Mental Diseases Category (1784 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 38
3 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 45
4 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 62
5 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 39
6 P HRD084 Hereditary Cerebral Amyloid Angiopathy 31
7 MNT056 Mental Retardation, X-Linked, Syndromic, Nascimento Type 29
8 KHL003 Kohlschutter-Tonz Syndrome 64
9 GRS011 Gerstmann-Straussler Disease 55
10 MNT307 Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 28
11 c AMY107 Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia 25
12 STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 25
13 KFR001 Kufor-Rakeb Syndrome 59
14 XLN134 X-Linked Intellectual Disability, Siderius Type 26
15 MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 22
16 CHR639 Chromosome Xp11.22 Duplication Syndrome 16
17 c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 23
18 DNT005 Dentatorubral-Pallidoluysian Atrophy 57
19 c INC031 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 32
20 P SPN202 Spinocerebellar Ataxia, X-Linked 1 30
21 AMY102 Amyotrophic Lateral Sclerosis, Juvenile, with Dementia 26
22 c AMY104 Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia 25
23 FRN030 Frontotemporal Dementia with Parkinsonism-17 24
24 c SPN364 Spinocerebellar Ataxia, X-Linked 3 21
25 DMN012 Dementia - Subcortical 21
26 c SPN203 Spinocerebellar Ataxia, X-Linked 5 18
27 c SPN363 Spinocerebellar Ataxia, X-Linked 4 17
28 c SPN403 Spinocerebellar Ataxia, X-Linked 2 13
29 SMN008 Semantic Dementia 47
30 P AMY106 Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia 43
31 BNS003 Binswanger's Disease 42
32 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 27
33 MNT257 Mental Retardation, X-Linked, with Craniofacial Dysmorphism 18
34 ABD008 Abidi X-Linked Mental Retardation Syndrome 16
35 CTS047 Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation 11
36 DPR016 Depression 63
37 c FRN043 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 35
38 c FRN045 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 35
39 c FRN040 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 34
40 DMN026 Dementia Pugilistica 27
41 c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 26
42 c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 25
43 P ALP076 Alopecia-Mental Retardation Syndrome 1 21
44 P INC029 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 38
45 c INC015 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 36
46 c AMY105 Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia 27
47 AMM001 Amme Complex 24
48 P HYP834 Hypomagnesemia, Seizures, and Mental Retardation 2 22
49 c HYP830 Hypomagnesemia, Seizures, and Mental Retardation 1 20
50 c AMY099 Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia 20
51 c CRB193 Cerebral Amyloid Angiopathy, App-Related 57
52 TMT002 Temtamy Preaxial Brachydactyly Syndrome 50
53 CKS001 Ck Syndrome 33
54 HYD054 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 26
55 VNS015 Van Esch-O'driscoll Syndrome 24
56 c AMY074 Amyotrophic Lateral Sclerosis Type 14 21
57 BLP044 Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 20
58 RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 20
59 GMS002 Gms Syndrome 18
60 LMB066 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 17
61 MNT311 Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration 17
62 SCH022 Schimke X-Linked Mental Retardation Syndrome 16
63 SPN347 Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 15
64 ULN022 Ulnar Hypoplasia with Mental Retardation 15
65 WLF012 Wolff Mental Retardation Syndrome 15
66 CTR173 Cataract, Ataxia, Short Stature, and Mental Retardation 15
67 CRN293 Craniosynostosis-Mental Retardation-Clefting Syndrome 14
68 KCN019 Kcnk9 Imprinting Syndrome 14
69 c MNT313 Mental Health Wellness 2 10
70 TRN026 Tranebjaerg Svejgaard Syndrome 9
71 c RBN021 Rubinstein-Taybi Syndrome 1 56
72 BRN045 Brunner Syndrome 53
73 MRT007 Martsolf Syndrome 47
74 PSD088 Pseudobulbar Affect 36
75 SBC025 Subcortical Arteriosclerotic Encephalopathy 20
76 MNT306 Mental Retardation, X-Linked, Syndromic, Houge Type 19
77 SBN004 Sabinas Brittle Hair Syndrome 17
78 P RBN007 Rubinstein Taybi Like Syndrome 8
79 P PRK057 Parkinson Disease, Late-Onset 76
80 CLF027 Cleft Palate, Isolated 64
81 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 60
82 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 52
83 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 47
84 c HRD173 Hereditary Late-Onset Parkinson Disease 43
85 c PRK052 Parkinson Disease 17 43
86 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 42
87 ADS004 Aids Dementia Complex 40
88 c PRK093 Parkinson Disease 8, Autosomal Dominant 39
89 c ERL056 Early-Onset Parkinson's Disease 39
90 c PRK071 Parkinson Disease 14, Autosomal Recessive 37
91 c PRK090 Parkinson Disease 3, Autosomal Dominant 37
92 c PRK065 Parkinson Disease 20, Early-Onset 33
93 c PRK025 Parkinson Disease 10 33
94 c JVN058 Juvenile-Onset Parkinson's Disease 29
95 c PRK091 Parkinson Disease 4, Autosomal Dominant 27
96 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 26
97 MNT118 Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 26
98 c PRK098 Parkinson Disease 5, Autosomal Dominant 26
99 RCH010 Richieri-Costa/guion-Almeida Syndrome 25
100 SFR001 Sifrim-Hitz-Weiss Syndrome 25
101 CLF050 Cleft Palate, Cardiac Defects, and Mental Retardation 25
102 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 25
103 c PRK094 Parkinson Disease 11, Autosomal Dominant 25
104 c PRK070 Parkinson Disease 21 24
105 c PRK099 Parkinson Disease 18, Autosomal Dominant 24
106 c PRK096 Parkinson Disease 13, Autosomal Dominant 23
107 c PRK083 Parkinson Disease 22, Autosomal Dominant 23
108 P INC033 Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2 23
109 MCR378 Microangiopathy and Leukoencephalopathy, Pontine, Autosomal Dominant 22
110 c PRK022 Parkinson Disease 12 21
111 DRM023 Dermoodontodysplasia 21
112 P INT336 Intellectual Developmental Disorder, Autosomal Recessive 68 20
113 MNT331 Mental Retardation, Autosomal Dominant 55, with Seizures 18
114 c PRK058 Parkinson Disease 16 17
115 c INC034 Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 1 16
116 c INT335 Intellectual Developmental Disorder, Autosomal Recessive 67 16
117 c VPS003 Vps35-Related Parkinson Disease 10
118 PLT011 Pilotto Syndrome 8
119 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 69
120 P MCR256 Microphthalmia, Syndromic 9 61
121 c KLF004 Kleefstra Syndrome 1 55
122 P MRN003 Marinesco-Sjogren Syndrome 52
123 P OLV001 Olivopontocerebellar Atrophy 52
124 c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 47
125 CLB026 Colobomatous Microphthalmia 46
126 WDM004 Wiedemann-Steiner Syndrome 46
127 c MCR261 Microphthalmia, Syndromic 2 45
128 P PLL002 Pellagra 45
129 c MCR241 Microphthalmia, Syndromic 3 42
130 c AMY090 Amyotrophic Lateral Sclerosis 8 42
131 c MCR263 Microphthalmia, Syndromic 1 41
132 P KLF001 Kleefstra Syndrome 40
133 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 39
134 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 38
135 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 38
136 SPS226 Spastic Paraplegia, Ataxia, and Mental Retardation 37
137 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 37
138 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 37
139 c AMY055 Amyotrophic Lateral Sclerosis 17 36
140 c AMY083 Amyotrophic Lateral Sclerosis 11 36
141 c AMY088 Amyotrophic Lateral Sclerosis 3 35
142 c AMY062 Amyotrophic Lateral Sclerosis 12 35
143 c CRB170 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 35
144 c MCR312 Microphthalmia, Syndromic 10 34
145 c AMY085 Amyotrophic Lateral Sclerosis 9 34
146 c AMY059 Amyotrophic Lateral Sclerosis 19 34
147 c MCR245 Microphthalmia, Syndromic 8 34
148 c MCR251 Microphthalmia, Syndromic 6 33
149 c AMY067 Amyotrophic Lateral Sclerosis 18 33
150 c MCR252 Microphthalmia, Syndromic 5 32
151 c AMY022 Amyotrophic Lateral Sclerosis Type 5 32
152 c AMY063 Amyotrophic Lateral Sclerosis 20 32
153 c AMY023 Amyotrophic Lateral Sclerosis Type 6 29
154 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 29
155 c MCR212 Microphthalmia, Syndromic 12 27
156 c AMY089 Amyotrophic Lateral Sclerosis 7 27
157 CHR669 Chromosome 2p16.3 Deletion Syndrome 26
158 c MCR262 Microphthalmia, Syndromic 4 25
159 c AMY079 Amyotrophic Lateral Sclerosis Type 15 25
160 c KLF005 Kleefstra Syndrome 2 24
161 c MCR228 Microphthalmia, Syndromic 13 23
162 HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 23
163 c AMY110 Amyotrophic Lateral Sclerosis 24 22
164 LWR016 Lowry-Maclean Syndrome 22
165 c MCR217 Microphthalmia, Syndromic 11 21
166 c AMY108 Amyotrophic Lateral Sclerosis 23 21
167 CHR397 Chromosome Xp11.3 Deletion Syndrome 21
168 P ALP068 Alopecia-Intellectual Disability Syndrome 21
169 c AMY112 Amyotrophic Lateral Sclerosis 25 21
170 MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 21
171 P BMN004 Biemond Syndrome Ii 21
172 MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 20
173 FLL034 Fallot Complex with Severe Mental and Growth Retardation 19
174 MCR052 Microcephaly Microcornea Syndrome Seemanova Type 19
175 BRC121 Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation 18
176 ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 18
177 c PLL014 Pellagra-Like Syndrome 18
178 EPL162 Epilepsy-Telangiectasia 17
179 THM019 Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay 17
180 ARL006 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 17
181 c AMY109 Amyotrophic Lateral Sclerosis Type 22 16
182 CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 16
183 CHR580 Choroid Plexus Calcification and Mental Retardation 16
184 CHM001 Cahmr Syndrome 16
185 SHR089 Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome 16
186 OPH013 Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency 16
187 c C9R002 C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia 16
188 c KLF002 Kleefstra Syndrome Due to a Point Mutation 16
189 ART055 Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies 15
190 c ALP075 Alopecia-Mental Retardation Syndrome 2 15
191 BRC089 Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome 15
192 c OLV005 Olivopontocerebellar Atrophy V 15
193 c ALP063 Alopecia-Mental Retardation Syndrome 3 15
194 HRD035 Hair Defect with Photosensitivity and Mental Retardation 15
195 INT361 Intellectual Developmental Disorder 60 with Seizures 14
196 CRN103 Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 14
197 GRW038 Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 14
198 XLN128 X-Linked Intellectual Disability, Abidi Type 13
199 INT286 Intellectual Disability-Spasticity-Ectrodactyly Syndrome 13
200 MND028 Mandibulofacial Dysostosis with Mental Retardation 13
201 c TRD001 Tardbp-Related Amyotrophic Lateral Sclerosis 12
202 MNT316 Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 12
203 c OLV006 Olivopontocerebellar Atrophy Ii, Autosomal Recessive 12
204 c INT367 Intellectual Developmental Disorder 61 12
205 PRK068 Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments 12
206 HYP816 Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes 12
207 PRS056 Presenile Dementia, Kraepelin Type 11
208 ART149 Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies 11
209 HRD179 Hair Defect-Photosensitivity-Intellectual Disability Syndrome 11
210 OHD001 Ohdo Syndrome, Maat-Kievit-Brunner Type 11
211 FCL076 Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 11
212 PRN067 Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 10
213 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 10
214 SPS217 Spastic Paraplegia, Optic Atrophy, and Dementia 10
215 VTL010 Vitiligo, Progressive, with Mental Retardation and Urethral Duplication 10
216 SCR041 Sucrosuria, Hiatus Hernia and Mental Retardation 9
217 MNT250 Mental Retardation with Spastic Paraplegia 9
218 c MRN006 Marinesco-Sjogren-Like Syndrome 9
219 HYP783 Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 9
220 ATX043 Ataxia with Myoclonic Epilepsy and Presenile Dementia 9
221 DMN041 Dementia/parkinsonism with Non-Alzheimer Amyloid Plaques 9
222 SNG001 Singh Chhaparwal Dhanda Syndrome 7
223 P ATX048 Ataxia with Dementia 7
224 CNT052 Cantalamessa Baldini Ambrosi Syndrome 7
225 KRN006 Karandikar Maria Kamble Syndrome 7
226 PSS002 Piussan Lenaerts Mathieu Syndrome 7
227 WLK002 Walker Dyson Syndrome 7
228 ZZM001 Zazam Sheriff Phillips Syndrome 7
229 CTS013 Cutis Verticis Gyrata Mental Deficiency 6
230 SPS183 Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome 6
231 FBR095 Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation 6
232 SHR110 Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 6
233 CNT053 Cantu Sanchez-Corona Fragoso Syndrome 5
234 CRT027 Cartwright Nelson Fryns Syndrome 5
235 FNG007 Feingold Trainer Syndrome 5
236 KZL003 Kozlowski Ouvrier Syndrome 5
237 SMM001 Sammartino Decreccio Syndrome 5
238 ANM047 Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/mental Retardation Syndrome 5
239 FRN054 Frontotemporal Degeneration with Dementia 5
240 GNT105 Genetic Dementia 4
241 c BMN003 Biemond Syndrome Type 1 3
242 PRT057 Proteus Like Syndrome Mental Retardation Eye Defect 3
243 c LTN027 Late-Onset Ataxia with Dementia 3
244 c ERL061 Early-Onset Ataxia with Dementia 3
245 CRB214 Cerebral Lipidosis with Dementia 3
246 GNT109 Genetic Frontotemporal Degeneration with Dementia 2
247 OBS490 Obsolete: Genetic Cerebrovascular Dementia 2
248 P DMN002 Dementia 67
249 P ORT004 Orthostatic Intolerance 63
250 ETN001 Eating Disorder 59
251 P PRV006 Pervasive Developmental Disorder 57
252 VSC002 Vascular Dementia 57
253 SCH003 Schizophreniform Disorder 56
254 GNR004 Generalized Anxiety Disorder 56
255 P SBS003 Substance Abuse 54
256 AMN003 Amnestic Disorder 54
257 END040 Endogenous Depression 54
258 P TCD001 Tic Disorder 54
259 AVD001 Avoidant Personality Disorder 54
260 BRD004 Borderline Personality Disorder 53
261 IMP005 Impotence 52
262 CND002 Conduct Disorder 51
263 PNG002 Pain Agnosia 51
264 PST021 Postpartum Depression 50
265 OPT003 Opiate Dependence 50
266 OPP004 Oppositional Defiant Disorder 49
267 PTH002 Pathological Gambling 48
268 WTH001 Withdrawal Disorder 48
269 CCN001 Cocaine Dependence 48
270 SCL003 Social Phobia 48
271 CCN002 Cocaine Abuse 48
272 SXL003 Sexual Disorder 48
273 c SCH079 Schizophrenia 1 48
274 DYS009 Dysthymic Disorder 48
275 SBS004 Substance Dependence 48
276 ACT084 Acute Stress Disorder 48
277 SMT001 Somatization Disorder 48
278 SPC010 Speech and Communication Disorders 47
279 DRG003 Drug Dependence 47
280 DLY008 Delayed Sleep Phase Disorder 47
281 ANT011 Antisocial Personality Disorder 46
282 OPD001 Opioid Abuse 45
283 ATY001 Atypical Depressive Disorder 45
284 MTS001 Mutism 45
285 RTR001 Retrograde Amnesia 45
286 IMP006 Impulse Control Disorder 45
287 RMS001 Rem Sleep Behavior Disorder 44
288 AGR002 Agoraphobia 44
289 HRN003 Heroin Dependence 44
290 PRM003 Premature Ejaculation 44
291 SBC016 Subacute Delirium 44
292 CNN002 Cannabis Abuse 44
293 OBS003 Obsessive-Compulsive Personality Disorder 44
294 c CHR056 Chronic Tic Disorder 43
295 ALX001 Alexia 42
296 SPC005 Speech Disorder 42
297 PHB001 Phobic Disorder 41
298 GND002 Gender Identity Disorder 41
299 ADJ001 Adjustment Disorder 41
300 MRP001 Morphine Dependence 41
301 RDN001 Reading Disorder 40
302 CYC005 Cyclothymic Disorder 40
303 P DYS005 Dyslexia 40
304 TRN007 Transsexualism 40
305 PHB003 Phobia, Specific 40
306 CHR590 Chromosome 15q11-Q13 Duplication Syndrome 40
307 PRD002 Periodic Limb Movement Disorder 40
308 TRN012 Transient Global Amnesia 40
309 AMP007 Amphetamine Abuse 40
310 P SYN057 Syndromic Intellectual Disability 39
311 ALX002 Alexithymia 39
312 MLN003 Melancholia 39
313 SCH011 Schizotypal Personality Disorder 39
314 HYP030 Hypoactive Sexual Desire Disorder 39
315 NMN001 Nominal Aphasia 39
316 c SCH082 Schizophrenia 5 38
317 DSS010 Dissociative Disorder 38
318 CNN001 Cannabis Dependence 38
319 NNT008 Neonatal Abstinence Syndrome 38
320 XGB001 Xia-Gibbs Syndrome 37
321 SPR012 Separation Anxiety Disorder 37
322 c ALZ062 Alzheimer Disease 19 37
323 ANT019 Anterograde Amnesia 37
324 INT025 Intermittent Explosive Disorder 36
325 RMN001 Rumination Disorder 36
326 KLP001 Kleptomania 35
327 DVL001 Developmental Coordination Disorder 35
328 ECH002 Echolalia 35
329 DRG001 Drug Psychosis 34
330 P SPC019 Specific Language Impairment 34
331 PSY003 Psychosexual Disorder 33
332 DYS004 Dyscalculia 33
333 ART014 Articulation Disorder 33
334 c RCR002 Recurrent Hypersomnia 32
335 AGR018 Agraphia 32
336 ATY003 Atypical Autism 32
337 c SCH064 Schizophrenia 10 31
338 SBS005 Substance-Induced Psychosis 31
339 PDP001 Pedophilia 31
340 GTP001 Gait Apraxia 30
341 PYR003 Pyromania 30
342 SPC003 Specific Developmental Disorder 30
343 STR015 Stereotypic Movement Disorder 30
344 DPN001 Dependent Personality Disorder 30
345 c SCH052 Schizophrenia 14 30
346 c MLT010 Multiple Personality Disorder 30
347 DSS002 Dissociative Amnesia 30
348 IDM001 Ideomotor Apraxia 29
349 NRC003 Narcissistic Personality Disorder 29
350 HST001 Histrionic Personality Disorder 29
351 MNC002 Munchausen by Proxy 29
352 P NNS031 Non-Syndromic Intellectual Disability 28
353 BRB003 Barbiturate Abuse 28
354 FCT008 Factitious Disorder 28
355 SCH004 Schizoid Personality Disorder 28
356 PRP015 Paraphilia Disorder 28
357 ALC003 Alcoholic Psychosis 27
358 DSS025 Dissociative Seizures 26
359 AMS001 Amusia 25
360 c CFF006 Coffin-Siris Syndrome 5 25
361 EXH001 Exhibitionism 25
362 CPG001 Capgras Syndrome 25
363 FTS001 Fetishism 24
364 PHN001 Phencyclidine Abuse 24
365 BRB002 Barbiturate Dependence 24
366 HLL005 Hallucinogen Dependence 24
367 TRN006 Transvestism 23
368 EXP001 Expressive Language Disorder 23
369 MXD044 Mixed Sleep Apnea 23
370 ADS003 Aids Phobia 23
371 WRT002 Writing Disorder 23
372 ADT001 Auditory Agnosia 23
373 NSP004 Nosophobia 23
374 ANM002 Animal Phobia 23
375 SXL002 Sexual Masochism 22
376 c SCH061 Schizophrenia 16 21
377 SXL001 Sexual Sadism 21
378 INT031 Integrative Agnosia 21
379 ASS001 Associative Agnosia 21
380 ATT001 Autotopagnosia 21
381 VYR001 Voyeurism 20
382 VRB001 Verbal Auditory Agnosia 20
383 APP006 Apperceptive Agnosia 20
384 FLY001 Flying Phobia 19
385 CLT002 Cluttering 19
386 AST004 Astereognosia 19
387 c SYN082 Syndromic X-Linked Intellectual Disability 14 19
388 c ATS372 Autism 7 19
389 FNG001 Finger Agnosia 18
390 c PNC122 Panic Disorder 1 18
391 c TRN005 Transient Tic Disorder 17
392 BST003 Bestiality 17
393 c CHR344 Chronic Orthostatic Intolerance 17
394 c NRC011 Narcolepsy 3 17
395 c ASP031 Asperger Syndrome 2 17
396 MXD002 Mixed Receptive-Expressive Language Disorder 16
397 AKN001 Akinetopsia 15
398 TPG001 Topographical Agnosia 14
399 PHN002 Phonagnosia 14
400 c NRC012 Narcolepsy 4 14
401 c PNC068 Panic Disorder 3 13
402 MRR002 Mirror Agnosia 13
403 c ASP033 Asperger Syndrome 3 13
404 c PNC070 Panic Disorder 2 13
405 c ASP034 Asperger Syndrome 4 13
406 c DYS122 Dyslexia 3 12
407 HLL002 Hallucinogen Abuse 12
408 c DYS124 Dyslexia 6 12
409 CLR009 Color Agnosia 12
410 c ATT022 Attention Deficit-Hyperactivity Disorder 4 11
411 c ATT021 Attention Deficit-Hyperactivity Disorder 3 11
412 c TSB001 T-Substance Anomaly 10
413 c DYS126 Dyslexia 9 10
414 PSY001 Psychologic Vaginismus 8
415 EGD001 Ego-Dystonic Sexual Orientation 7
416 PSY002 Psychologic Dyspareunia 6
417 SCL006 Social Emotional Agnosia 5
418 TMG001 Time Agnosia 5
419 SMN003 Semantic Agnosia 4
420 ANT016 Antidepressant Type Abuse 4
421 MNT304 Mental Retardation, X-Linked, with or Without Seizures, Arx-Related 31
422 MNT303 Mental Retardation, X-Linked, Syndromic, Cabezas Type 41
423 MSS001 Masa Syndrome 62
424 P CRB185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 45
425 c HYP553 Hyperphosphatasia with Mental Retardation Syndrome 3 24
426 P ERL057 Early Infantile Epileptic Encephalopathy 62
427 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 52
428 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 50
429 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 49
430 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 49
431 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 47
432 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 45
433 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 45
434 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 44
435 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 41
436 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 39
437 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 39
438 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 39
439 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 39
440 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 37
441 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 36
442 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 36
443 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 35
444 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 35
445 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 35
446 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 32
447 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 32
448 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 30
449 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 29
450 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 29
451 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 29
452 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 28
453 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 28
454 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 28
455 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 28
456 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 27
457 c EPL240 Epileptic Encephalopathy, Early Infantile, 75 27
458 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 27
459 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 27
460 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 27
461 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 27
462 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 27
463 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 26
464 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 26
465 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 26
466 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 26
467 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 26
468 c EPL233 Epileptic Encephalopathy, Early Infantile, 69 26
469 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 26
470 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 26
471 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 26
472 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 26
473 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 26
474 c EPL234 Epileptic Encephalopathy, Early Infantile, 70 26
475 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 25
476 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 25
477 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 25
478 c EPL232 Epileptic Encephalopathy, Early Infantile, 68 25
479 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 25
480 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 25
481 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 25
482 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 25
483 c EPL241 Epileptic Encephalopathy, Early Infantile, 76 24
484 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 24
485 c EPL246 Epileptic Encephalopathy, Early Infantile, 80 24
486 c EPL235 Epileptic Encephalopathy, Early Infantile, 71 24
487 c EPL238 Epileptic Encephalopathy, Early Infantile, 73 24
488 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 24
489 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 24
490 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 23
491 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 23
492 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 23
493 c EPL243 Epileptic Encephalopathy, Early Infantile, 77 23
494 c EPL239 Epileptic Encephalopathy, Early Infantile, 74 23
495 c EPL237 Epileptic Encephalopathy, Early Infantile, 72 23
496 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 23
497 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 22
498 c EPL244 Epileptic Encephalopathy, Early Infantile, 78 22
499 c EPL245 Epileptic Encephalopathy, Early Infantile, 79 21
500 c EPL248 Epileptic Encephalopathy, Early Infantile, 81 20
501 c EPL250 Epileptic Encephalopathy, Early Infantile, 83 19
502 c EPL249 Epileptic Encephalopathy, Early Infantile, 82 17
503 c ARX003 Arx-Related Epileptic Encephalopathy 6
504 CRP034 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 22
505 CRB151 Cerebral Creatine Deficiency Syndrome 1 48
506 P PLY180 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 56
507 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66
508 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 66
509 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 56
510 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 46
511 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 44
512 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 43
513 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 43
514 WCK001 Wieacker-Wolff Syndrome 42
515 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 41
516 MNT310 Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 40
517 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 39
518 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 37
519 WSM002 Waisman Syndrome 29
520 RYN006 Raynaud-Claes Syndrome 29
521 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 8
522 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 8
523 MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 28
524 RLN001 Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 23
525 P HYP441 Hyperphosphatasia with Mental Retardation Syndrome 1 41
526 P HRD021 Hereditary Sensory Neuropathy 47
527 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 47
528 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 47
529 GLL028 Gillespie Syndrome 40
530 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 39
531 CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 38
532 c NRP039 Neuropathy, Hereditary Sensory, Type Id 35
533 c NRP036 Neuropathy, Hereditary Sensory, Type if 27
534 c SPT021 Sptlc1-Related Hereditary Sensory Neuropathy 16
535 EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 64
536 MNT302 Mental Retardation, X-Linked, Syndromic, Christianson Type 34
537 c CRB195 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 23
538 OHD004 Ohdo Syndrome 44
539 LJN003 Lujan-Fryns Syndrome 34
540 BSL048 Basilicata-Akhtar Syndrome 15
541 P CTS001 Cutis Laxa 62
542 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 54
543 c CTS045 Cutis Laxa, Autosomal Dominant 1 51
544 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 48
545 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 44
546 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 44
547 c ATS393 Autosomal Recessive Cutis Laxa Type I 43
548 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 43
549 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 42
550 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 42
551 c CTS041 Cutis Laxa, Autosomal Dominant 3 38
552 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 37
553 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 36
554 c CTS031 Cutis Laxa, Autosomal Dominant 2 30
555 c ACQ027 Acquired Cutis Laxa 26
556 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 26
557 c ATS451 Autosomal Recessive Cutis Laxa Type 2 24
558 c LTB003 Ltbp4-Related Cutis Laxa 24
559 c EFM001 Efemp2-Related Cutis Laxa 23
560 MNT254 Mental Retardation Syndrome, Mietens-Weber Type 22
561 c ATP003 Atp6v0a2-Related Cutis Laxa 20
562 c FBL003 Fbln5-Related Cutis Laxa 19
563 BRK002 Birk-Barel Syndrome 39
564 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 28
565 c CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 26
566 P ATS366 Autism X-Linked 2 42
567 MNT320 Mental Retardation, Autosomal Dominant 6, with or Without Seizures 30
568 CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 28
569 P NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 28
570 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 25
571 c GLY106 Glycosylphosphatidylinositol Biosynthesis Defect 11 24
572 c NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 23
573 MNT057 Mental Retardation, X-Linked, Syndromic, Raymond Type 21
574 RTN207 Retinopathy, Pigmentary, and Mental Retardation 19
575 OPT054 Opitz-Kaveggia Syndrome 56
576 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 47
577 MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 38
578 KHR001 Kahrizi Syndrome 33
579 HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 32
580 NRD057 Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects 29
581 ALP094 Alpha Thalassemia-Intellectual Disability Syndrome Type 1 23
582 SCT004 Scott Bryant Graham Syndrome 16
583 INS024 Insulin-Like Growth Factor I 79
584 c CHR630 Chorea, Benign Hereditary 38
585 MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 29
586 c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 26
587 MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 25
588 MNT107 Mental Retardation, Fra12a Type 20
589 P CHR636 Chorea, Benign Familial 13
590 P HNT016 Huntington Disease 71
591 P PRN023 Prion Disease 57
592 c HNT010 Huntington Disease-Like 1 53
593 c SPN311 Spinocerebellar Ataxia 13 49
594 c HNT011 Huntington Disease-Like 3 38
595 TMP011 Temple-Baraitser Syndrome 37
596 RCH002 Richards-Rundle Syndrome 33
597 OHD003 Ohdo Syndrome, X-Linked 28
598 TNN015 Tonne-Kalscheuer Syndrome 28
599 RNL120 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation 27
600 c JVN015 Juvenile Huntington Disease 26
601 MNT283 Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly 20
602 c HNT013 Huntington Disease-Like Syndrome 20
603 c INH025 Inherited Prion Disease 18
604 PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 17
605 c HNT014 Huntington Disease-Like Syndrome Due to C9orf72 Expansions 15
606 ACR008 Acrocallosal Syndrome 68
607 PRR007 Perry Syndrome 54
608 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 52
609 P GLY112 Glycosylphosphatidylinositol Biosynthesis Defect 1 34
610 SPN438 Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy 34
611 MGL033 Megalocornea-Mental Retardation Syndrome 29
612 SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 28
613 c SPS092 Spastic Paraplegia 11 25
614 c GLY103 Glycosylphosphatidylinositol Biosynthesis Defect 15 25
615 MNT256 Mental Retardation, Buenos Aires Type 24
616 c GLY108 Glycosylphosphatidylinositol Biosynthesis Defect 18 24
617 c GLY107 Glycosylphosphatidylinositol Biosynthesis Defect 17 22
618 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 21
619 c GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 21
620 EPL170 Epilepsy-Aphasia Spectrum 20
621 RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 20
622 c GLY113 Glycosylphosphatidylinositol Biosynthesis Defect 21 19
623 PGN002 Paganini-Miozzo Syndrome 19
624 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 18
625 HLL013 Hall-Riggs Mental Retardation Syndrome 18
626 MNT030 Mental Retardation Syndrome, Belgian Type 18
627 HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 18
628 MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 17
629 PTR031 Pterygium Colli and Mental Retardation with Facial and Digital Anomalies 17
630 RDL026 Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome 16
631 DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 16
632 P MNT312 Mental Health Wellness 1 15
633 SPS218 Spastic Diplegia and Mental Retardation 15
634 ULN019 Ulna Hypoplasia-Intellectual Disability Syndrome 12
635 STB003 Setbp1 Disorder 12
636 AMY015 Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 11
637 ALX003 Alexander Disease 61
638 P MCR010 Microcephaly 58
639 c PRM031 Primary Autosomal Recessive Microcephaly 47
640 NCL006 Nicolaides-Baraitser Syndrome 46
641 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 46
642 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 42
643 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 41
644 c PRM212 Primary Microcephaly 41
645 c MCR320 Microcephaly 17, Primary, Autosomal Recessive 41
646 c MCR269 Microcephaly 15, Primary, Autosomal Recessive 40
647 c MCR238 Microcephaly 7, Primary, Autosomal Recessive 40
648 ART103 Arthrogryposis, Mental Retardation, and Seizures 40
649 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 37
650 c MCR329 Microcephaly, Autosomal Dominant 36
651 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 35
652 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 35
653 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 35
654 TMT003 Temtamy Syndrome 35
655 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 33
656 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 32
657 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 30
658 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 29
659 MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 29
660 EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 28
661 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 28
662 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 27
663 FGS004 Fg Syndrome 4 26
664 c MCR360 Microcephaly 20, Primary, Autosomal Recessive 24
665 c MCR356 Microcephaly 19, Primary, Autosomal Recessive 21
666 c MCR362 Microcephaly 22, Primary, Autosomal Recessive 21
667 c MCR372 Microcephaly 25, Primary, Autosomal Recessive 20
668 SKL011 Skeletal Defects, Genital Hypoplasia, and Mental Retardation 20
669 c MCR361 Microcephaly 21, Primary, Autosomal Recessive 20
670 c MCR368 Microcephaly 24, Primary, Autosomal Recessive 19
671 c MCR363 Microcephaly 23, Primary, Autosomal Recessive 18
672 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 62
673 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 61
674 c SPN301 Spinocerebellar Ataxia 2 59
675 P NRM002 Normal Pressure Hydrocephalus 56
676 MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 52
677 DND001 Dandy-Walker Syndrome 49
678 JWD001 Jawad Syndrome 40
679 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 33
680 MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 25
681 INT342 Intellectual Developmental Disorder, X-Linked 108 20
682 CRB158 Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 20
683 c HYD071 Hydrocephalus, Normal-Pressure, 1 20
684 MCR370 Macrocephaly, Acquired, with Impaired Intellectual Development 19
685 c INT348 Intellectual Developmental Disorder, Autosomal Recessive 71 19
686 c INT345 Intellectual Developmental Disorder, Autosomal Recessive 70 19
687 c INC035 Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 3 18
688 c INT344 Intellectual Developmental Disorder, Autosomal Recessive 69 18
689 c INT349 Intellectual Developmental Disorder 59 16
690 MNT028 Mental Retardation Smith Fineman Myers Type 16
691 XLN132 X-Linked Intellectual Disability, Schimke Type 13
692 MLP003 Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type 10
693 ALD006 Aldred Syndrome 7
694 P MTC003 Metachromatic Leukodystrophy 70
695 c CNG411 Congenital Disorder of Glycosylation, Type in 68
696 c HRD010 Hereditary Spastic Paraplegia 66
697 P NRN021 Neuronal Ceroid Lipofuscinosis 63
698 P SPN309 Spinocerebellar Ataxia 6 59
699 LKN001 Leukoencephalopathy with Vanishing White Matter 59
700 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 57
701 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 56
702 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 56
703 c CNG415 Congenital Disorder of Glycosylation, Type Ia 55
704 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 55
705 c CNG412 Congenital Disorder of Glycosylation, Type Ii 54
706 c SPN291 Spinocerebellar Ataxia 7 53
707 c SPN294 Spinocerebellar Ataxia 1 52
708 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 52
709 P GNT009 Giant Axonal Neuropathy 51
710 c CNG191 Congenital Disorder of Glycosylation, Type Iia 50
711 c SPN296 Spinocerebellar Ataxia 17 50
712 WRN002 Wernicke-Korsakoff Syndrome 49
713 c GNT049 Giant Axonal Neuropathy 1, Autosomal Recessive 48
714 c SPN101 Spinocerebellar Ataxia 29 48
715 c BRD015 Bardet-Biedl Syndrome 3 47
716 c CNG206 Congenital Disorder of Glycosylation, Type Ie 47
717 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 47
718 c SPN106 Spinocerebellar Ataxia 5 47
719 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 47
720 c CNG209 Congenital Disorder of Glycosylation, Type Iif 46
721 c CNG389 Congenital Disorder of Glycosylation, Type Iim 46
722 c TYR013 Tyrosinemia, Type Ii 46
723 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 46
724 c CNG190 Congenital Disorder of Glycosylation, Type Iib 46
725 AYM001 Ayme-Gripp Syndrome 46
726 c SPN100 Spinocerebellar Ataxia 27 46
727 c SPN293 Spinocerebellar Ataxia 12 45
728 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 45
729 c SPN312 Spinocerebellar Ataxia 14 45
730 c CNG203 Congenital Disorder of Glycosylation, Type Iii 45
731 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 45
732 c CNG383 Congenital Disorder of Glycosylation, Type Iik 44
733 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 44
734 c CNG201 Congenital Disorder of Glycosylation, Type Iij 44
735 c CRD239 Ceroid Lipofuscinosis, Neuronal, 13 44
736 c CNG204 Congenital Disorder of Glycosylation, Type Iih 44
737 c SPN308 Spinocerebellar Ataxia 28 43
738 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 43
739 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 43
740 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 43
741 c SPN305 Spinocerebellar Ataxia 11 43
742 c CNG414 Congenital Disorder of Glycosylation, Type Iil 43
743 c CNG189 Congenital Disorder of Glycosylation, Type Ib 43
744 c CNG498 Congenital Disorder of Glycosylation, Type Iin 43
745 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 42
746 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 42
747 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 42
748 c CNG185 Congenital Disorder of Glycosylation, Type Iig 42
749 CHR662 Chromosome 15q13.3 Deletion Syndrome 42
750 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 42
751 c SPN314 Spinocerebellar Ataxia 10 42
752 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 42
753 OLV002 Oliver Syndrome 42
754 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 42
755 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 42
756 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 41
757 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 41
758 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 41
759 c CNG197 Congenital Disorder of Glycosylation, Type Ih 41
760 c SPN284 Spinocerebellar Ataxia 38 41
761 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 41
762 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 41
763 c SPN290 Spinocerebellar Ataxia 15 41
764 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 41
765 c SPN304 Spinocerebellar Ataxia 8 41
766 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
767 MST006 Mast Syndrome 41
768 c CNG497 Congenital Disorder of Glycosylation, Type Iio 40
769 c SPN096 Spinocerebellar Ataxia 21 40
770 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 40
771 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40
772 c SPN265 Spinocerebellar Ataxia 36 40
773 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 40
774 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 40
775 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 40
776 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 40
777 c CNG504 Congenital Disorder of Glycosylation, Type Iip 39
778 c SPN099 Spinocerebellar Ataxia 26 39
779 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 39
780 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 39
781 c SPN283 Spinocerebellar Ataxia 37 39
782 c CNG194 Congenital Disorder of Glycosylation, Type Ig 39
783 SMT020 Smith-Kingsmore Syndrome 39
784 c SPN104 Spinocerebellar Ataxia 34 39
785 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 39
786 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 38
787 c SPN103 Spinocerebellar Ataxia 31 38
788 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 38
789 c CNG379 Congenital Disorder of Glycosylation, Type It 38
790 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 37
791 c SPN097 Spinocerebellar Ataxia 23 37
792 c SPN266 Spinocerebellar Ataxia 35 37
793 c CNG195 Congenital Disorder of Glycosylation, Type Id 37
794 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 36
795 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 36
796 c CNG196 Congenital Disorder of Glycosylation, Type Ic 35
797 c CNG199 Congenital Disorder of Glycosylation, Type Im 35
798 c CNG205 Congenital Disorder of Glycosylation, Type Ij 35
799 c CNG200 Congenital Disorder of Glycosylation, Type Iq 35
800 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 35
801 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 35
802 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 35
803 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 35
804 c CNG192 Congenital Disorder of Glycosylation, Type Ik 35
805 c CNG386 Congenital Disorder of Glycosylation, Type Iu 35
806 c SPN095 Spinocerebellar Ataxia 19 35
807 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 35
808 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 34
809 c CNG193 Congenital Disorder of Glycosylation, Type Ip 34
810 c SPN299 Spinocerebellar Ataxia 20 34
811 c SPS021 Spastic Paraplegia 10 33
812 c CNG198 Congenital Disorder of Glycosylation, Type Il 33
813 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 33
814 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 33
815 c SPN094 Spinocerebellar Ataxia 18 33
816 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 32
817 c SPN383 Spinocerebellar Ataxia 42 32
818 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 32
819 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 32
820 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 32
821 c CNG403 Congenital Disorder of Glycosylation, Type Ix 32
822 c SPS013 Spastic Paraplegia 8 32
823 c SPN105 Spinocerebellar Ataxia 4 31
824 c CNG188 Congenital Disorder of Glycosylation, Type if 31
825 c SPS036 Spastic Paraplegia 3 31
826 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 31
827 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 30
828 c SPN247 Spinocerebellar Ataxia Type 19/22 30
829 c CNG416 Congenital Disorder of Glycosylation, Type Iy 30
830 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 30
831 c SPN098 Spinocerebellar Ataxia 25 30
832 c SPN286 Spinocerebellar Ataxia 40 30
833 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 30
834 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
835 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 30
836 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 30
837 c SPS025 Spastic Paraplegia 15 30
838 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 30
839 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 29
840 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 29
841 c SPS091 Spastic Paraplegia 4 29
842 c CNG388 Congenital Disorder of Glycosylation, Type Iw 29
843 NSY001 N Syndrome 29
844 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 29
845 c CNG378 Congenital Disorder of Glycosylation, Type Ir 29
846 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 29
847 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 28
848 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
849 c SPS039 Spastic Paraplegia 5a 28
850 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 28
851 c MTC074 Metachromatic Leukodystrophy, Adult Form 28
852 PLL004 Pallister W Syndrome 28
853 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 28
854 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 28
855 c SPN427 Spinocerebellar Ataxia 48 27
856 CHR506 Choroideremia, Deafness, and Mental Retardation 27
857 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
858 c SPN102 Spinocerebellar Ataxia 30 27
859 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
860 ALP085 Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 27
861 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 27
862 P SPS012 Spastic Paraplegia 3a 26
863 c SPN418 Spinocerebellar Ataxia 44 26
864 c HRD186 Hereditary Spastic Paraplegia 51 26
865 RMN002 Ramon Syndrome 26
866 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 26
867 SPN368 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 26
868 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 26
869 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 26
870 c SPN420 Spinocerebellar Ataxia 46 26
871 c SPS041 Spastic Paraplegia 6 25
872 c SPN421 Spinocerebellar Ataxia 47 25
873 c SPS027 Spastic Paraplegia 17 25
874 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 25
875 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 25
876 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24
877 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 24
878 c GNT040 Giant Axonal Neuropathy 2, Autosomal Dominant 24
879 CRN267 Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation 24
880 c SPN372 Spinocerebellar Ataxia 43 24
881 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 24
882 c HRD188 Hereditary Spastic Paraplegia 72 24
883 MCD002 Mcdonough Syndrome 23
884 c SPN323 Spinocerebellar Ataxia 41 23
885 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
886 MD2001 Med23 22
887 c SPN419 Spinocerebellar Ataxia 45 22
888 c SPS042 Spastic Paraplegia 9 22
889 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 22
890 MTP004 Metaphyseal Acroscyphodysplasia 22
891 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 22
892 HNT017 Hunter-Mcalpine Craniosynostosis Syndrome 21
893 c HRD210 Hereditary Spastic Paraplegia 23 21
894 c SPS038 Spastic Paraplegia 39 21
895 XLN162 X-Linked Intellectual Disability, Najm Type 21
896 c SPS023 Spastic Paraplegia 13 20
897 MCR305 Microcephaly with Cervical Spine Fusion Anomalies 20
898 c SPN259 Spinocerebellar Ataxia 32 20
899 INT343 Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects 20
900 RSS027 Russell-Silver Syndrome, X-Linked 19
901 c SPS022 Spastic Paraplegia 12 19
902 PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 19
903 c SPS028 Spastic Paraplegia 18 19
904 c SPS034 Spastic Paraplegia 26 18
905 c SPN107 Spinocerebellar Ataxia 9 18
906 MRF017 Marfanoid Mental Retardation Syndrome, Autosomal 17
907 KZL006 Kozlowski-Krajewska Syndrome 17
908 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 17
909 VND003 Van Den Bosch Syndrome 17
910 HYP688 Hypospadias-Mental Retardation Syndrome 17
911 LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 17
912 MNT255 Mental Retardation and Psoriasis 17
913 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 17
914 c SPS032 Spastic Paraplegia 24 17
915 OHD002 Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant 16
916 c SYN073 Syngap1-Related Intellectual Disability 16
917 SPS194 Spastic Paresis, Glaucoma, and Mental Retardation 16
918 DXT003 Dextrocardia with Unusual Facies and Microphthalmia 16
919 ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 16
920 EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 16
921 SPS047 Spastic Paraplegia with Precocious Puberty 16
922 ART029 Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 16
923 MNT315 Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 16
924 DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 16
925 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 15
926 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 15
927 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 15
928 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 15
929 c SPS029 Spastic Paraplegia 19 15
930 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 15
931 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 15
932 c BCL018 Bcl11a-Related Intellectual Disability 15
933 c SPS035 Spastic Paraplegia 29 15
934 CTS046 Cutis Verticis Gyrata and Mental Retardation 15
935 c SPS024 Spastic Paraplegia 14 15
936 KFF001 Kifafa Seizure Disorder 14
937 SPS195 Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 14
938 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 14
939 c CSK002 Cask-Related Intellectual Disability 14
940 c INT364 Intellectual Developmental Disorder, Autosomal Recessive 72 14
941 SPS193 Spastic Paraplegia, Epilepsy, and Mental Retardation 14
942 c SPS161 Spastic Paraplegia 32 14
943 ECT104 Ectodermal Dysplasia with Mental Retardation and Syndactyly 14
944 CRM012 Cree Mental Retardation Syndrome 13
945 PLN009 Palant Cleft Palate Syndrome 13
946 c SPS033 Spastic Paraplegia 25 13
947 c SPS165 Spastic Paraplegia 47 13
948 MTR081 Motor Neuron Disease with Dementia and Ophthalmoplegia 13
949 DVR003 Devriendt Syndrome 13
950 MNT039 Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 13
951 c SPS026 Spastic Paraplegia 16 13
952 STR104 Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Facial Features 12
953 DWR021 Dwarfism, Mental Retardation, and Eye Abnormality 12
954 c SPS230 Spastic Paraplegia Type 49 12
955 CMR005 Camera-Marugo-Cohen Syndrome 12
956 SPN396 Spinal Muscular Atrophy with Mental Retardation 12
957 c GNT045 Giant Axonal Neuropathy 2 12
958 CTR179 Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy 11
959 TNK001 Tonoki Syndrome 11
960 c TRR002 Trio-Related Intellectual Disability 11
961 c WCR002 Wac-Related Intellectual Disability 11
962 c HVP001 Hivep2-Related Intellectual Disability 10
963 c WDR002 Wdr26-Related Intellectual Disability 10
964 P RRN017 Rare Intellectual Disability 10
965 c ALP081 Alopecia Intellectual Disability Syndrome 2 10
966 MNT299 Mental and Growth Retardation with Amblyopia 10
967 c ATS360 Autosomal Recessive Intellectual Disability 58 9
968 SPN397 Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 9
969 c SPS040 Spastic Paraplegia 5b 9
970 EPL197 Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation 8
971 IND013 Indolylacroyl Glycinuria with Mental Retardation 8
972 P DSR041 Disorder of Multiple Glycosylation 8
973 PSD115 Pseudouridinuria and Mental Defect 8
974 DSL004 Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 8
975 PFF002 Pfeiffer Kapferer Syndrome 8
976 NRD075 Neurodegenerative Disease with Dementia 8
977 KNR001 Koone Rizzo Elias Syndrome 8
978 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 7
979 PFF003 Pfeiffer Mayer Syndrome 7
980 c ATS403 Autosomal Dominant Intellectual Disability 40 7
981 c GRD008 Grid2-Related Spinocerebellar Ataxia 7
982 c ATS410 Autosomal Dominant Intellectual Disability 49 7
983 ZRR001 Zerres Rietschel Majewski Syndrome 7
984 DKR001 Duker Weiss Siber Syndrome 6
985 MCR072 Microdontia Hypodontia Short Stature 6
986 c PPP001 Ppp2r5d-Related Intellectual Disability 6
987 HRD065 Hordnes Engebretsen Knudtson Syndrome 5
988 ICH006 Ichthyosis Alopecia Eclabion Ectropion Mental Retardation 5
989 KSZ002 Kosztolanyi Syndrome 5
990 c ATS348 Autosomal Dominant Intellectual Disability 30 5
991 c SN3001 Sin3a-Related Intellectual Disability Syndrome 5
992 SPN344 Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 5
993 MCR344 Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 5
994 SHL003 Shoulder Girdle Defect Mental Retardation Familial 5
995 EMP013 Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation 5
996 INT089 Intellectual Deficit - Short Stature - Hypertelorism 5
997 KTS001 Katsantoni Papadakou Lagoyanni Syndrome 5
998 PTR009 Pterygium Colli Mental Retardation Digital Anomalies 5
999 MCR342 Microcephaly, Macrotia, and Mental Retardation 4
1000 c ACS002 Acsl4-Related Intellectual Disability 4
1001 c ARX002 Arx-Related Intellectual Disability 4
1002 c DDX001 Ddx3x-Related Intellectual Disability 4
1003 PRG135 Progressive Dementia with Neuroserpin Inclusion Bodies 4
1004 GRX001 Grix Blankenship Peterson Syndrome 3
1005 RRC034 Rare Cerebrovascular Dementia 3
1006 MTB017 Metabolic Disease with Dementia 3
1007 CNT055 Cantu Sanchez-Corona Hernandez Syndrome 3
1008 CNG099 Congenital Heart Disease Radio Ulnar Synostosis Mental Retardation 3
1009 OBS133 Obsolete: Atrichia-Mental and Growth Delay Syndrome 3
1010 GNT110 Genetic Neurodegenerative Disease with Dementia 3
1011 CRN064 Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation 2
1012 EPL007 Epilepsy Mental Deterioration Finnish Type 2
1013 ALC007 Alcohol Dependence 66
1014 P ATS364 Autism 65
1015 DMN031 Dementia, Lewy Body 65
1016 APN008 Apnea, Obstructive Sleep 65
1017 TBC004 Tobacco Addiction 64
1018 FCS002 Fucosidosis 63
1019 ANR007 Anorexia Nervosa 63
1020 MDD011 Mood Disorder 62
1021 P ALC033 Alcohol Use Disorder 58
1022 PST028 Post-Traumatic Stress Disorder 58
1023 ARS001 Aarskog-Scott Syndrome 57
1024 BLM002 Bulimia Nervosa 57
1025 NRT001 Neurotic Disorder 53
1026 P NRC002 Narcolepsy 51
1027 APR001 Apraxia 51
1028 BRX001 Bruxism 50
1029 c ALZ049 Alzheimer Disease 2 49
1030 c ALZ054 Alzheimer Disease 4 49
1031 LRN003 Learning Disability 49
1032 PRN009 Paranoid Schizophrenia 49
1033 c BPL002 Bipolar I Disorder 49
1034 c HNT004 Huntington Disease-Like 2 49
1035 c SPL067 Split-Hand/foot Malformation 1 48
1036 DLS001 Delusional Disorder 48
1037 PTC002 Potocki-Lupski Syndrome 47
1038 HYP016 Hypochondriasis 45
1039 CNV002 Conversion Disorder 45
1040 CHL012 Childhood Disintegrative Disease 44
1041 CRB148 Cerebral Creatine Deficiency Syndrome 3 43
1042 c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 43
1043 c ADV003 Advanced Sleep Phase Syndrome, Familial, 1 43
1044 c CRD225 Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant 42
1045 c SCK015 Seckel Syndrome 2 41
1046 c SPL024 Split-Hand/foot Malformation 3 41
1047 BSL009 Basal Ganglia Calcification 41
1048 P HYP263 Hypersomnia 41
1049 BDY001 Body Dysmorphic Disorder 39
1050 c AMY069 Amyotrophic Lateral Sclerosis 21 39
1051 P SPL061 Split Hand-Foot Malformation 38
1052 CMB002 Combat Disorder 38
1053 c SPL033 Split-Hand/foot Malformation 6 37
1054 c NRC010 Narcolepsy 2 37
1055 c SCH080 Schizophrenia 3 37
1056 PCD001 Pica Disease 37
1057 c SCK011 Seckel Syndrome 5 36
1058 ALC001 Alcohol-Related Birth Defect 35
1059 c MJR008 Major Affective Disorder 2 35
1060 DYS003 Dysgraphia 34
1061 c SPL070 Split-Hand/foot Malformation 2 33
1062 c SCH083 Schizophrenia 7 33
1063 c MJR003 Major Affective Disorder 6 33
1064 c MJR023 Major Affective Disorder 7 33
1065 VSL003 Visual Agnosia 31
1066 c ALZ061 Alzheimer Disease 15 31
1067 c SPL025 Split-Hand/foot Malformation 5 31
1068 ALC002 Alcohol-Related Neurodevelopmental Disorder 30
1069 c PTT030 Pitt-Hopkins-Like Syndrome 2 30
1070 PRN010 Paranoid Personality Disorder 30
1071 c RTT008 Rett Syndrome, Congenital Variant 29
1072 c SCH084 Schizophrenia 8 29
1073 c CNT068 Central Pain Syndrome 29
1074 ANS006 Anosognosia 29
1075 c ATS173 Autism 18 28
1076 VSC004 Vasculogenic Impotence 28
1077 c DYS121 Dyslexia 1 27
1078 CNC001 Cancerophobia 26
1079 c ALZ059 Alzheimer Disease 13 26
1080 CRT007 Cortical Deafness 26
1081 c CFF012 Coffin-Siris Syndrome 7 26
1082 c ATS268 Autism X-Linked 4 25
1083 c DYS120 Dyslexia 2 24
1084 ELC001 Elective Mutism 23
1085 PRT001 Partial Fetal Alcohol Syndrome 23
1086 c ADV006 Advanced Sleep Phase Syndrome, Familial, 3 23
1087 TCT002 Tactile Agnosia 23
1088 c ASP032 Asperger Syndrome 1 23
1089 c PRS058 Prosopagnosia, Hereditary 23
1090 c FRM002 Form Agnosia 21
1091 c ALZ060 Alzheimer Disease 14 21
1092 c ALZ014 Alzheimer Disease 16 20
1093 c SPC027 Specific Language Impairment 1 19
1094 c MJR014 Major Depressive Disorder 2 18
1095 c ATS177 Autism X-Linked 5 18
1096 c SPC023 Specific Language Impairment 5 18
1097 c ATS374 Autism 12 17
1098 c ATS375 Autism 13 16
1099 c MJR013 Major Depressive Disorder 1 16
1100 c DYS125 Dyslexia 8 16
1101 c ATT020 Attention Deficit-Hyperactivity Disorder 2 15
1102 c SPC028 Specific Language Impairment 2 14
1103 c SPC015 Specific Language Impairment 4 12
1104 c ATT019 Attention Deficit-Hyperactivity Disorder 1 11
1105 c SPC029 Specific Language Impairment 3 11
1106 c DYS123 Dyslexia 5 11
1107 c RRS011 Rare Sleep Disorder 11
1108 VSL001 Visual Verbal Agnosia 8
1109 GNR012 Generalized Gangliosidoses 5
1110 c RRD010 Rare Disease with Autism 4
1111 c RRS015 Rare Syndromic Intellectual Disability 4
1112 FTL063 Fetal Nicotine Spectrum Disorder 3
1113 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 66
1114 ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 42
1115 LKN025 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 63
1116 CHR696 Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia 32
1117 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 47
1118 P CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 56
1119 ENC039 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 50
1120 c XLN110 X-Linked Charcot-Marie-Tooth Disease 43
1121 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 43
1122 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 39
1123 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 35
1124 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 31
1125 c CHR697 Charcot-Marie-Tooth Disease X-Linked Recessive 4 21
1126 c AMY091 Amyotrophic Lateral Sclerosis 1 89
1127 CRT072 Creutzfeldt-Jakob Disease 69
1128 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 64
1129 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 59
1130 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 59
1131 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 48
1132 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 45
1133 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 44
1134 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 44
1135 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 40
1136 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 39
1137 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 38
1138 P MSC002 Muscular Dystrophy-Dystroglycanopathy 35
1139 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 32
1140 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 30
1141 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 30
1142 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 28
1143 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 28
1144 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 28
1145 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 27
1146 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 27
1147 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 25
1148 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 23
1149 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 22
1150 c CNG546 Congenital Muscular Dystrophy-Dystroglycanopathy Type a 17
1151 c CNG557 Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 16
1152 c CNG551 Congenital Muscular Dystrophy-Dystroglycanopathy A7 16
1153 c CNG553 Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 16
1154 c CNG558 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 15
1155 c CNG559 Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 14
1156 c CNG554 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 12
1157 c CNG552 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 10
1158 c CNG555 Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 9
1159 c CNG547 Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 9
1160 c CNG548 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 9
1161 c CNG549 Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 9
1162 c CNG550 Congenital Muscular Dystrophy-Dystroglycanopathy A14 9
1163 c CNG556 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 9
1164 OPT062 Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures 26
1165 CRN268 Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis 25
1166 BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 24
1167 LBN005 Lubani-Al Saleh-Teebi Syndrome 6
1168 c WRB002 Warburg Micro Syndrome 1 50
1169 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 49
1170 BHR001 Behr Syndrome 49
1171 MRS004 Marshall-Smith Syndrome 48
1172 c WRB003 Warburg Micro Syndrome 2 41
1173 P WRB001 Warburg Micro Syndrome 40
1174 P MPL001 Maple Syrup Urine Disease 69
1175 P TRC102 Trichothiodystrophy 1, Photosensitive 65
1176 FTL002 Fatal Familial Insomnia 50
1177 c CRD226 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive 46
1178 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 43
1179 GRD009 Gordon Holmes Syndrome 40
1180 P DFN036 Deafness, X-Linked 2 39
1181 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 31
1182 c TRC100 Trichothiodystrophy 3, Photosensitive 29
1183 MMS001 Momo Syndrome 28
1184 c XLN004 X-Linked Nonsyndromic Deafness 26
1185 c DFN194 Deafness, X-Linked 1 24
1186 c INT262 Intermediate Maple Syrup Urine Disease 24
1187 c DFN147 Deafness, X-Linked 4 23
1188 c TRC099 Trichothiodystrophy 2, Photosensitive 22
1189 c DFN276 Deafness, X-Linked 6 21
1190 c DFN370 Deafness, X-Linked 7 20
1191 c DFN146 Deafness, X-Linked 3 18
1192 ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 17
1193 c DFN186 Deafness, Y-Linked 1 16
1194 c DFN372 Deafness, Y-Linked 2 15
1195 MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 6
1196 c MNN047 Mannosidosis, Alpha B, Lysosomal 64
1197 c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 63
1198 HPT019 Hepatic Encephalopathy 60
1199 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 60
1200 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 53
1201 c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 51
1202 P MNN019 Mannosidosis, Beta a, Lysosomal 51
1203 DBW001 Dubowitz Syndrome 48
1204 c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 47
1205 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 42
1206 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 41
1207 CRP033 Corpus Callosum, Agenesis of, with Abnormal Genitalia 39
1208 BLB005 Beaulieu-Boycott-Innes Syndrome 36
1209 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 36
1210 ADL060 Adult Polyglucosan Body Disease 35
1211 WYB002 Wyburn-Mason Syndrome 30
1212 CLR029 Clark-Baraitser Syndrome 22
1213 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 22
1214 GRR002 Gurrieri Syndrome 21
1215 MCR066 Microcephaly-Cardiomyopathy 21
1216 NRP046 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers 20
1217 KNN010 Kennerknecht Syndrome 20
1218 OCL043 Oculorenocerebellar Syndrome 20
1219 CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 19
1220 MCR306 Microcephaly-Deafness Syndrome 19
1221 OST047 Osteopenia and Sparse Hair 19
1222 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 18
1223 c OST149 Osteolysis Syndrome, Recessive 18
1224 MYT024 Myotonia with Skeletal Abnormalities and Mental Retardation 18
1225 MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 17
1226 WLM019 Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 17
1227 FKY002 Fukuyama Type Muscular Dystrophy 16
1228 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 16
1229 CDL001 Caudal Appendage Deafness 15
1230 EHL082 Ehlers-Danlos Syndrome, Beasley-Cohen Type 13
1231 RMS002 Ramos Arroyo Clark Syndrome 10
1232 BDH001 Boudhina Yedes Khiari Syndrome 8
1233 P PRM337 Primary Osteolysis 8
1234 ART113 Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability 8
1235 XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 7
1236 RNL121 Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 5
1237 KZN001 Kuzniecky Andermann Syndrome 5
1238 ANX010 Anxiety 72
1239 P SLP006 Sleep Apnea 69
1240 P MJR001 Major Depressive Disorder 68
1241 PSY004 Psychotic Disorder 67
1242 GLL008 Gilles De La Tourette Syndrome 66
1243 P PRS038 Personality Disorder 65
1244 P ATT013 Attention Deficit-Hyperactivity Disorder 65
1245 c PNS012 Paine Syndrome 61
1246 P PTT014 Pitt-Hopkins Syndrome 60
1247 c ALZ056 Alzheimer Disease 3 58
1248 DSS008 Disease of Mental Health 57
1249 APH002 Aphasia 57
1250 MNT002 Mental Depression 57
1251 P BPL003 Bipolar Disorder 56
1252 FRN051 Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related 54
1253 P RST001 Restless Legs Syndrome 54
1254 P AGN002 Agnosia 54
1255 c LSS005 Lissencephaly 1 53
1256 TRM010 Traumatic Brain Injury 53
1257 P PNC025 Panic Disorder 53
1258 P NRD007 Neurodegeneration with Brain Iron Accumulation 52
1259 c LSS006 Lissencephaly 2 52
1260 STT041 Stuttering 52
1261 P LSS002 Lissencephaly 51
1262 SMT006 Somatoform Disorder 51
1263 SCH012 Schizoaffective Disorder 50
1264 TRC010 Trichotillomania 50
1265 c NRC009 Narcolepsy 1 49
1266 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 48
1267 c PTT029 Pitt-Hopkins-Like Syndrome 1 48
1268 c PNT049 Pontocerebellar Hypoplasia, Type 2d 48
1269 c CNT015 Central Sleep Apnea 46
1270 NRN008 Neuronal Intranuclear Inclusion Disease 45
1271 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 45
1272 P LSS036 Lissencephaly, X-Linked, 1 44
1273 c ERL020 Early-Onset Schizophrenia 44
1274 NNS032 Non-Syndromic X-Linked Intellectual Disability 44
1275 P MJR007 Major Affective Disorder 1 43
1276 GLT018 Glut1 Deficiency Syndrome 1 42
1277 VNC001 Von Economo's Disease 42
1278 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 41
1279 CHR594 Chromosome 3q29 Deletion Syndrome 41
1280 c MJR024 Major Affective Disorder 9 41
1281 c BRD021 Bardet-Biedl Syndrome 9 40
1282 c ALZ015 Alzheimer Disease 6 40
1283 FRN013 Frontotemporal Dementia, Chromosome 3-Linked 39
1284 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 38
1285 DPR002 Depersonalization Disorder 38
1286 c MJR022 Major Affective Disorder 8 38
1287 c PRK085 Parkinson Disease 1, Autosomal Dominant 37
1288 c MNT143 Mental Retardation, Autosomal Dominant 13 36
1289 c PTT042 Pitt-Hopkins-Like Syndrome 36
1290 P PRS013 Prosopagnosia 36
1291 c LSS037 Lissencephaly, X-Linked, 2 36
1292 c NGH029 Night Blindness, Congenital Stationary, Type 1e 35
1293 SYN089 Syndromic X-Linked Intellectual Disability Snyder Type 34
1294 c SCH056 Schizophrenia 15 34
1295 c RST012 Restless Legs Syndrome 1 34
1296 c SCH087 Schizophrenia 18 34
1297 c LSS010 Lissencephaly 4 33
1298 MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 33
1299 c MJR006 Major Affective Disorder 5 33
1300 c MNT198 Mental Retardation, X-Linked 98 31
1301 c SCH053 Schizophrenia 13 30
1302 WTS001 Watson Syndrome 30
1303 c ALZ031 Alzheimer Disease 17 30
1304 c ALC016 Alcohol Sensitivity, Acute 29
1305 SML010 Simultanagnosia 29
1306 c MJR004 Major Affective Disorder 4 28
1307 c LSS009 Lissencephaly 3 28
1308 c ATS367 Autism X-Linked 3 28
1309 c MNT295 Mental Retardation, X-Linked, Syndromic 33 27
1310 NRD028 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 27
1311 MLS013 Miles-Carpenter Syndrome 27
1312 c LSS025 Lissencephaly 5 26
1313 DRG004 Drug-Induced Mental Disorder 26
1314 c ATS371 Autism 6 26
1315 c ATS370 Autism 3 26
1316 CMB083 Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia 25
1317 c RST020 Restless Legs Syndrome 6 25
1318 P SYN064 Syndromic X-Linked Intellectual Disability 25
1319 SYN090 Syndromic X-Linked Intellectual Disability Turner Type 25
1320 c ATS358 Autism X-Linked 6 24
1321 c LSS035 Lissencephaly 8 24
1322 c ATS376 Autism 15 24
1323 c ATS365 Autism X-Linked 1 24
1324 SYN079 Syndromic X-Linked Intellectual Disability Siderius Type 23
1325 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 23
1326 MGC007 Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations 23
1327 c SCH086 Schizophrenia 11 22
1328 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 21
1329 c ATS377 Autism 16 20
1330 NRD025 Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations 20
1331 DVL019 Developmental Delay and Seizures with or Without Movement Abnormalities 19
1332 MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 18
1333 c ATS171 Autism 9 18
1334 c ATS172 Autism 10 17
1335 c RST016 Restless Legs Syndrome 7 15
1336 ALC013 Alcohol-Induced Mental Disorder 14
1337 c MJR021 Major Affective Disorder 3 14
1338 ORG003 Organic Mood Syndrome 14
1339 c NRC018 Narcolepsy 6 14
1340 c RST013 Restless Legs Syndrome 2 13
1341 c RST014 Restless Legs Syndrome 3 13
1342 c ATS422 Autosomal Dominant Non-Syndromic Intellectual Disability 27 13
1343 c RST015 Restless Legs Syndrome 4 12
1344 c RST021 Restless Legs Syndrome 5 12
1345 c RST019 Restless Legs Syndrome 8 11
1346 SYN081 Syndromic X-Linked Intellectual Disability Abidi Type 9
1347 SYN083 Syndromic X-Linked Intellectual Disability Shashi Type 9
1348 SYN093 Syndromic X-Linked Intellectual Disability Raymond Type 7
1349 c BPL001 Bipolar Ll Disorder 5
1350 MTH021 Methylmalonic Acidemia with Homocystinuria 46
1351 ATX037 Ataxia-Deafness-Retardation Syndrome 24
1352 P ALZ034 Alzheimer Disease 88
1353 P KBK002 Kabuki Syndrome 1 67
1354 P BRD002 Bardet-Biedl Syndrome 66
1355 GLC006 Galactosemia 65
1356 P CFF008 Coffin-Siris Syndrome 1 62
1357 c BRD010 Bardet-Biedl Syndrome 1 61
1358 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 61
1359 SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 58
1360 c BRD011 Bardet-Biedl Syndrome 10 54
1361 P CNG010 Congenital Stationary Night Blindness 54
1362 P BSL038 Basal Ganglia Calcification, Idiopathic, 1 52
1363 c NGH026 Night Blindness, Congenital Stationary, Type 1a 51
1364 c BRD012 Bardet-Biedl Syndrome 11 50
1365 P CHR345 Chronic Pain 50
1366 RNP003 Renpenning Syndrome 1 49
1367 c BRD018 Bardet-Biedl Syndrome 6 48
1368 c BRD020 Bardet-Biedl Syndrome 8 48
1369 MHM001 Mehmo Syndrome 47
1370 KRT013 Keratolytic Winter Erythema 46
1371 c CRT081 Cortical Dysplasia, Complex, with Other Brain Malformations 7 44
1372 c BRD047 Bardet-Biedl Syndrome 16 44
1373 c BRD013 Bardet-Biedl Syndrome 12 44
1374 c BRD033 Bardet-Biedl Syndrome 13 44
1375 CHR174 Christianson Syndrome 44
1376 FRG010 Fragile X Tremor/ataxia Syndrome 43
1377 MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 43
1378 c CFF010 Coffin-Siris Syndrome 3 42
1379 c BRD044 Bardet-Biedl Syndrome 17 42
1380 c CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 42
1381 c BRD048 Bardet-Biedl Syndrome 18 40
1382 c NGH010 Night Blindness, Congenital Stationary, Autosomal Dominant 2 40
1383 P ADV001 Advanced Sleep Phase Syndrome 40
1384 c ALZ050 Alzheimer Disease 5 39
1385 c BRD045 Bardet-Biedl Syndrome 19 38
1386 c BRD017 Bardet-Biedl Syndrome 5 37
1387 WHT019 White-Sutton Syndrome 37
1388 c BRD035 Bardet-Biedl Syndrome 15 37
1389 c ALZ012 Alzheimer Disease 12 37
1390 c NGH027 Night Blindness, Congenital Stationary, Type 1c 36
1391 c NGH024 Night Blindness, Congenital Stationary, Type 1h 35
1392 c NGH008 Night Blindness, Congenital Stationary, Autosomal Dominant 3 35
1393 c NGH025 Night Blindness, Congenital Stationary, Type 2a 35
1394 c ALZ063 Alzheimer's Disease 1 35
1395 c NGH007 Night Blindness, Congenital Stationary, Type 1b 33
1396 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 33
1397 c RBN008 Rubinstein-Taybi Syndrome 2 33
1398 c MNT157 Mental Retardation, Autosomal Dominant 18 33
1399 DGL002 D-Glyceric Aciduria 33
1400 c SCH075 Schizophrenia 19 32
1401 c NGH021 Night Blindness, Congenital Stationary, Autosomal Dominant 1 32
1402 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 32
1403 c SCH081 Schizophrenia 6 32
1404 c KBK003 Kabuki Syndrome 2 31
1405 c ALZ057 Alzheimer Disease 10 31
1406 P ENC054 Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations 30
1407 c MNT296 Mental Retardation, X-Linked, Syndromic 34 29
1408 c MNT301 Mental Retardation, X-Linked 21 29
1409 c BRD050 Bardet-Biedl Syndrome 21 28
1410 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 28
1411 c MNT270 Mental Retardation, Autosomal Recessive 53 28
1412 c SCH045 Schizophrenia 12 28
1413 c MNT262 Mental Retardation, Autosomal Dominant 42 28
1414 c CRT082 Cortical Dysplasia, Complex, with Other Brain Malformations 8 27
1415 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 27
1416 c ALZ016 Alzheimer Disease 8 26
1417 c ALZ045 Alzheimer Disease 9 26
1418 c BSL046 Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive 25
1419 c ATS389 Autosomal Dominant Non-Syndromic Intellectual Disability 8 25
1420 c BRD051 Bardet-Biedl Syndrome 20 25
1421 c ALZ053 Alzheimer Disease 7 25
1422 c CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 24
1423 c BSL035 Basal Ganglia Calcification, Idiopathic, 5 24
1424 c CRT073 Cortical Dysplasia, Complex, with Other Brain Malformations 5 24
1425 SYN092 Syndromic X-Linked Intellectual Disability Cabezas Type 24
1426 c BSL039 Basal Ganglia Calcification, Idiopathic, 6 24
1427 c MNT191 Mental Retardation, X-Linked, Syndromic 17 24
1428 c NGH030 Night Blindness, Congenital Stationary, Type 1f 24
1429 c NGH028 Night Blindness, Congenital Stationary, Type 1d 24
1430 c ATS168 Autosomal Dominant Congenital Stationary Night Blindness 24
1431 c MNT287 Mental Retardation, Autosomal Recessive 57 24
1432 c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 23
1433 c BSL032 Basal Ganglia Calcification, Idiopathic, 4 23
1434 c CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 23
1435 c CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 23
1436 c ATS369 Autism 8 22
1437 c CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 22
1438 c ATS378 Autism 17 22
1439 c CRT087 Cortical Dysplasia, Complex, with Other Brain Malformations 9 22
1440 c ALZ032 Alzheimer Disease 18 21
1441 c ATS388 Autosomal Dominant Non-Syndromic Intellectual Disability 6 21
1442 c NGH022 Night Blindness, Congenital Stationary, Type 1g 21
1443 c NRC017 Narcolepsy 7 20
1444 c ADV007 Advanced Sleep Phase Syndrome, Familial, 2 20
1445 c CHM002 Chmp2b-Related Frontotemporal Dementia 19
1446 c ALZ058 Alzheimer Disease 11 19
1447 c CRT089 Cortical Dysplasia, Complex, with Other Brain Malformations 10 19
1448 P CMP082 Complex Cortical Dysplasia with Other Brain Malformations 18
1449 c ATS170 Autism 19 18
1450 c MNT247 Mental Retardation, X-Linked 73 17
1451 c MNT204 Mental Retardation, X-Linked 23 17
1452 c MNT194 Mental Retardation, X-Linked 50 16
1453 c ATS373 Autism 11 16
1454 c MNT202 Mental Retardation, X-Linked 53 15
1455 c SYN077 Syndromic X-Linked Intellectual Disability 12 15
1456 c NRC013 Narcolepsy 5 14
1457 c MCP022 Mecp2-Related Severe Neonatal Encephalopathy 13
1458 c RRP002 Rare Pervasive Developmental Disorder 11
1459 c RRD051 Rare Dementia 9
1460 SYN091 Syndromic X-Linked Intellectual Disability Nascimento Type 7
1461 c INF189 Infectious Disease with Dementia 3
1462 SYN094 Syndromic X-Linked Mental Retardation Hough Type 3
1463 P RTT002 Rett Syndrome 80
1464 P SCH015 Schizophrenia 75
1465 BRN028 Brain Cancer 73
1466 P JBR020 Joubert Syndrome 1 72
1467 P FRN006 Frontotemporal Dementia 69
1468 OBS002 Obsessive-Compulsive Disorder 68
1469 PCK003 Pick Disease of Brain 68
1470 c ATS007 Autism Spectrum Disorder 67
1471 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 58
1472 P FTL001 Fetal Alcohol Syndrome 55
1473 P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 53
1474 SBC001 Subacute Sclerosing Panencephalitis 52
1475 c JBR041 Joubert Syndrome 3 52
1476 c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 51
1477 c JBR018 Joubert Syndrome 4 49
1478 LBS001 Lubs X-Linked Mental Retardation Syndrome 49
1479 P SLL003 Salla Disease 48
1480 P ASP001 Asperger Syndrome 48
1481 c JBR004 Joubert Syndrome 2 47
1482 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 46
1483 c JBR012 Joubert Syndrome 5 46
1484 c JBR011 Joubert Syndrome 7 45
1485 c JBR015 Joubert Syndrome 6 45
1486 c JBR025 Joubert Syndrome 17 45
1487 c BRD016 Bardet-Biedl Syndrome 4 44
1488 c ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 44
1489 P CRB154 Cerebrocostomandibular Syndrome 44
1490 c JBR024 Joubert Syndrome 14 43
1491 ADN022 Adenylosuccinase Deficiency 43
1492 c JBR035 Joubert Syndrome 24 43
1493 c JBR016 Joubert Syndrome 10 43
1494 c CFF009 Coffin-Siris Syndrome 4 43
1495 c FTL006 Fetal Alcohol Spectrum Disorder 42
1496 c JBR013 Joubert Syndrome 8 42
1497 c JBR014 Joubert Syndrome 9 42
1498 HLS003 Helsmoortel-Van Der Aa Syndrome 42
1499 c JBR031 Joubert Syndrome 21 41
1500 P PRR025 Perrault Syndrome 41
1501 GLT019 Glut1 Deficiency Syndrome 2 41
1502 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 40
1503 c GRN014 Grn-Related Frontotemporal Dementia 40
1504 c WRB005 Warburg Micro Syndrome 4 40
1505 KFM001 Kaufman Oculocerebrofacial Syndrome 39
1506 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 39
1507 c SCK010 Seckel Syndrome 4 38
1508 c JBR022 Joubert Syndrome 20 38
1509 c JBR028 Joubert Syndrome 13 38
1510 c MCR255 Microcephaly 9, Primary, Autosomal Recessive 38
1511 c JBR026 Joubert Syndrome 15 37
1512 c ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 36
1513 c SCH051 Schizophrenia 4 36
1514 c JBR027 Joubert Syndrome 16 36
1515 c JBR037 Joubert Syndrome 26 36
1516 MTH026 Methemoglobinemia Due to Deficiency of Methemoglobin Reductase 36
1517 c JBR030 Joubert Syndrome 22 36
1518 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 36
1519 c JBR042 Joubert Syndrome 23 36
1520 AMN007 Aminoacylase 1 Deficiency 35
1521 IMM056 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 34
1522 c MNT273 Mental Retardation, Autosomal Dominant 44 34
1523 c SCH073 Schizophrenia 9 33
1524 PRK087 Parkinson-Dementia Syndrome 33
1525 KLV001 Kluver-Bucy Syndrome 33
1526 c SCH085 Schizophrenia 2 33
1527 PRT055 Prieto X-Linked Mental Retardation Syndrome 31
1528 c ATS387 Autosomal Dominant Non-Syndromic Intellectual Disability 5 31
1529 c JBR045 Joubert Syndrome 33 30
1530 c PRR020 Perrault Syndrome 1 30
1531 SHH004 Shaheen Syndrome 30
1532 c SCK033 Seckel Syndrome 8 30
1533 HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 29
1534 c ATS390 Autosomal Dominant Non-Syndromic Intellectual Disability 9 28
1535 c PRK081 Parkinson Disease 19a, Juvenile-Onset 27
1536 c PRR021 Perrault Syndrome 4 26
1537 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 26
1538 c JBR039 Joubert Syndrome 28 26
1539 c JBR043 Joubert Syndrome 32 26
1540 c JBR021 Joubert Syndrome 18 25
1541 c JBR040 Joubert Syndrome 30 25
1542 c CFF014 Coffin-Siris Syndrome 9 25
1543 c ATS386 Autosomal Dominant Non-Syndromic Intellectual Disability 4 25
1544 c JBR036 Joubert Syndrome 25 25
1545 c PRR024 Perrault Syndrome 3 24
1546 c MCR331 Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii 24
1547 c JBR047 Joubert Syndrome 35 24
1548 c PRR022 Perrault Syndrome 2 24
1549 c JBR038 Joubert Syndrome 27 23
1550 c PRR026 Perrault Syndrome 5 23
1551 c JBR044 Joubert Syndrome 31 23
1552 c MNT218 Mental Retardation, X-Linked 99 23
1553 c CFF015 Coffin-Siris Syndrome 10 22
1554 c MNT181 Mental Retardation, Autosomal Recessive 35 21
1555 ARM006 Armfield X-Linked Mental Retardation Syndrome 21
1556 c MNT223 Mental Retardation, X-Linked 100 20
1557 c MNT195 Mental Retardation, X-Linked 96 20
1558 c PRR033 Perrault Syndrome 6 19
1559 c MNT162 Mental Retardation, Autosomal Recessive 24 17
1560 c MNT205 Mental Retardation, X-Linked 42 13
1561 c INT094 Intermediate Severe Salla Disease 13
1562 c JBR048 Joubert Syndrome 36 11
1563 c CRB078 Cerebrocostomandibular-Like Syndrome 8
1564 SND001 Sandhoff Disease 68
1565 c TYR012 Tyrosinemia, Type I 67
1566 P SLP005 Sleep Disorder 59
1567 P TYR004 Tyrosinemia 58
1568 P SCK004 Seckel Syndrome 57
1569 CRB150 Cerebral Creatine Deficiency Syndrome 2 52
1570 P D2H002 D-2-Hydroxyglutaric Aciduria 1 52
1571 AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 52
1572 LRN001 Laurence-Moon Syndrome 51
1573 c L2H001 L-2-Hydroxyglutaric Aciduria 49
1574 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 49
1575 SCH074 Schuurs-Hoeijmakers Syndrome 48
1576 PTT059 Pettigrew Syndrome 48
1577 c SCK009 Seckel Syndrome 1 47
1578 DCR008 Dicarboxylic Aminoaciduria 44
1579 MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 43
1580 c CFF007 Coffin-Siris Syndrome 2 42
1581 c TYR011 Tyrosinemia, Type Iii 42
1582 c WRB004 Warburg Micro Syndrome 3 41
1583 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 41
1584 c ATS383 Autosomal Dominant Non-Syndromic Intellectual Disability 1 41
1585 CHR492 Chromosome 13q14 Deletion Syndrome 41
1586 KLN009 Kleine-Levin Hibernation Syndrome 40
1587 c 2HY001 2-Hydroxyglutaric Aciduria 40
1588 MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 40
1589 PRT052 Partington X-Linked Mental Retardation Syndrome 39
1590 LTH002 Lathosterolosis 39
1591 c SPL034 Split-Hand/foot Malformation 4 39
1592 P HYP111 Hyperprolinemia 39
1593 c MNT158 Mental Retardation, Autosomal Dominant 22 34
1594 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 34
1595 MCR025 Microhydranencephaly 33
1596 c HYP248 Hyperprolinemia, Type I 32
1597 P MNT248 Mental Retardation, X-Linked 102 32
1598 c HYP597 Hyperprolinemia, Type Ii 31
1599 c ATS384 Autosomal Dominant Non-Syndromic Intellectual Disability 2 31
1600 c ATS385 Autosomal Dominant Non-Syndromic Intellectual Disability 3 30
1601 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 30
1602 c ATS417 Autosomal Dominant Non-Syndromic Intellectual Disability 19 29
1603 c SCK032 Seckel Syndrome 6 29
1604 c MNT298 Mental Retardation, X-Linked, Syndromic, 35 28
1605 c SCK029 Seckel Syndrome 7 27
1606 c CFF011 Coffin-Siris Syndrome 6 27
1607 c MNT279 Mental Retardation, Autosomal Dominant 47 26
1608 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 25
1609 c CFF013 Coffin-Siris Syndrome 8 25
1610 c MNT337 Mental Retardation, Autosomal Dominant 58 25
1611 c D2H003 D-2-Hydroxyglutaric Aciduria 2 25
1612 c MNT267 Mental Retardation, X-Linked 104 25
1613 c MNT338 Mental Retardation, Autosomal Recessive 65 24
1614 c SCK037 Seckel Syndrome 9 24
1615 c MNT294 Mental Retardation, X-Linked 106 24
1616 c SCK038 Seckel Syndrome 10 23
1617 c MNT224 Mental Retardation, X-Linked 101 23
1618 c MNT186 Mental Retardation, Autosomal Dominant 10 22
1619 c MNT289 Mental Retardation, X-Linked 103 21
1620 c MNT275 Mental Retardation, Autosomal Recessive 60 21
1621 c MNT274 Mental Retardation, X-Linked 105 19
1622 c MNT264 Mental Retardation, Autosomal Recessive 52 19
1623 c PLY181 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 19
1624 c SYN056 Syndromic X-Linked Intellectual Disability 7 17
1625 c MNT167 Mental Retardation, Autosomal Recessive 16 17
1626 c MNT165 Mental Retardation, Autosomal Recessive 28 17
1627 c MNT182 Mental Retardation, Autosomal Recessive 19 17
1628 CRP036 Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome 16
1629 c MNT170 Mental Retardation, Autosomal Recessive 23 16
1630 c MNT160 Mental Retardation, Autosomal Recessive 31 15
1631 c SYN070 Syngap1-Related Non-Syndromic Intellectual Disability 10
1632 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 69
1633 ART002 Arts Syndrome 63
1634 P RHZ001 Rhizomelic Chondrodysplasia Punctata 54
1635 c PNT034 Pontocerebellar Hypoplasia, Type 2e 52
1636 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 52
1637 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 51
1638 ATH001 Athabaskan Brainstem Dysgenesis Syndrome 50
1639 c CNG208 Congenital Disorder of Glycosylation, Type Iic 48
1640 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 48
1641 P MNT135 Mental Retardation, X-Linked, Syndromic 13 48
1642 P PNT019 Pontocerebellar Hypoplasia 46
1643 MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 44
1644 c PNT036 Pontocerebellar Hypoplasia, Type 6 44
1645 c PNT030 Pontocerebellar Hypoplasia, Type 8 44
1646 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 43
1647 c PNT018 Pontocerebellar Hypoplasia, Type 1b 43
1648 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 42
1649 c BRD019 Bardet-Biedl Syndrome 7 42
1650 c PNT044 Pontocerebellar Hypoplasia, Type 2a 41
1651 c MNT242 Mental Retardation, Autosomal Dominant 40 41
1652 c PNT032 Pontocerebellar Hypoplasia, Type 9 41
1653 c PNT043 Pontocerebellar Hypoplasia, Type 4 40
1654 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 40
1655 c PNT045 Pontocerebellar Hypoplasia, Type 1a 40
1656 c PNT039 Pontocerebellar Hypoplasia, Type 7 40
1657 c PNT037 Pontocerebellar Hypoplasia, Type 3 39
1658 c PNT010 Pontocerebellar Hypoplasia Type 1 38
1659 P STR001 Striatonigral Degeneration 38
1660 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 36
1661 c STR085 Striatonigral Degeneration, Infantile 34
1662 c MNT211 Mental Retardation, Autosomal Dominant 23 30
1663 c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 30
1664 c MNT241 Mental Retardation, Autosomal Dominant 32 30
1665 c PNT046 Pontocerebellar Hypoplasia, Type 5 30
1666 c PNT033 Pontocerebellar Hypoplasia, Type 10 29
1667 c MNT305 Mental Retardation, X-Linked 12 29
1668 c MNT145 Mental Retardation, Autosomal Recessive 5 29
1669 c MNT210 Mental Retardation, Autosomal Recessive 42 29
1670 c PNT047 Pontocerebellar Hypoplasia, Type 2b 27
1671 c PNT051 Pontocerebellar Hypoplasia, Type 1d 27
1672 c PNT035 Pontocerebellar Hypoplasia, Type 1c 27
1673 c PNT050 Pontocerebellar Hypoplasia, Type 11 26
1674 c MNT150 Mental Retardation, Autosomal Recessive 15 26
1675 URC006 Urocanase Deficiency 25
1676 c MNT207 Mental Retardation, X-Linked, Syndromic 32 25
1677 c MNT200 Mental Retardation, X-Linked 97 23
1678 c MNT234 Mental Retardation, Autosomal Recessive 48 23
1679 c PNT048 Pontocerebellar Hypoplasia, Type 2c 23
1680 c PNT052 Pontocerebellar Hypoplasia, Type 12 22
1681 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
1682 c MNT215 Mental Retardation, Autosomal Recessive 43 21
1683 c MNT333 Mental Retardation, X-Linked 107 20
1684 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 20
1685 c PNT053 Pontocerebellar Hypoplasia, Type 13 19
1686 c MNT196 Mental Retardation, X-Linked 92 19
1687 c SYN078 Syndromic X-Linked Intellectual Disability Type 10 19
1688 c MNT172 Mental Retardation, Autosomal Recessive 25 18
1689 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 14
1690 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 66
1691 c PRX045 Peroxisome Biogenesis Disorder 1b 61
1692 c PRX059 Peroxisome Biogenesis Disorder 1a 57
1693 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 55
1694 c BRD014 Bardet-Biedl Syndrome 2 51
1695 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51
1696 P MNT319 Mental Retardation, Autosomal Dominant 20 51
1697 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 44
1698 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 39
1699 c PRX063 Peroxisome Biogenesis Disorder 2a 33
1700 c PRX055 Peroxisome Biogenesis Disorder 11a 33
1701 c PRX060 Peroxisome Biogenesis Disorder 5a 32
1702 c PRX057 Peroxisome Biogenesis Disorder 4a 31
1703 c PRX051 Peroxisome Biogenesis Disorder 6a 30
1704 c PRX050 Peroxisome Biogenesis Disorder 9b 30
1705 c PRX065 Peroxisome Biogenesis Disorder 3a 30
1706 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 30
1707 c PRX043 Peroxisome Biogenesis Disorder 6b 30
1708 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 29
1709 c PRX054 Peroxisome Biogenesis Disorder 12a 29
1710 c MNT272 Mental Retardation, Autosomal Dominant 41 28
1711 c PRX058 Peroxisome Biogenesis Disorder 4b 28
1712 c PRX053 Peroxisome Biogenesis Disorder 14b 28
1713 c PRX048 Peroxisome Biogenesis Disorder 10a 28
1714 c PRX046 Peroxisome Biogenesis Disorder 7a 27
1715 c MNT334 Mental Retardation, Autosomal Dominant 57 27
1716 c PRX047 Peroxisome Biogenesis Disorder 5b 27
1717 c PRX066 Peroxisome Biogenesis Disorder 3b 27
1718 c MNT332 Mental Retardation, Autosomal Dominant 56 26
1719 c PRX062 Peroxisome Biogenesis Disorder 8b 25
1720 c PRX056 Peroxisome Biogenesis Disorder 11b 25
1721 c PRX091 Peroxisome Biogenesis Disorder 8a 25
1722 c PRX052 Peroxisome Biogenesis Disorder 13a 25
1723 P PRX064 Peroxisome Biogenesis Disorder 2b 24
1724 c PRX068 Peroxisome Biogenesis Disorder 7b 24
1725 c PRX089 Peroxisome Biogenesis Disorder 10b 21
1726 c MNT225 Mental Retardation, Autosomal Recessive 47 21
1727 c MNT197 Mental Retardation, X-Linked, Syndromic 9 20
1728 c MNT281 Mental Retardation, Autosomal Recessive 59 19
1729 c MNT161 Mental Retardation, Autosomal Recessive 29 17
1730 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 51
1731 BRJ001 Borjeson-Forssman-Lehmann Syndrome 49
1732 c BRD032 Bardet-Biedl Syndrome 14 46
1733 c MNT185 Mental Retardation, Autosomal Dominant 7 43
1734 c MNT239 Mental Retardation, Autosomal Dominant 35 30
1735 c MNT213 Mental Retardation, Autosomal Recessive 40 27
1736 c MNT324 Mental Retardation, Autosomal Dominant 49 26
1737 c MNT166 Mental Retardation, Autosomal Recessive 39 26
1738 c MNT321 Mental Retardation, Autosomal Recessive 37 26
1739 c MNT244 Mental Retardation, Autosomal Recessive 49 25
1740 c MNT325 Mental Retardation, Autosomal Recessive 61 24
1741 c MNT339 Mental Retardation, Autosomal Recessive 66 23
1742 c MNT285 Mental Retardation, Autosomal Recessive 58 23
1743 c MNT154 Mental Retardation, Autosomal Recessive 14 21
1744 c MNT277 Mental Retardation, Autosomal Recessive 54 19
1745 c MNT243 Mental Retardation, Autosomal Recessive 50 19
1746 c MNT180 Mental Retardation, Autosomal Recessive 33 17
1747 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 40
1748 c MNT226 Mental Retardation, Autosomal Dominant 31 31
1749 c MNT246 Mental Retardation, Autosomal Dominant 38 28
1750 c MNT216 Mental Retardation, Autosomal Recessive 41 26
1751 c MNT328 Mental Retardation, Autosomal Dominant 52 26
1752 c MNT236 Mental Retardation, Autosomal Dominant 39 26
1753 c MNT329 Mental Retardation, Autosomal Dominant 53 25
1754 c MNT155 Mental Retardation, Autosomal Recessive 2 24
1755 c MNT336 Mental Retardation, Autosomal Recessive 64 21
1756 c MNT220 Mental Retardation, Autosomal Recessive 45 20
1757 c MNT163 Mental Retardation, Autosomal Recessive 30 17
1758 c MNT245 Mental Retardation, Autosomal Dominant 36 42
1759 c MNT212 Mental Retardation, Autosomal Dominant 26 37
1760 c MNT282 Mental Retardation, Autosomal Recessive 55 27
1761 c MNT176 Mental Retardation, Autosomal Recessive 38 26
1762 c MNT330 Mental Retardation, Autosomal Dominant 54 24
1763 c MNT227 Mental Retardation, Autosomal Recessive 46 24
1764 c MNT263 Mental Retardation, Autosomal Recessive 51 20
1765 c MNT240 Mental Retardation, Autosomal Dominant 33 40
1766 c MNT214 Mental Retardation, Autosomal Dominant 24 39
1767 c MNT179 Mental Retardation, Autosomal Dominant 21 34
1768 c MNT323 Mental Retardation, Autosomal Dominant 48 34
1769 c MNT222 Mental Retardation, Autosomal Dominant 29 30
1770 c MNT219 Mental Retardation, Autosomal Dominant 30 30
1771 c MNT183 Mental Retardation, Autosomal Recessive 36 27
1772 c MNT280 Mental Retardation, Autosomal Dominant 43 27
1773 c MNT184 Mental Retardation, Autosomal Dominant 11 25
1774 c MNT238 Mental Retardation, Autosomal Dominant 34 25
1775 c MNT326 Mental Retardation, Autosomal Dominant 50 24
1776 c MNT327 Mental Retardation, Autosomal Dominant 51 24
1777 c MNT286 Mental Retardation, Autosomal Dominant 45 24
1778 c MNT177 Mental Retardation, Autosomal Recessive 27 23
1779 c MNT278 Mental Retardation, Autosomal Dominant 46 22
1780 c MNT221 Mental Retardation, Autosomal Recessive 44 22
1781 c MNT151 Mental Retardation, Autosomal Recessive 18 22
1782 c MNT335 Mental Retardation, Autosomal Recessive 63 19
1783 c MNT284 Mental Retardation, Autosomal Recessive 56 18
1784 c ATS394 Autosomal Dominant Mental Retardation 55 7



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