
463 MNT304 Mental Retardation, X-Linked, with or Without Seizures, Arx-Related 31
464 MNT303 Mental Retardation, X-Linked, Syndromic, Cabezas Type 41
465 MSS001 Masa Syndrome 62
466 P CRB185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 55
467 c HYP553 Hyperphosphatasia with Mental Retardation Syndrome 3 24
468 P ERL057 Early Infantile Epileptic Encephalopathy 63
469 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 52
470 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 52
471 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 50
472 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 47
473 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 45
474 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 44
475 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 43
476 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 41
477 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 41
478 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 40
479 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 39
480 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 39
481 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 39
482 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 38
483 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 38
484 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 38
485 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 38
486 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 37
487 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 36
488 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 35
489 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 35
490 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 34
491 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 34
492 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 31
493 c EPL241 Epileptic Encephalopathy, Early Infantile, 76 30
494 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 29
495 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 29
496 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 28
497 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 28
498 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 28
499 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 27
500 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 27
501 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 27
502 c EPL240 Epileptic Encephalopathy, Early Infantile, 75 26
503 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 26
504 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 26
505 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 25
506 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 25
507 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 25
508 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 25
509 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 25
510 c EPL233 Epileptic Encephalopathy, Early Infantile, 69 25
511 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 25
512 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 25
513 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 24
514 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 24
515 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 24
516 c EPL238 Epileptic Encephalopathy, Early Infantile, 73 24
517 c EPL234 Epileptic Encephalopathy, Early Infantile, 70 24
518 c EPL252 Epileptic Encephalopathy, Early Infantile, 84 24
519 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 24
520 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 24
521 c EPL246 Epileptic Encephalopathy, Early Infantile, 80 24
522 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 24
523 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 24
524 c EPL232 Epileptic Encephalopathy, Early Infantile, 68 24
525 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 23
526 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 23
527 c EPL249 Epileptic Encephalopathy, Early Infantile, 82 23
528 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 23
529 c EPL243 Epileptic Encephalopathy, Early Infantile, 77 23
530 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 23
531 c EPL250 Epileptic Encephalopathy, Early Infantile, 83 23
532 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 23
533 c EPL235 Epileptic Encephalopathy, Early Infantile, 71 22
534 c EPL239 Epileptic Encephalopathy, Early Infantile, 74 22
535 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 22
536 c EPL248 Epileptic Encephalopathy, Early Infantile, 81 22
537 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 22
538 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 22
539 c EPL237 Epileptic Encephalopathy, Early Infantile, 72 22
540 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 22
541 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 21
542 c EPL244 Epileptic Encephalopathy, Early Infantile, 78 21
543 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 21
544 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 21
545 c EPL245 Epileptic Encephalopathy, Early Infantile, 79 20
546 c EPL255 Epileptic Encephalopathy, Early Infantile, 86 11
547 c ARX003 Arx-Related Epileptic Encephalopathy 5
548 c MNT301 Mental Retardation, X-Linked 21 30
549 CRP034 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 22
550 CRB151 Cerebral Creatine Deficiency Syndrome 1 52
551 P PLY180 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 56
552 c MNT305 Mental Retardation, X-Linked 12 29
553 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
554 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 65
555 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 56
556 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 44
557 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 44
558 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 43
559 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 42
560 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 41
561 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 40
562 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 39
563 RYN006 Raynaud-Claes Syndrome 28
564 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 6
565 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 6
566 WCK001 Wieacker-Wolff Syndrome 41
567 MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 30
568 RLN001 Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 23
569 P HYP441 Hyperphosphatasia with Mental Retardation Syndrome 1 42
570 c MNT200 Mental Retardation, X-Linked 97 25
571 c MNT155 Mental Retardation, Autosomal Recessive 2 24
572 c MNT196 Mental Retardation, X-Linked 92 19
573 GLL028 Gillespie Syndrome 53
574 P HRD021 Hereditary Sensory Neuropathy 48
575 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 47
576 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 43
577 CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 39
578 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 36
579 c NRP039 Neuropathy, Hereditary Sensory, Type Id 34
580 WSM002 Waisman Syndrome 32
581 c NRP036 Neuropathy, Hereditary Sensory, Type if 28
582 c SPT021 Sptlc1-Related Hereditary Sensory Neuropathy 15
583 EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 65
584 MNT302 Mental Retardation, X-Linked, Syndromic, Christianson Type 35
585 INT370 Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type 32
586 MNT307 Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 28
587 c CRB195 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 23
588 OHD004 Ohdo Syndrome 44
589 P CTS001 Cutis Laxa 65
590 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 55
591 c CTS045 Cutis Laxa, Autosomal Dominant 1 53
592 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 51
593 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 46
594 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45
595 c ATS393 Autosomal Recessive Cutis Laxa Type I 44
596 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 43
597 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 43
598 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 38
599 c CTS041 Cutis Laxa, Autosomal Dominant 3 38
600 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 38
601 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 37
602 c CTS031 Cutis Laxa, Autosomal Dominant 2 30
603 c MNT210 Mental Retardation, Autosomal Recessive 42 28
604 c ACQ027 Acquired Cutis Laxa 25
605 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
606 c LTB003 Ltbp4-Related Cutis Laxa 24
607 c ATS451 Autosomal Recessive Cutis Laxa Type 2 24
608 c EFM001 Efemp2-Related Cutis Laxa 23
609 MNT254 Mental Retardation Syndrome, Mietens-Weber Type 22
610 c ATP003 Atp6v0a2-Related Cutis Laxa 20
611 c FBL003 Fbln5-Related Cutis Laxa 19
612 CHR639 Chromosome Xp11.22 Duplication Syndrome 16
613 c MNT295 Mental Retardation, X-Linked, Syndromic 33 28
614 c CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 26
615 c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 23
616 P ATS366 Autism X-Linked 2 42
617 VLT001 Vulto-Van Silfhout-De Vries Syndrome 34
618 KHR001 Kahrizi Syndrome 33
619 INT372 Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type 33
620 MNT320 Mental Retardation, Autosomal Dominant 6, with or Without Seizures 30
621 NSC005 Nescav Syndrome 29
622 ARB005 Arboleda-Tham Syndrome 28
623 P NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 28
624 c CFF014 Coffin-Siris Syndrome 9 24
625 c GLY106 Glycosylphosphatidylinositol Biosynthesis Defect 11 24
626 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 23
627 c NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 22
628 P CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 56
629 OPT054 Opitz-Kaveggia Syndrome 54
630 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 47
631 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 43
632 c XLN110 X-Linked Charcot-Marie-Tooth Disease 42
633 MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 38
634 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 34
635 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 33
636 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 30
637 NRD057 Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects 29
638 ALP094 Alpha Thalassemia-Intellectual Disability Syndrome Type 1 25
639 c CHR697 Charcot-Marie-Tooth Disease X-Linked Recessive 4 22
640 ABD008 Abidi X-Linked Mental Retardation Syndrome 16
641 c CHR630 Chorea, Benign Hereditary 43
642 MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 31
643 P MNT198 Mental Retardation, X-Linked 98 31
644 MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 30
645 c MNT270 Mental Retardation, Autosomal Recessive 53 28
646 c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 27
647 c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 25
648 MNT107 Mental Retardation, Fra12a Type 20
649 P CHR636 Chorea, Benign Familial 13
650 P HNT016 Huntington Disease 72
651 P PRN023 Prion Disease 57
652 c HNT010 Huntington Disease-Like 1 53
653 c SPN311 Spinocerebellar Ataxia 13 50
654 c HNT011 Huntington Disease-Like 3 38
655 TMP011 Temple-Baraitser Syndrome 36
656 TNN015 Tonne-Kalscheuer Syndrome 28
657 RNL120 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation 28
658 c MNT183 Mental Retardation, Autosomal Recessive 36 28
659 INT373 Intellectual Developmental Disorder, Autosomal Dominant 44, with Microcephaly 27
660 c MNT166 Mental Retardation, Autosomal Recessive 39 27
661 c MNT216 Mental Retardation, Autosomal Recessive 41 26
662 c JVN015 Juvenile Huntington Disease 26
663 c MNT267 Mental Retardation, X-Linked 104 25
664 c MNT176 Mental Retardation, Autosomal Recessive 38 24
665 c INH032 Inherited Human Prion Disease 24
666 c MNT224 Mental Retardation, X-Linked 101 23
667 c MNT218 Mental Retardation, X-Linked 99 23
668 c MNT234 Mental Retardation, Autosomal Recessive 48 22
669 c MNT287 Mental Retardation, Autosomal Recessive 57 22
670 c MNT177 Mental Retardation, Autosomal Recessive 27 22
671 P HYP834 Hypomagnesemia, Seizures, and Mental Retardation 2 22
672 c MNT289 Mental Retardation, X-Linked 103 21
673 c MNT223 Mental Retardation, X-Linked 100 20
674 MNT283 Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly 20
675 c MNT195 Mental Retardation, X-Linked 96 20
676 c HNT013 Huntington Disease-Like Syndrome 20
677 INT377 Intellectual Developmental Disorder, Autosomal Dominant 63, with Macrocephaly 19
678 c MNT274 Mental Retardation, X-Linked 105 19
679 c MNT336 Mental Retardation, Autosomal Recessive 64 19
680 c MNT333 Mental Retardation, X-Linked 107 19
681 c MNT215 Mental Retardation, Autosomal Recessive 43 19
682 PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 17
683 c HNT014 Huntington Disease-Like Syndrome Due to C9orf72 Expansions 14
684 c SPR154 Sporadic Human Prion Disease 10
685 c ACQ069 Acquired Human Prion Disease 9
686 ACR008 Acrocallosal Syndrome 69
687 PRR007 Perry Syndrome 52
688 TMT002 Temtamy Preaxial Brachydactyly Syndrome 50
689 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 35
690 CKS001 Ck Syndrome 33
691 P GLY112 Glycosylphosphatidylinositol Biosynthesis Defect 1 32
692 MGL033 Megalocornea-Mental Retardation Syndrome 30
693 HYD054 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 26
694 c SPS092 Spastic Paraplegia 11 25
695 c GLY103 Glycosylphosphatidylinositol Biosynthesis Defect 15 25
696 MNT256 Mental Retardation, Buenos Aires Type 25
697 c GLY108 Glycosylphosphatidylinositol Biosynthesis Defect 18 24
698 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 21
699 RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 21
700 c GLY107 Glycosylphosphatidylinositol Biosynthesis Defect 17 20
701 BLP044 Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 20
702 EPL170 Epilepsy-Aphasia Spectrum 20
703 c GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 20
704 RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 20
705 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 18
706 GMS002 Gms Syndrome 18
707 RDL026 Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome 18
708 SCH022 Schimke X-Linked Mental Retardation Syndrome 16
709 ULN022 Ulnar Hypoplasia with Mental Retardation 15
710 WLF012 Wolff Mental Retardation Syndrome 15
711 SPS218 Spastic Diplegia and Mental Retardation 15
712 DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 14
713 KCN019 Kcnk9 Imprinting Syndrome 13
714 CRN293 Craniosynostosis-Mental Retardation-Clefting Syndrome 13
715 ULN019 Ulna Hypoplasia-Intellectual Disability Syndrome 12
716 STB003 Setbp1 Disorder 12
717 AMY015 Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 11
718 TRN026 Tranebjaerg Svejgaard Syndrome 9
719 P MCR010 Microcephaly 59
720 ALX003 Alexander Disease 59
721 BRN045 Brunner Syndrome 55
722 DND001 Dandy-Walker Syndrome 50
723 MRT007 Martsolf Syndrome 49
724 c PRM031 Primary Autosomal Recessive Microcephaly 47
725 NCL006 Nicolaides-Baraitser Syndrome 46
726 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 45
727 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 44
728 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 42
729 c PRM212 Primary Microcephaly 42
730 c MCR238 Microcephaly 7, Primary, Autosomal Recessive 41
731 c MCR320 Microcephaly 17, Primary, Autosomal Recessive 41
732 ART103 Arthrogryposis, Mental Retardation, and Seizures 40
733 TMT003 Temtamy Syndrome 39
734 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 37
735 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 36
736 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 34
737 c MCR329 Microcephaly, Autosomal Dominant 33
738 c MCR269 Microcephaly 15, Primary, Autosomal Recessive 33
739 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 31
740 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 31
741 CLF050 Cleft Palate, Cardiac Defects, and Mental Retardation 31
742 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 31
743 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 30
744 EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 30
745 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 30
746 MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 29
747 c MCR356 Microcephaly 19, Primary, Autosomal Recessive 29
748 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 26
749 c MCR360 Microcephaly 20, Primary, Autosomal Recessive 24
750 c MCR362 Microcephaly 22, Primary, Autosomal Recessive 20
751 SKL011 Skeletal Defects, Genital Hypoplasia, and Mental Retardation 20
752 c MCR372 Microcephaly 25, Primary, Autosomal Recessive 19
753 c MCR361 Microcephaly 21, Primary, Autosomal Recessive 19
754 c MCR368 Microcephaly 24, Primary, Autosomal Recessive 19
755 c MCR363 Microcephaly 23, Primary, Autosomal Recessive 18
756 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 66
757 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 61
758 c SPN301 Spinocerebellar Ataxia 2 58
759 P NRM002 Normal Pressure Hydrocephalus 54
760 MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 52
761 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 33
762 RCH010 Richieri-Costa/guion-Almeida Syndrome 26
763 SFR001 Sifrim-Hitz-Weiss Syndrome 26
764 c MNT334 Mental Retardation, Autosomal Dominant 57 25
765 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 25
766 MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 25
767 c MNT337 Mental Retardation, Autosomal Dominant 58 23
768 c INC034 Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 1 22
769 c MNT338 Mental Retardation, Autosomal Recessive 65 22
770 c MNT339 Mental Retardation, Autosomal Recessive 66 21
771 c HYD071 Hydrocephalus, Normal-Pressure, 1 20
772 c INT367 Intellectual Developmental Disorder 61 20
773 c INT375 Intellectual Developmental Disorder 62 20
774 MCR370 Macrocephaly, Acquired, with Impaired Intellectual Development 19
775 c MNT275 Mental Retardation, Autosomal Recessive 60 19
776 c INT348 Intellectual Developmental Disorder, Autosomal Recessive 71 19
777 c INT345 Intellectual Developmental Disorder, Autosomal Recessive 70 19
778 c MNT263 Mental Retardation, Autosomal Recessive 51 18
779 c INT344 Intellectual Developmental Disorder, Autosomal Recessive 69 17
780 c ALP075 Alopecia-Mental Retardation Syndrome 2 17
781 c INT349 Intellectual Developmental Disorder 59 17
782 c INT364 Intellectual Developmental Disorder, Autosomal Recessive 72 16
783 c MNT284 Mental Retardation, Autosomal Recessive 56 16
784 c INT335 Intellectual Developmental Disorder, Autosomal Recessive 67 16
785 MNT028 Mental Retardation Smith Fineman Myers Type 15
786 MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 6
787 ALD006 Aldred Syndrome 6
788 P MTC003 Metachromatic Leukodystrophy 70
789 c CNG411 Congenital Disorder of Glycosylation, Type in 68
790 c HRD010 Hereditary Spastic Paraplegia 66
791 P NRN021 Neuronal Ceroid Lipofuscinosis 64
792 LKN001 Leukoencephalopathy with Vanishing White Matter 59
793 P SPN309 Spinocerebellar Ataxia 6 59
794 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 57
795 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 57
796 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 56
797 c MCR256 Microphthalmia, Syndromic 9 56
798 c CNG415 Congenital Disorder of Glycosylation, Type Ia 55
799 P TRC102 Trichothiodystrophy 1, Photosensitive 55
800 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 55
801 c SPN294 Spinocerebellar Ataxia 1 53
802 c SPN291 Spinocerebellar Ataxia 7 52
803 c CNG189 Congenital Disorder of Glycosylation, Type Ib 52
804 c CNG191 Congenital Disorder of Glycosylation, Type Iia 51
805 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 51
806 c CNG206 Congenital Disorder of Glycosylation, Type Ie 51
807 c SPN296 Spinocerebellar Ataxia 17 51
808 c GNT049 Giant Axonal Neuropathy 1, Autosomal Recessive 50
809 WRN002 Wernicke-Korsakoff Syndrome 50
810 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 49
811 DBW001 Dubowitz Syndrome 49
812 c CNG389 Congenital Disorder of Glycosylation, Type Iim 49
813 c SPN106 Spinocerebellar Ataxia 5 49
814 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 48
815 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 47
816 c SPN105 Spinocerebellar Ataxia 4 47
817 c SPN312 Spinocerebellar Ataxia 14 47
818 CLB026 Colobomatous Microphthalmia 47
819 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 46
820 c CNG203 Congenital Disorder of Glycosylation, Type Iii 46
821 NRN008 Neuronal Intranuclear Inclusion Disease 46
822 c MCR261 Microphthalmia, Syndromic 2 46
823 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 46
824 c SPN293 Spinocerebellar Ataxia 12 45
825 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 45
826 P GNT009 Giant Axonal Neuropathy 45
827 c SPN097 Spinocerebellar Ataxia 23 45
828 c CNG199 Congenital Disorder of Glycosylation, Type Im 45
829 c SPN314 Spinocerebellar Ataxia 10 45
830 c CNG190 Congenital Disorder of Glycosylation, Type Iib 45
831 c SPN305 Spinocerebellar Ataxia 11 45
832 c SPN308 Spinocerebellar Ataxia 28 45
833 c CNG204 Congenital Disorder of Glycosylation, Type Iih 44
834 c CRD239 Ceroid Lipofuscinosis, Neuronal, 13 44
835 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 44
836 c CNG414 Congenital Disorder of Glycosylation, Type Iil 44
837 c CNG209 Congenital Disorder of Glycosylation, Type Iif 44
838 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 44
839 c CNG383 Congenital Disorder of Glycosylation, Type Iik 44
840 c CNG201 Congenital Disorder of Glycosylation, Type Iij 43
841 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 43
842 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 43
843 c CNG198 Congenital Disorder of Glycosylation, Type Il 43
844 c MCR241 Microphthalmia, Syndromic 3 43
845 c CNG185 Congenital Disorder of Glycosylation, Type Iig 43
846 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 43
847 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 42
848 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 42
849 c SPN101 Spinocerebellar Ataxia 29 42
850 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 42
851 c CNG197 Congenital Disorder of Glycosylation, Type Ih 42
852 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 42
853 c SPN265 Spinocerebellar Ataxia 36 42
854 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 42
855 CHR662 Chromosome 15q13.3 Deletion Syndrome 42
856 c SPN100 Spinocerebellar Ataxia 27 41
857 c CNG194 Congenital Disorder of Glycosylation, Type Ig 41
858 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 41
859 c SPN304 Spinocerebellar Ataxia 8 41
860 c SPN284 Spinocerebellar Ataxia 38 41
861 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 41
862 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 40
863 c SPN096 Spinocerebellar Ataxia 21 40
864 c SPN104 Spinocerebellar Ataxia 34 40
865 c MCR263 Microphthalmia, Syndromic 1 40
866 c SPN290 Spinocerebellar Ataxia 15 40
867 c CNG498 Congenital Disorder of Glycosylation, Type Iin 40
868 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 40
869 MST006 Mast Syndrome 40
870 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40
871 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 40
872 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 40
873 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 40
874 c CNG195 Congenital Disorder of Glycosylation, Type Id 40
875 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 40
876 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 40
877 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 39
878 c SPN266 Spinocerebellar Ataxia 35 39
879 c CNG497 Congenital Disorder of Glycosylation, Type Iio 39
880 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 39
881 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 39
882 c SPN103 Spinocerebellar Ataxia 31 39
883 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 38
884 SMT020 Smith-Kingsmore Syndrome 38
885 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 38
886 c CNG187 Congenital Disorder of Glycosylation, Type Iid 38
887 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 38
888 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 38
889 c CNG196 Congenital Disorder of Glycosylation, Type Ic 38
890 c CNG504 Congenital Disorder of Glycosylation, Type Iip 38
891 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 38
892 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 38
893 SPS226 Spastic Paraplegia, Ataxia, and Mental Retardation 37
894 BLB005 Beaulieu-Boycott-Innes Syndrome 37
895 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 37
896 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 37
897 c CNG200 Congenital Disorder of Glycosylation, Type Iq 37
898 c CNG379 Congenital Disorder of Glycosylation, Type It 36
899 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 36
900 c SPN247 Spinocerebellar Ataxia Type 19/22 36
901 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 36
902 c SPN283 Spinocerebellar Ataxia 37 36
903 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 36
904 c SPS237 Spastic Paraplegia 30, Autosomal Dominant 35
905 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 35
906 P SYN165 Syndromic Microphthalmia 35
907 c MCR312 Microphthalmia, Syndromic 10 35
908 c CNG205 Congenital Disorder of Glycosylation, Type Ij 35
909 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 35
910 c MCR251 Microphthalmia, Syndromic 6 35
911 c SPN419 Spinocerebellar Ataxia 45 35
912 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 35
913 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 35
914 c CNG386 Congenital Disorder of Glycosylation, Type Iu 35
915 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 35
916 c MCR245 Microphthalmia, Syndromic 8 34
917 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 34
918 c MCR252 Microphthalmia, Syndromic 5 34
919 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 34
920 c CNG192 Congenital Disorder of Glycosylation, Type Ik 34
921 c SPN099 Spinocerebellar Ataxia 26 34
922 c CNG193 Congenital Disorder of Glycosylation, Type Ip 34
923 c SPN102 Spinocerebellar Ataxia 30 34
924 c SPN299 Spinocerebellar Ataxia 20 33
925 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 33
926 c SPN095 Spinocerebellar Ataxia 19 32
927 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 32
928 c CNG188 Congenital Disorder of Glycosylation, Type if 32
929 c SPN383 Spinocerebellar Ataxia 42 32
930 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 31
931 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
932 c SPN094 Spinocerebellar Ataxia 18 31
933 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 31
934 c CNG416 Congenital Disorder of Glycosylation, Type Iy 30
935 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
936 c SPS021 Spastic Paraplegia 10 30
937 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 29
938 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 29
939 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 29
940 c SPN286 Spinocerebellar Ataxia 40 29
941 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
942 c CNG378 Congenital Disorder of Glycosylation, Type Ir 29
943 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 29
944 c SPN098 Spinocerebellar Ataxia 25 29
945 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 28
946 c MCR212 Microphthalmia, Syndromic 12 28
947 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 28
948 NSY001 N Syndrome 28
949 c TRC100 Trichothiodystrophy 3, Photosensitive 28
950 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 28
951 c SPS091 Spastic Paraplegia 4 28
952 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 28
953 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 28
954 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 28
955 PLL004 Pallister W Syndrome 28
956 c MTC074 Metachromatic Leukodystrophy, Adult Form 28
957 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 27
958 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 27
959 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 27
960 c SPN427 Spinocerebellar Ataxia 48 27
961 CHR506 Choroideremia, Deafness, and Mental Retardation 27
962 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 27
963 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 27
964 c CNG388 Congenital Disorder of Glycosylation, Type Iw 27
965 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
966 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 27
967 c HRD220 Hereditary Spastic Paraplegia 30 27
968 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 27
969 P SPS012 Spastic Paraplegia 3a 26
970 c SPN418 Spinocerebellar Ataxia 44 26
971 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 26
972 c SPN420 Spinocerebellar Ataxia 46 26
973 c SPN421 Spinocerebellar Ataxia 47 25
974 c MCR262 Microphthalmia, Syndromic 4 25
975 c SPS013 Spastic Paraplegia 8 25
976 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 25
977 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 25
978 c HRD186 Hereditary Spastic Paraplegia 51 24
979 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24
980 CRN267 Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation 24
981 c GNT040 Giant Axonal Neuropathy 2, Autosomal Dominant 24
982 c MCR228 Microphthalmia, Syndromic 13 24
983 c SPN372 Spinocerebellar Ataxia 43 23
984 c SPS039 Spastic Paraplegia 5a 23
985 c SPS238 Spastic Paraplegia 81, Autosomal Recessive 23
986 c SPN323 Spinocerebellar Ataxia 41 23
987 c SPS025 Spastic Paraplegia 15 23
988 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 23
989 c MCR217 Microphthalmia, Syndromic 11 23
990 c HRD188 Hereditary Spastic Paraplegia 72 23
991 c SPS036 Spastic Paraplegia 3 23
992 c SPS027 Spastic Paraplegia 17 22
993 MD2001 Med23 22
994 LWR016 Lowry-Maclean Syndrome 22
995 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 22
996 c HRD210 Hereditary Spastic Paraplegia 23 22
997 MTP004 Metaphyseal Acroscyphodysplasia 22
998 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 22
999 c SPS239 Spastic Paraplegia 82, Autosomal Recessive 21
1000 HNT017 Hunter-Mcalpine Craniosynostosis Syndrome 21
1001 GRR002 Gurrieri Syndrome 21
1002 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 21
1003 XLN162 X-Linked Intellectual Disability, Najm Type 21
1004 c CNG617 Congenital Disorder of Glycosylation, Type Iit 21
1005 c TRC099 Trichothiodystrophy 2, Photosensitive 21
1006 MCR305 Microcephaly with Cervical Spine Fusion Anomalies 20
1007 INT343 Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects 20
1008 c MNT181 Mental Retardation, Autosomal Recessive 35 19
1009 c SPS041 Spastic Paraplegia 6 19
1010 MCR052 Microcephaly Microcornea Syndrome Seemanova Type 19
1011 PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 19
1012 c SPN259 Spinocerebellar Ataxia 32 19
1013 OST047 Osteopenia and Sparse Hair 19
1014 c CNG615 Congenital Disorder of Glycosylation, Type Iir 18
1015 ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 18
1016 c SPS028 Spastic Paraplegia 18 17
1017 MRF017 Marfanoid Mental Retardation Syndrome, Autosomal 17
1018 HYP688 Hypospadias-Mental Retardation Syndrome 17
1019 MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 17
1020 LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 17
1021 KZL006 Kozlowski-Krajewska Syndrome 17
1022 THM019 Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay 17
1023 ARL006 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 17
1024 OPH013 Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency 17
1025 VND003 Van Den Bosch Syndrome 17
1026 MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 17
1027 c MNT172 Mental Retardation, Autosomal Recessive 25 17
1028 c SYN073 Syngap1-Related Intellectual Disability 17
1029 CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 16
1030 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 16
1031 c SPN440 Spinocerebellar Ataxia, Autosomal Recessive 28 16
1032 SPS194 Spastic Paresis, Glaucoma, and Mental Retardation 16
1033 DXT003 Dextrocardia with Unusual Facies and Microphthalmia 16
1034 ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 16
1035 CHR580 Choroid Plexus Calcification and Mental Retardation 16
1036 EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 16
1037 SPS047 Spastic Paraplegia with Precocious Puberty 16
1038 CHM001 Cahmr Syndrome 16
1039 c GNT045 Giant Axonal Neuropathy 2 16
1040 ART029 Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 16
1041 c SPS023 Spastic Paraplegia 13 16
1042 c MNT162 Mental Retardation, Autosomal Recessive 24 16
1043 BRC089 Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome 15
1044 c MNT163 Mental Retardation, Autosomal Recessive 30 15
1045 c MNT161 Mental Retardation, Autosomal Recessive 29 15
1046 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 15
1047 c SPS042 Spastic Paraplegia 9 15
1048 c SPN107 Spinocerebellar Ataxia 9 15
1049 c SPS032 Spastic Paraplegia 24 15
1050 c ALP063 Alopecia-Mental Retardation Syndrome 3 15
1051 CTS046 Cutis Verticis Gyrata and Mental Retardation 15
1052 c BCL018 Bcl11a-Related Intellectual Disability 15
1053 SPS195 Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 14
1054 c MNT170 Mental Retardation, Autosomal Recessive 23 14
1055 SPS193 Spastic Paraplegia, Epilepsy, and Mental Retardation 14
1056 c SPS038 Spastic Paraplegia 39 14
1057 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 14
1058 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 14
1059 CRM012 Cree Mental Retardation Syndrome 13
1060 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 13
1061 EHL082 Ehlers-Danlos Syndrome, Beasley-Cohen Type 13
1062 PLN009 Palant Cleft Palate Syndrome 13
1063 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 13
1064 XLN128 X-Linked Intellectual Disability, Abidi Type 13
1065 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 13
1066 c SPS022 Spastic Paraplegia 12 13
1067 c SPS029 Spastic Paraplegia 19 13
1068 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 13
1069 c CSK002 Cask-Related Intellectual Disability 13
1070 c SPS035 Spastic Paraplegia 29 13
1071 c SPS034 Spastic Paraplegia 26 13
1072 INT286 Intellectual Disability-Spasticity-Ectrodactyly Syndrome 13
1073 MND028 Mandibulofacial Dysostosis with Mental Retardation 13
1074 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 12
1075 c SPS033 Spastic Paraplegia 25 12
1076 c SPS161 Spastic Paraplegia 32 12
1077 c SPS024 Spastic Paraplegia 14 12
1078 SPN396 Spinal Muscular Atrophy with Mental Retardation 12
1079 DVR003 Devriendt Syndrome 12
1080 PRK068 Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments 12
1081 c SPS165 Spastic Paraplegia 47 12
1082 MNT316 Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 11
1083 c SPS230 Spastic Paraplegia Type 49 11
1084 TNK001 Tonoki Syndrome 11
1085 c SPS026 Spastic Paraplegia 16 11
1086 c HVP001 Hivep2-Related Intellectual Disability 10
1087 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 10
1088 HRD035 Hair Defect with Photosensitivity and Mental Retardation 10
1089 c TRR002 Trio-Related Intellectual Disability 10
1090 c WCR002 Wac-Related Intellectual Disability 10
1091 VTL010 Vitiligo, Progressive, with Mental Retardation and Urethral Duplication 10
1092 c WDR002 Wdr26-Related Intellectual Disability 9
1093 SCR041 Sucrosuria, Hiatus Hernia and Mental Retardation 9
1094 MNT250 Mental Retardation with Spastic Paraplegia 9
1095 P RRN017 Rare Intellectual Disability 9
1096 HYP783 Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 9
1097 SPS217 Spastic Paraplegia, Optic Atrophy, and Dementia 9
1098 c ATS410 Autosomal Dominant Intellectual Disability 49 8
1099 c ATS360 Autosomal Recessive Intellectual Disability 58 8
1100 IND013 Indolylacroyl Glycinuria with Mental Retardation 8
1101 c PPP001 Ppp2r5d-Related Intellectual Disability 8
1102 NRD075 Neurodegenerative Disease with Dementia 8
1103 PFF003 Pfeiffer Mayer Syndrome 7
1104 SNG001 Singh Chhaparwal Dhanda Syndrome 7
1105 PSS002 Piussan Lenaerts Mathieu Syndrome 7
1106 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 7
1107 c SPS040 Spastic Paraplegia 5b 7
1108 CNT052 Cantalamessa Baldini Ambrosi Syndrome 7
1109 ZZM001 Zazam Sheriff Phillips Syndrome 7
1110 c ATS403 Autosomal Dominant Intellectual Disability 40 6
1111 MCR072 Microdontia Hypodontia Short Stature 6
1112 c GRD008 Grid2-Related Spinocerebellar Ataxia 6
1113 P DSR041 Disorder of Multiple Glycosylation 6
1114 ICH006 Ichthyosis Alopecia Eclabion Ectropion Mental Retardation 5
1115 KSZ002 Kosztolanyi Syndrome 5
1116 KZL003 Kozlowski Ouvrier Syndrome 5
1117 c ATS348 Autosomal Dominant Intellectual Disability 30 5
1118 SPN344 Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 5
1119 ANM047 Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/mental Retardation Syndrome 5
1120 c SN3001 Sin3a-Related Intellectual Disability Syndrome 5
1121 MCR342 Microcephaly, Macrotia, and Mental Retardation 4
1122 PRG135 Progressive Dementia with Neuroserpin Inclusion Bodies 4
1123 SHL003 Shoulder Girdle Defect Mental Retardation Familial 4
1124 c ACS002 Acsl4-Related Intellectual Disability 3
1125 c ARX002 Arx-Related Intellectual Disability 3
1126 c DDX001 Ddx3x-Related Intellectual Disability 3
1127 RRC034 Rare Cerebrovascular Dementia 3
1128 MTB017 Metabolic Disease with Dementia 3
1129 CNT055 Cantu Sanchez-Corona Hernandez Syndrome 3
1130 GRX001 Grix Blankenship Peterson Syndrome 3
1131 GNT110 Genetic Neurodegenerative Disease with Dementia 3
1132 CRN064 Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation 2
1133 P JBR020 Joubert Syndrome 1 72
1134 P KBK002 Kabuki Syndrome 1 67
1135 c ATS007 Autism Spectrum Disorder 67
1136 ALC007 Alcohol Dependence 66
1137 P BRD002 Bardet-Biedl Syndrome 66
1138 ANR007 Anorexia Nervosa 63
1139 c BRD010 Bardet-Biedl Syndrome 1 62
1140 MDD011 Mood Disorder 62
1141 FCS002 Fucosidosis 61
1142 CHR066 Chronic Fatigue Syndrome 61
1143 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 60
1144 BLM002 Bulimia Nervosa 57
1145 c LSS005 Lissencephaly 1 56
1146 P SCK004 Seckel Syndrome 56
1147 c JBR041 Joubert Syndrome 3 53
1148 c BRD011 Bardet-Biedl Syndrome 10 53
1149 NRT001 Neurotic Disorder 53
1150 c LSS006 Lissencephaly 2 52
1151 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 52
1152 P NRC002 Narcolepsy 52
1153 APR001 Apraxia 52
1154 c BRD012 Bardet-Biedl Syndrome 11 51
1155 P LSS002 Lissencephaly 51
1156 c JBR018 Joubert Syndrome 4 51
1157 BRX001 Bruxism 50
1158 PRN009 Paranoid Schizophrenia 50
1159 c BRD020 Bardet-Biedl Syndrome 8 50
1160 c SCK009 Seckel Syndrome 1 49
1161 c NRC009 Narcolepsy 1 49
1162 c BPL002 Bipolar I Disorder 49
1163 LRN003 Learning Disability 49
1164 c JBR004 Joubert Syndrome 2 48
1165 c JBR012 Joubert Syndrome 5 47
1166 DLS001 Delusional Disorder 47
1167 HYP016 Hypochondriasis 47
1168 c CRD225 Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant 46
1169 c JBR011 Joubert Syndrome 7 46
1170 CHR492 Chromosome 13q14 Deletion Syndrome 46
1171 c JBR025 Joubert Syndrome 17 46
1172 c JBR035 Joubert Syndrome 24 46
1173 OBS003 Obsessive-Compulsive Personality Disorder 46
1174 c BRD047 Bardet-Biedl Syndrome 16 46
1175 c JBR015 Joubert Syndrome 6 45
1176 c BRD013 Bardet-Biedl Syndrome 12 45
1177 c JBR024 Joubert Syndrome 14 44
1178 c BRD033 Bardet-Biedl Syndrome 13 44
1179 DPR002 Depersonalization Disorder 43
1180 c JBR014 Joubert Syndrome 9 43
1181 P MJR007 Major Affective Disorder 1 43
1182 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 42
1183 c BRD044 Bardet-Biedl Syndrome 17 42
1184 c JBR013 Joubert Syndrome 8 42
1185 c JBR028 Joubert Syndrome 13 42
1186 c MNT319 Mental Retardation, Autosomal Dominant 20 42
1187 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 41
1188 c JBR016 Joubert Syndrome 10 41
1189 P HYP263 Hypersomnia 41
1190 c ADV003 Advanced Sleep Phase Syndrome, Familial, 1 41
1191 CRB148 Cerebral Creatine Deficiency Syndrome 3 41
1192 PCD001 Pica Disease 41
1193 c JBR026 Joubert Syndrome 15 40
1194 BDY001 Body Dysmorphic Disorder 40
1195 P DYS005 Dyslexia 40
1196 c JBR031 Joubert Syndrome 21 40
1197 c BRD048 Bardet-Biedl Syndrome 18 40
1198 c BRD017 Bardet-Biedl Syndrome 5 38
1199 c SPL034 Split-Hand/foot Malformation 4 38
1200 c LSS010 Lissencephaly 4 38
1201 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 37
1202 c BRD045 Bardet-Biedl Syndrome 19 37
1203 c BRD035 Bardet-Biedl Syndrome 15 37
1204 c WRB005 Warburg Micro Syndrome 4 37
1205 c LSS009 Lissencephaly 3 37
1206 CMB002 Combat Disorder 36
1207 DYS003 Dysgraphia 36
1208 c JBR042 Joubert Syndrome 23 36
1209 c NRC010 Narcolepsy 2 36
1210 c SCK029 Seckel Syndrome 7 36
1211 ALC001 Alcohol-Related Birth Defect 36
1212 c CFF011 Coffin-Siris Syndrome 6 35
1213 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 35
1214 c MJR008 Major Affective Disorder 2 35
1215 c JBR037 Joubert Syndrome 26 34
1216 c JBR030 Joubert Syndrome 22 34
1217 c JBR022 Joubert Syndrome 20 34
1218 VSL003 Visual Agnosia 34
1219 c JBR036 Joubert Syndrome 25 33
1220 c RCR002 Recurrent Hypersomnia 33
1221 c SCH080 Schizophrenia 3 32
1222 RMN001 Rumination Disorder 31
1223 c KBK003 Kabuki Syndrome 2 31
1224 c SCH082 Schizophrenia 5 31
1225 MGC007 Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations 31
1226 ALC002 Alcohol-Related Neurodevelopmental Disorder 30
1227 c JBR045 Joubert Syndrome 33 30
1228 SML010 Simultanagnosia 30
1229 WTS001 Watson Syndrome 30
1230 c SCK032 Seckel Syndrome 6 29
1231 PRN010 Paranoid Personality Disorder 29
1232 c BRD050 Bardet-Biedl Syndrome 21 29
1233 c SCH084 Schizophrenia 8 28
1234 VSC004 Vasculogenic Impotence 28
1235 c ATS173 Autism 18 28
1236 c SCH053 Schizophrenia 13 28
1237 c JBR044 Joubert Syndrome 31 28
1238 c ATS367 Autism X-Linked 3 28
1239 c DYS121 Dyslexia 1 27
1240 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 27
1241 c LSS025 Lissencephaly 5 26
1242 c JBR027 Joubert Syndrome 16 26
1243 CNC001 Cancerophobia 26
1244 c JBR021 Joubert Syndrome 18 26
1245 c SCH061 Schizophrenia 16 26
1246 c ADV006 Advanced Sleep Phase Syndrome, Familial, 3 25
1247 c JBR043 Joubert Syndrome 32 25
1248 c JBR040 Joubert Syndrome 30 25
1249 c JBR039 Joubert Syndrome 28 25
1250 c ATS268 Autism X-Linked 4 25
1251 c ATS358 Autism X-Linked 6 24
1252 c BRD051 Bardet-Biedl Syndrome 20 24
1253 PRT001 Partial Fetal Alcohol Syndrome 24
1254 CRT007 Cortical Deafness 24
1255 c LSS035 Lissencephaly 8 24
1256 c DYS120 Dyslexia 2 24
1257 c JBR047 Joubert Syndrome 35 24
1258 c SCK037 Seckel Syndrome 9 24
1259 ELC001 Elective Mutism 23
1260 c SCK038 Seckel Syndrome 10 23
1261 ADT001 Auditory Agnosia 22
1262 c JBR038 Joubert Syndrome 27 22
1263 TCT002 Tactile Agnosia 22
1264 c JBR048 Joubert Syndrome 36 22
1265 c SCH086 Schizophrenia 11 22
1266 c NRC017 Narcolepsy 7 20
1267 c ATS377 Autism 16 20
1268 AST004 Astereognosia 20
1269 c ADV007 Advanced Sleep Phase Syndrome, Familial, 2 20
1270 DVL019 Developmental Delay and Seizures with or Without Movement Abnormalities 19
1271 c ATS177 Autism X-Linked 5 18
1272 c LSS042 Lissencephaly 10 18
1273 c NRC011 Narcolepsy 3 17
1274 c DYS125 Dyslexia 8 16
1275 c SYN077 Syndromic X-Linked Intellectual Disability 12 15
1276 c NRC012 Narcolepsy 4 14
1277 c NRC013 Narcolepsy 5 14
1278 c NRC018 Narcolepsy 6 14
1279 c DYS122 Dyslexia 3 13
1280 c DYS124 Dyslexia 6 12
1281 c DYS123 Dyslexia 5 11
1282 c DYS126 Dyslexia 9 10
1283 VSL001 Visual Verbal Agnosia 7
1284 GNR012 Generalized Gangliosidoses 5
1285 c BPL001 Bipolar Ll Disorder 5
1286 FTL063 Fetal Nicotine Spectrum Disorder 3
1287 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 66
1288 ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 41
1289 LKN025 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 65
1290 CHR696 Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia 32
1291 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 29
1292 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 48
1293 ENC039 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 49
1294 c AMY091 Amyotrophic Lateral Sclerosis 1 89
1295 INS024 Insulin-Like Growth Factor I 79
1296 CRT072 Creutzfeldt-Jakob Disease 70
1297 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 64
1298 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 60
1299 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 59
1300 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 48
1301 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 45
1302 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 45
1303 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 44
1304 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 40
1305 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 39
1306 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 38
1307 P MSC002 Muscular Dystrophy-Dystroglycanopathy 35
1308 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 32
1309 c CNG546 Congenital Muscular Dystrophy-Dystroglycanopathy Type a 31
1310 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 30
1311 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 29
1312 c CNG557 Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 29
1313 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 29
1314 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 29
1315 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 28
1316 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 27
1317 c CNG553 Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 27
1318 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 27
1319 c CNG558 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 26
1320 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 26
1321 c CNG554 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 24
1322 c CNG551 Congenital Muscular Dystrophy-Dystroglycanopathy A7 24
1323 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 22
1324 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 22
1325 c CNG559 Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 21
1326 c CNG550 Congenital Muscular Dystrophy-Dystroglycanopathy A14 20
1327 c CNG547 Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 19
1328 c CNG556 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 17
1329 c CNG552 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 11
1330 c CNG555 Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 9
1331 c CNG548 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 9
1332 c CNG549 Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 9
1333 RCH002 Richards-Rundle Syndrome 33
1334 OPT062 Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures 31
1335 SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 27
1336 CRN268 Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis 25
1337 BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 24
1338 HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 15
1339 LBN005 Lubani-Al Saleh-Teebi Syndrome 6
1340 BHR001 Behr Syndrome 51
1341 c WRB002 Warburg Micro Syndrome 1 50
1342 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 49
1343 MRS004 Marshall-Smith Syndrome 49
1344 c WRB003 Warburg Micro Syndrome 2 41
1345 P WRB001 Warburg Micro Syndrome 40
1346 P MPL001 Maple Syrup Urine Disease 69
1347 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 52
1348 GRD009 Gordon Holmes Syndrome 51
1349 FTL002 Fatal Familial Insomnia 49
1350 c CRD226 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive 46
1351 c DFN036 Deafness, X-Linked 2 44
1352 c DFN194 Deafness, X-Linked 1 36
1353 c DFN147 Deafness, X-Linked 4 33
1354 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 30
1355 c DFN276 Deafness, X-Linked 6 28
1356 MMS001 Momo Syndrome 28
1357 c XLN004 X-Linked Nonsyndromic Deafness 28
1358 c DFN146 Deafness, X-Linked 3 27
1359 c DFN186 Deafness, Y-Linked 1 26
1360 c INT262 Intermediate Maple Syrup Urine Disease 23
1361 P YLN003 Y-Linked Deafness 21
1362 c DFN370 Deafness, X-Linked 7 20
1363 ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 18
1364 c DFN372 Deafness, Y-Linked 2 16
1365 c MNN047 Mannosidosis, Alpha B, Lysosomal 66
1366 c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 62
1367 HPT019 Hepatic Encephalopathy 60
1368 AYM001 Ayme-Gripp Syndrome 57
1369 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 55
1370 P MNN019 Mannosidosis, Beta a, Lysosomal 51
1371 c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 49
1372 c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 48
1373 CRP033 Corpus Callosum, Agenesis of, with Abnormal Genitalia 39
1374 ADL060 Adult Polyglucosan Body Disease 36
1375 WYB002 Wyburn-Mason Syndrome 30
1376 HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 22
1377 MCR066 Microcephaly-Cardiomyopathy 21
1378 NRP046 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers 21
1379 KNN010 Kennerknecht Syndrome 20
1380 CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 19
1381 MCR306 Microcephaly-Deafness Syndrome 19
1382 c OST149 Osteolysis Syndrome, Recessive 18
1383 MYT024 Myotonia with Skeletal Abnormalities and Mental Retardation 18
1384 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 17
1385 WLM019 Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 17
1386 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 16
1387 FKY002 Fukuyama Type Muscular Dystrophy 16
1388 CDL001 Caudal Appendage Deafness 15
1389 KFF001 Kifafa Seizure Disorder 14
1390 CMR005 Camera-Marugo-Cohen Syndrome 12
1391 PRN067 Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 10
1392 RMS002 Ramos Arroyo Clark Syndrome 10
1393 P PRM337 Primary Osteolysis 8
1394 DSL004 Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 8
1395 PFF002 Pfeiffer Kapferer Syndrome 8
1396 ART113 Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability 8
1397 XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 6
1398 RNL121 Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 5
1399 EMP013 Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation 5
1400 BRN028 Brain Cancer 74
1401 ANX010 Anxiety 73
1402 P SLP006 Sleep Apnea 69
1403 P MJR001 Major Depressive Disorder 68
1404 PSY004 Psychotic Disorder 67
1405 GLL008 Gilles De La Tourette Syndrome 66
1406 P ATT013 Attention Deficit-Hyperactivity Disorder 65
1407 DMN031 Dementia, Lewy Body 65
1408 P PRS038 Personality Disorder 65
1409 APN008 Apnea, Obstructive Sleep 64
1410 P GLC113 Galactosemia I 64
1411 c PRX045 Peroxisome Biogenesis Disorder 1b 61
1412 PST028 Post-Traumatic Stress Disorder 58
1413 DSS008 Disease of Mental Health 58
1414 MNT002 Mental Depression 58
1415 APH002 Aphasia 57
1416 P BPL003 Bipolar Disorder 56
1417 c GLC112 Galactosemia Iii 56
1418 c PRX059 Peroxisome Biogenesis Disorder 1a 56
1419 P AGN002 Agnosia 55
1420 FRN051 Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related 55
1421 P PNC025 Panic Disorder 53
1422 STT041 Stuttering 52
1423 P BSL038 Basal Ganglia Calcification, Idiopathic, 1 52
1424 P NRD007 Neurodegeneration with Brain Iron Accumulation 52
1425 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 51
1426 c CNG208 Congenital Disorder of Glycosylation, Type Iic 51
1427 TRC010 Trichotillomania 51
1428 SCH012 Schizoaffective Disorder 50
1429 c HNT004 Huntington Disease-Like 2 50
1430 SMT006 Somatoform Disorder 50
1431 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 48
1432 HLS003 Helsmoortel-Van Der Aa Syndrome 47
1433 c BRD032 Bardet-Biedl Syndrome 14 47
1434 c GLC111 Galactosemia Ii 46
1435 CNV002 Conversion Disorder 45
1436 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 45
1437 LRN001 Laurence-Moon Syndrome 45
1438 MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 44
1439 CHL012 Childhood Disintegrative Disease 44
1440 VNC001 Von Economo's Disease 44
1441 DCR008 Dicarboxylic Aminoaciduria 43
1442 FRG010 Fragile X Tremor/ataxia Syndrome 43
1443 NNS032 Non-Syndromic X-Linked Intellectual Disability 43
1444 GLT018 Glut1 Deficiency Syndrome 1 43
1445 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 42
1446 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 41
1447 P PRR025 Perrault Syndrome 41
1448 c SCH056 Schizophrenia 15 41
1449 BSL009 Basal Ganglia Calcification 41
1450 c ATS383 Autosomal Dominant Non-Syndromic Intellectual Disability 1 41
1451 SYN089 Syndromic X-Linked Intellectual Disability Snyder Type 39
1452 MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 38
1453 c SCH051 Schizophrenia 4 37
1454 c MNT262 Mental Retardation, Autosomal Dominant 42 37
1455 c PRX063 Peroxisome Biogenesis Disorder 2a 36
1456 c RBN008 Rubinstein-Taybi Syndrome 2 36
1457 c PRX055 Peroxisome Biogenesis Disorder 11a 36
1458 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 35
1459 c MNT143 Mental Retardation, Autosomal Dominant 13 35
1460 c SCH075 Schizophrenia 19 35
1461 c PRX060 Peroxisome Biogenesis Disorder 5a 34
1462 MCR025 Microhydranencephaly 33
1463 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 33
1464 c SCH085 Schizophrenia 2 33
1465 c MNT222 Mental Retardation, Autosomal Dominant 29 33
1466 c PRX051 Peroxisome Biogenesis Disorder 6a 33
1467 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 33
1468 P PRS013 Prosopagnosia 33
1469 c PRX054 Peroxisome Biogenesis Disorder 12a 32
1470 c PRR020 Perrault Syndrome 1 32
1471 c SCH073 Schizophrenia 9 32
1472 c MNT157 Mental Retardation, Autosomal Dominant 18 32
1473 c PRX057 Peroxisome Biogenesis Disorder 4a 31
1474 c SCH087 Schizophrenia 18 31
1475 c ATS384 Autosomal Dominant Non-Syndromic Intellectual Disability 2 31
1476 c PRX048 Peroxisome Biogenesis Disorder 10a 31
1477 c PRX065 Peroxisome Biogenesis Disorder 3a 30
1478 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 30
1479 c PRX050 Peroxisome Biogenesis Disorder 9b 30
1480 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 30
1481 c PRX046 Peroxisome Biogenesis Disorder 7a 29
1482 PRT055 Prieto X-Linked Mental Retardation Syndrome 29
1483 c PRX043 Peroxisome Biogenesis Disorder 6b 29
1484 SYN092 Syndromic X-Linked Intellectual Disability Cabezas Type 28
1485 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 28
1486 CMB083 Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia 28
1487 c PRK081 Parkinson Disease 19a, Juvenile-Onset 28
1488 c PRX091 Peroxisome Biogenesis Disorder 8a 27
1489 c PRX052 Peroxisome Biogenesis Disorder 13a 27
1490 c PRX053 Peroxisome Biogenesis Disorder 14b 27
1491 NRD028 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 27
1492 c PRX058 Peroxisome Biogenesis Disorder 4b 27
1493 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 27
1494 c PRX047 Peroxisome Biogenesis Disorder 5b 27
1495 P PRX064 Peroxisome Biogenesis Disorder 2b 26
1496 VNS015 Van Esch-O'driscoll Syndrome 26
1497 c PRX066 Peroxisome Biogenesis Disorder 3b 26
1498 URC006 Urocanase Deficiency 25
1499 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 25
1500 c BSL046 Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive 25
1501 DSS025 Dissociative Seizures 25
1502 c PRX062 Peroxisome Biogenesis Disorder 8b 25
1503 c PRX056 Peroxisome Biogenesis Disorder 11b 25
1504 c PRR024 Perrault Syndrome 3 25
1505 c BSL032 Basal Ganglia Calcification, Idiopathic, 4 24
1506 c PRR021 Perrault Syndrome 4 24
1507 c PRX068 Peroxisome Biogenesis Disorder 7b 24
1508 c BSL035 Basal Ganglia Calcification, Idiopathic, 5 24
1509 c PRR022 Perrault Syndrome 2 24
1510 c BSL039 Basal Ganglia Calcification, Idiopathic, 6 24
1511 DRG004 Drug-Induced Mental Disorder 24
1512 c MNT191 Mental Retardation, X-Linked, Syndromic 17 23
1513 c ATS389 Autosomal Dominant Non-Syndromic Intellectual Disability 8 23
1514 c PRR026 Perrault Syndrome 5 23
1515 c BSL049 Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive 23
1516 c ATS388 Autosomal Dominant Non-Syndromic Intellectual Disability 6 23
1517 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 23
1518 c MNT325 Mental Retardation, Autosomal Recessive 61 22
1519 INT342 Intellectual Developmental Disorder, X-Linked 108 22
1520 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 21
1521 c PRS058 Prosopagnosia, Hereditary 21
1522 c GLC115 Galactosemia Iv 20
1523 c PRX089 Peroxisome Biogenesis Disorder 10b 20
1524 NRD025 Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations 20
1525 c PRR033 Perrault Syndrome 6 19
1526 c PNC122 Panic Disorder 1 19
1527 MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 18
1528 c MJR014 Major Depressive Disorder 2 18
1529 c MJR013 Major Depressive Disorder 1 16
1530 ALC013 Alcohol-Induced Mental Disorder 15
1531 c ATT020 Attention Deficit-Hyperactivity Disorder 2 14
1532 ORG003 Organic Mood Syndrome 14
1533 c PNC070 Panic Disorder 2 13
1534 c PNC068 Panic Disorder 3 12
1535 c ATT019 Attention Deficit-Hyperactivity Disorder 1 11
1536 c ATT022 Attention Deficit-Hyperactivity Disorder 4 11
1537 c ATT021 Attention Deficit-Hyperactivity Disorder 3 11
1538 SYN081 Syndromic X-Linked Intellectual Disability Abidi Type 9
1539 SYN093 Syndromic X-Linked Intellectual Disability Raymond Type 7
1540 SYN091 Syndromic X-Linked Intellectual Disability Nascimento Type 7
1541 MTH021 Methylmalonic Acidemia with Homocystinuria 46
1542 ATX037 Ataxia-Deafness-Retardation Syndrome 23
1543 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 22
1544 BDH001 Boudhina Yedes Khiari Syndrome 8
1545 P ALZ034 Alzheimer Disease 88
1546 P SCH015 Schizophrenia 74
1547 OBS002 Obsessive-Compulsive Disorder 68
1548 c TYR012 Tyrosinemia, Type I 66
1549 P CFF008 Coffin-Siris Syndrome 1 63
1550 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 61
1551 P SLP005 Sleep Disorder 59
1552 P TYR004 Tyrosinemia 58
1553 SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 58
1554 c ALZ056 Alzheimer Disease 3 57
1555 P FTL001 Fetal Alcohol Syndrome 57
1556 P RST001 Restless Legs Syndrome 54
1557 P CNG010 Congenital Stationary Night Blindness 54
1558 c NGH026 Night Blindness, Congenital Stationary, Type 1a 52
1559 c BRD014 Bardet-Biedl Syndrome 2 52
1560 c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 51
1561 FRN013 Frontotemporal Dementia, Chromosome 3-Linked 51
1562 SCH074 Schuurs-Hoeijmakers Syndrome 49
1563 c ALZ049 Alzheimer Disease 2 49
1564 c ALZ054 Alzheimer Disease 4 49
1565 P ASP001 Asperger Syndrome 48
1566 P SLL003 Salla Disease 48
1567 c PNT034 Pontocerebellar Hypoplasia, Type 2e 48
1568 CHR174 Christianson Syndrome 46
1569 P PNT019 Pontocerebellar Hypoplasia 46
1570 c BRD016 Bardet-Biedl Syndrome 4 46
1571 P LSS036 Lissencephaly, X-Linked, 1 45
1572 c PNT036 Pontocerebellar Hypoplasia, Type 6 45
1573 WHT019 White-Sutton Syndrome 44
1574 c PNT018 Pontocerebellar Hypoplasia, Type 1b 44
1575 c NGH010 Night Blindness, Congenital Stationary, Autosomal Dominant 2 44
1576 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 43
1577 c PNT039 Pontocerebellar Hypoplasia, Type 7 43
1578 c FTL006 Fetal Alcohol Spectrum Disorder 43
1579 c ALZ045 Alzheimer Disease 9 43
1580 c CFF010 Coffin-Siris Syndrome 3 42
1581 c CFF009 Coffin-Siris Syndrome 4 42
1582 c PNT032 Pontocerebellar Hypoplasia, Type 9 41
1583 c CFF007 Coffin-Siris Syndrome 2 41
1584 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 41
1585 c MNT242 Mental Retardation, Autosomal Dominant 40 41
1586 c MCR255 Microcephaly 9, Primary, Autosomal Recessive 41
1587 c PNT044 Pontocerebellar Hypoplasia, Type 2a 41
1588 c PNT043 Pontocerebellar Hypoplasia, Type 4 40
1589 c TYR011 Tyrosinemia, Type Iii 40
1590 c AMY069 Amyotrophic Lateral Sclerosis 21 40
1591 c PNT037 Pontocerebellar Hypoplasia, Type 3 40
1592 TRN012 Transient Global Amnesia 39
1593 c PNT045 Pontocerebellar Hypoplasia, Type 1a 39
1594 c NGH024 Night Blindness, Congenital Stationary, Type 1h 39
1595 CHR590 Chromosome 15q11-Q13 Duplication Syndrome 39
1596 c PNT010 Pontocerebellar Hypoplasia Type 1 39
1597 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 38
1598 PRT052 Partington X-Linked Mental Retardation Syndrome 38
1599 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 38
1600 c MNT332 Mental Retardation, Autosomal Dominant 56 38
1601 c PNT033 Pontocerebellar Hypoplasia, Type 10 37
1602 c ALZ057 Alzheimer Disease 10 37
1603 c NGH008 Night Blindness, Congenital Stationary, Autosomal Dominant 3 37
1604 c MNT240 Mental Retardation, Autosomal Dominant 33 37
1605 c NGH027 Night Blindness, Congenital Stationary, Type 1c 37
1606 c ALZ062 Alzheimer Disease 19 37
1607 c NGH029 Night Blindness, Congenital Stationary, Type 1e 37
1608 IMM056 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 36
1609 c NGH025 Night Blindness, Congenital Stationary, Type 2a 36
1610 c LSS037 Lissencephaly, X-Linked, 2 35
1611 c ALZ063 Alzheimer's Disease 1 34
1612 c NGH021 Night Blindness, Congenital Stationary, Autosomal Dominant 1 34
1613 c ALZ032 Alzheimer Disease 18 34
1614 c RST012 Restless Legs Syndrome 1 34
1615 c NGH007 Night Blindness, Congenital Stationary, Type 1b 33
1616 c ALZ058 Alzheimer Disease 11 32
1617 c ATS387 Autosomal Dominant Non-Syndromic Intellectual Disability 5 32
1618 c PNT030 Pontocerebellar Hypoplasia, Type 8 32
1619 c MNT323 Mental Retardation, Autosomal Dominant 48 31
1620 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 30
1621 c ALZ050 Alzheimer Disease 5 30
1622 c ATS385 Autosomal Dominant Non-Syndromic Intellectual Disability 3 30
1623 MLL023 Mullegama-Klein-Martinez Syndrome 30
1624 c ALZ061 Alzheimer Disease 15 30
1625 c PNT046 Pontocerebellar Hypoplasia, Type 5 29
1626 c MNT186 Mental Retardation, Autosomal Dominant 10 29
1627 c ALZ031 Alzheimer Disease 17 29
1628 c ALZ060 Alzheimer Disease 14 29
1629 c MNT246 Mental Retardation, Autosomal Dominant 38 29
1630 c ALZ015 Alzheimer Disease 6 29
1631 c PNT050 Pontocerebellar Hypoplasia, Type 11 28
1632 c ATS417 Autosomal Dominant Non-Syndromic Intellectual Disability 19 28
1633 c PNT051 Pontocerebellar Hypoplasia, Type 1d 27
1634 c ALZ014 Alzheimer Disease 16 27
1635 c PNT035 Pontocerebellar Hypoplasia, Type 1c 27
1636 c MNT219 Mental Retardation, Autosomal Dominant 30 27
1637 c PNT047 Pontocerebellar Hypoplasia, Type 2b 27
1638 c ALZ012 Alzheimer Disease 12 27
1639 c ALZ059 Alzheimer Disease 13 27
1640 c ALZ016 Alzheimer Disease 8 26
1641 c MNT272 Mental Retardation, Autosomal Dominant 41 26
1642 c NGH028 Night Blindness, Congenital Stationary, Type 1d 26
1643 c MNT280 Mental Retardation, Autosomal Dominant 43 25
1644 c ATS386 Autosomal Dominant Non-Syndromic Intellectual Disability 4 25
1645 c NGH030 Night Blindness, Congenital Stationary, Type 1f 25
1646 P SYN064 Syndromic X-Linked Intellectual Disability 25
1647 c CFF012 Coffin-Siris Syndrome 7 24
1648 c ALZ053 Alzheimer Disease 7 24
1649 SYN079 Syndromic X-Linked Intellectual Disability Siderius Type 24
1650 c MNT236 Mental Retardation, Autosomal Dominant 39 24
1651 c MNT184 Mental Retardation, Autosomal Dominant 11 24
1652 c CFF006 Coffin-Siris Syndrome 5 24
1653 c RST020 Restless Legs Syndrome 6 24
1654 MLS013 Miles-Carpenter Syndrome 24
1655 c ATS168 Autosomal Dominant Congenital Stationary Night Blindness 24
1656 c MNT328 Mental Retardation, Autosomal Dominant 52 24
1657 c CFF013 Coffin-Siris Syndrome 8 23
1658 c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 23
1659 c PLY181 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 23
1660 c MNT238 Mental Retardation, Autosomal Dominant 34 23
1661 c MNT329 Mental Retardation, Autosomal Dominant 53 23
1662 c MNT294 Mental Retardation, X-Linked 106 23
1663 c MNT326 Mental Retardation, Autosomal Dominant 50 23
1664 c ASP032 Asperger Syndrome 1 23
1665 c PNT048 Pontocerebellar Hypoplasia, Type 2c 22
1666 c PNT053 Pontocerebellar Hypoplasia, Type 13 22
1667 c MNT330 Mental Retardation, Autosomal Dominant 54 22
1668 c MNT286 Mental Retardation, Autosomal Dominant 45 22
1669 c PNT052 Pontocerebellar Hypoplasia, Type 12 22
1670 c MNT327 Mental Retardation, Autosomal Dominant 51 21
1671 c ATS476 Autosomal Dominant Non-Syndromic Intellectual Disability 32 21
1672 c CFF016 Coffin-Siris Syndrome 11 21
1673 ARM006 Armfield X-Linked Mental Retardation Syndrome 21
1674 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
1675 c CFF015 Coffin-Siris Syndrome 10 20
1676 c ATS475 Autosomal Dominant Non-Syndromic Intellectual Disability 24 20
1677 c ATS390 Autosomal Dominant Non-Syndromic Intellectual Disability 9 20
1678 PGN002 Paganini-Miozzo Syndrome 20
1679 c NGH022 Night Blindness, Congenital Stationary, Type 1g 20
1680 c MNT278 Mental Retardation, Autosomal Dominant 46 20
1681 c SYN078 Syndromic X-Linked Intellectual Disability Type 10 19
1682 c ASP031 Asperger Syndrome 2 17
1683 CRP036 Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome 16
1684 BSL048 Basilicata-Akhtar Syndrome 15
1685 c RST016 Restless Legs Syndrome 7 15
1686 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 14
1687 c ATS422 Autosomal Dominant Non-Syndromic Intellectual Disability 27 13
1688 c ASP033 Asperger Syndrome 3 13
1689 c RST013 Restless Legs Syndrome 2 13
1690 c RST014 Restless Legs Syndrome 3 13
1691 c ATS477 Autosomal Dominant Non-Syndromic Intellectual Disability 44 13
1692 c ASP034 Asperger Syndrome 4 12
1693 c INT094 Intermediate Severe Salla Disease 12
1694 c RST015 Restless Legs Syndrome 4 12
1695 c RST021 Restless Legs Syndrome 5 12
1696 SYN083 Syndromic X-Linked Intellectual Disability Shashi Type 11
1697 c RST019 Restless Legs Syndrome 8 11
1698 c RRS011 Rare Sleep Disorder 11
1699 c ATS394 Autosomal Dominant Mental Retardation 55 5
1700 SYN094 Syndromic X-Linked Mental Retardation Hough Type 3
1701 P RTT002 Rett Syndrome 80
1702 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 70
1703 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 69
1704 PCK003 Pick Disease of Brain 68
1705 P FRN006 Frontotemporal Dementia 68
1706 P ORT004 Orthostatic Intolerance 62
1707 SBC001 Subacute Sclerosing Panencephalitis 56
1708 LBS001 Lubs X-Linked Mental Retardation Syndrome 51
1709 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 50
1710 c BRD018 Bardet-Biedl Syndrome 6 49
1711 RNP003 Renpenning Syndrome 1 49
1712 PTC002 Potocki-Lupski Syndrome 48
1713 c PRK085 Parkinson Disease 1, Autosomal Dominant 47
1714 MHM001 Mehmo Syndrome 47
1715 KRT013 Keratolytic Winter Erythema 46
1716 P HYP111 Hyperprolinemia 44
1717 ADN022 Adenylosuccinase Deficiency 44
1718 c HYP597 Hyperprolinemia, Type Ii 43
1719 CHR594 Chromosome 3q29 Deletion Syndrome 42
1720 c HYP248 Hyperprolinemia, Type I 41
1721 c MNT245 Mental Retardation, Autosomal Dominant 36 41
1722 GLT019 Glut1 Deficiency Syndrome 2 40
1723 P ADV001 Advanced Sleep Phase Syndrome 40
1724 c ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 36
1725 AMN007 Aminoacylase 1 Deficiency 36
1726 KLV001 Kluver-Bucy Syndrome 34
1727 c MNT226 Mental Retardation, Autosomal Dominant 31 33
1728 c MNT158 Mental Retardation, Autosomal Dominant 22 30
1729 c RTT008 Rett Syndrome, Congenital Variant 30
1730 P ENC054 Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations 30
1731 HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 30
1732 c MNT296 Mental Retardation, X-Linked, Syndromic 34 29
1733 c CHR344 Chronic Orthostatic Intolerance 17
1734 c SYN056 Syndromic X-Linked Intellectual Disability 7 16
1735 c MCP022 Mecp2-Related Severe Neonatal Encephalopathy 13
1736 KFM001 Kaufman Oculocerebrofacial Syndrome 56
1737 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 55
1738 P CRB154 Cerebrocostomandibular Syndrome 55
1739 P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 54
1740 CRB150 Cerebral Creatine Deficiency Syndrome 2 53
1741 P RHZ001 Rhizomelic Chondrodysplasia Punctata 53
1742 c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 53
1743 P D2H002 D-2-Hydroxyglutaric Aciduria 1 52
1744 AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 52
1745 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 49
1746 c L2H001 L-2-Hydroxyglutaric Aciduria 49
1747 PTT059 Pettigrew Syndrome 49
1748 P MNT135 Mental Retardation, X-Linked, Syndromic 13 47
1749 c SPL067 Split-Hand/foot Malformation 1 46
1750 MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 46
1751 c SPL024 Split-Hand/foot Malformation 3 45
1752 MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 45
1753 c ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 44
1754 c BRD019 Bardet-Biedl Syndrome 7 43
1755 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 43
1756 KLN009 Kleine-Levin Hibernation Syndrome 42
1757 c CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 41
1758 P SPL061 Split Hand-Foot Malformation 40
1759 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 40
1760 c 2HY001 2-Hydroxyglutaric Aciduria 38
1761 c CRT089 Cortical Dysplasia, Complex, with Other Brain Malformations 10 36
1762 MTH026 Methemoglobinemia Due to Deficiency of Methemoglobin Reductase 36
1763 c MNT179 Mental Retardation, Autosomal Dominant 21 35
1764 c D2H003 D-2-Hydroxyglutaric Aciduria 2 34
1765 CLR029 Clark-Baraitser Syndrome 33
1766 PRK087 Parkinson-Dementia Syndrome 33
1767 c SPL070 Split-Hand/foot Malformation 2 32
1768 c CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 32
1769 c SPL025 Split-Hand/foot Malformation 5 31
1770 c CRT081 Cortical Dysplasia, Complex, with Other Brain Malformations 7 31
1771 c MNT239 Mental Retardation, Autosomal Dominant 35 30
1772 c CRT082 Cortical Dysplasia, Complex, with Other Brain Malformations 8 27
1773 SYN090 Syndromic X-Linked Intellectual Disability Turner Type 25
1774 c CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 25
1775 c MCR331 Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii 24
1776 c MNT207 Mental Retardation, X-Linked, Syndromic 32 24
1777 c CRT073 Cortical Dysplasia, Complex, with Other Brain Malformations 5 24
1778 c CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 23
1779 c CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 22
1780 c CRT087 Cortical Dysplasia, Complex, with Other Brain Malformations 9 21
1781 P CMP082 Complex Cortical Dysplasia with Other Brain Malformations 21
1782 c MNT197 Mental Retardation, X-Linked, Syndromic 9 18
1783 c CRB078 Cerebrocostomandibular-Like Syndrome 7
1784 SND001 Sandhoff Disease 68
1785 ART002 Arts Syndrome 64
1786 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 58
1787 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 52
1788 P MNT185 Mental Retardation, Autosomal Dominant 7 45
1789 MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 40
1790 LTH002 Lathosterolosis 40
1791 DGL002 D-Glyceric Aciduria 39
1792 c MNT212 Mental Retardation, Autosomal Dominant 26 36
1793 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 34
1794 SHH004 Shaheen Syndrome 32
1795 c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 32
1796 c MNT211 Mental Retardation, Autosomal Dominant 23 29
1797 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51
1798 BRJ001 Borjeson-Forssman-Lehmann Syndrome 49
1799 P STR001 Striatonigral Degeneration 39
1800 c STR085 Striatonigral Degeneration, Infantile 33
1801 c MNT298 Mental Retardation, X-Linked, Syndromic, 35 28
1802 c MNT279 Mental Retardation, Autosomal Dominant 47 26
1803 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 49
1804 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 48



Content
Loading form....