Mental Diseases Category (2059 diseases)


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

# Family MCID Name MIFTS
1 AMY027 Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 57
2 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 40
3 MNT056 Mental Retardation, X-Linked, Syndromic, Nascimento Type 30
4 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 65
5 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 43
6 KHL003 Kohlschutter-Tonz Syndrome 59
7 KFR001 Kufor-Rakeb Syndrome 59
8 CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 38
9 FLP001 Filippi Syndrome 37
10 RFQ001 Rafiq Syndrome 27
11 MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 25
12 DNT005 Dentatorubral-Pallidoluysian Atrophy 60
13 MNT254 Mental Retardation Syndrome, Mietens-Weber Type 23
14 PCD002 Pcdh19-Related Female-Limited Epilepsy 14
15 P SPN202 Spinocerebellar Ataxia, X-Linked 1 41
16 c SPN364 Spinocerebellar Ataxia, X-Linked 3 38
17 c SPN363 Spinocerebellar Ataxia, X-Linked 4 35
18 c SPN203 Spinocerebellar Ataxia, X-Linked 5 31
19 c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 24
20 FRN030 Frontotemporal Dementia with Parkinsonism-17 24
21 c SPN403 Spinocerebellar Ataxia, X-Linked 2 20
22 DPR016 Depression 65
23 SMN008 Semantic Dementia 47
24 P INC029 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 37
25 c INC031 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 31
26 c AMY104 Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia 25
27 AMY102 Amyotrophic Lateral Sclerosis, Juvenile, with Dementia 24
28 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 21
29 RTN207 Retinopathy, Pigmentary, and Mental Retardation 19
30 DMN012 Dementia - Subcortical 18
31 ABR010 Abri Amyloidosis 14
32 P HYP097 Hyperekplexia 62
33 c HYP699 Hyperekplexia 1 44
34 P AMY106 Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia 44
35 HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 37
36 c HYP519 Hyperekplexia 3 33
37 AMM001 Amme Complex 28
38 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 26
39 c HYP510 Hyperekplexia 2 25
40 c HYP825 Hyperekplexia 4 23
41 SCT004 Scott Bryant Graham Syndrome 22
42 ATR089 Atrioventricular Dissociation 21
43 ABD008 Abidi X-Linked Mental Retardation Syndrome 16
44 c SPR097 Sporadic Hyperekplexia 12
45 BRK002 Birk-Barel Syndrome 40
46 c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 28
47 GRN060 Grn-Related Frontotemporal Lobar Degeneration 28
48 DMN026 Dementia Pugilistica 27
49 c AMY105 Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia 33
50 c INC015 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 33
51 OHD003 Ohdo Syndrome, X-Linked 29
52 c HYP830 Hypomagnesemia, Seizures, and Mental Retardation 1 20
53 c AMY099 Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia 18
54 NVL002 Novelty Seeking Personality Trait 15
55 TRN026 Tranebjaerg Svejgaard Syndrome 13
56 P PRK057 Parkinson Disease, Late-Onset 80
57 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 58
58 c CRB193 Cerebral Amyloid Angiopathy, App-Related 55
59 TMT002 Temtamy Preaxial Brachydactyly Syndrome 54
60 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 53
61 P RST001 Restless Legs Syndrome 52
62 BRN045 Brunner Syndrome 52
63 c PRK093 Parkinson Disease 8, Autosomal Dominant 49
64 c HRD173 Hereditary Late-Onset Parkinson Disease 49
65 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 45
66 c PRK065 Parkinson Disease 20, Early-Onset 44
67 c PRK052 Parkinson Disease 17 43
68 c PRK071 Parkinson Disease 14, Autosomal Recessive 42
69 CKS001 Ck Syndrome 40
70 c ERL056 Early-Onset Parkinson's Disease 40
71 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 39
72 c PRK090 Parkinson Disease 3, Autosomal Dominant 38
73 c PRK091 Parkinson Disease 4, Autosomal Dominant 37
74 c PRK070 Parkinson Disease 21 36
75 c RST012 Restless Legs Syndrome 1 33
76 P GLY112 Glycosylphosphatidylinositol Biosynthesis Defect 1 33
77 c PRK025 Parkinson Disease 10 33
78 MGL033 Megalocornea-Mental Retardation Syndrome 29
79 c GLY103 Glycosylphosphatidylinositol Biosynthesis Defect 15 26
80 c PRK098 Parkinson Disease 5, Autosomal Dominant 25
81 c PRK083 Parkinson Disease 22, Autosomal Dominant 25
82 c JVN058 Juvenile-Onset Parkinson's Disease 25
83 c PRK094 Parkinson Disease 11, Autosomal Dominant 25
84 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 25
85 c PRK099 Parkinson Disease 18, Autosomal Dominant 24
86 c GLY108 Glycosylphosphatidylinositol Biosynthesis Defect 18 23
87 KCN019 Kcnk9 Imprinting Syndrome 22
88 c PRK096 Parkinson Disease 13, Autosomal Dominant 22
89 c RST020 Restless Legs Syndrome 6 21
90 c AMY074 Amyotrophic Lateral Sclerosis Type 14 21
91 c ALP076 Alopecia-Mental Retardation Syndrome 1 21
92 c GLY107 Glycosylphosphatidylinositol Biosynthesis Defect 17 21
93 c GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 20
94 RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 20
95 BLP044 Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 20
96 SBC025 Subcortical Arteriosclerotic Encephalopathy 19
97 RDL026 Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome 18
98 GMS002 Gms Syndrome 18
99 c PRK058 Parkinson Disease 16 18
100 LMB066 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 18
101 c PRK022 Parkinson Disease 12 17
102 MNT311 Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration 17
103 PTR031 Pterygium Colli and Mental Retardation with Facial and Digital Anomalies 17
104 P MNT312 Mental Health Wellness 1 15
105 SPS218 Spastic Diplegia and Mental Retardation 15
106 SPN347 Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 15
107 c RST016 Restless Legs Syndrome 7 15
108 c RST013 Restless Legs Syndrome 2 13
109 c RST014 Restless Legs Syndrome 3 13
110 c RST015 Restless Legs Syndrome 4 12
111 c VPS003 Vps35-Related Parkinson Disease 12
112 c RST021 Restless Legs Syndrome 5 12
113 CHM008 Chmp2b Frontotemporal Dementia 12
114 CRN293 Craniosynostosis-Mental Retardation-Clefting Syndrome 11
115 AMY015 Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 11
116 c RST019 Restless Legs Syndrome 8 11
117 c MNT313 Mental Health Wellness 2 10
118 MRT007 Martsolf Syndrome 48
119 ADS004 Aids Dementia Complex 40
120 PSD088 Pseudobulbar Affect 33
121 FGS004 Fg Syndrome 4 27
122 FXC001 Foix Chavany Marie Syndrome 27
123 c ALP109 Alopecia-Mental Retardation Syndrome 4 24
124 P ALP110 Alopecia-Mental Retardation Syndrome 18
125 c AMY114 Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal Dementia 11
126 SCH071 Schaaf-Yang Syndrome 53
127 CHR594 Chromosome 3q29 Deletion Syndrome 42
128 c AMY113 Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal Dementia 28
129 P INC035 Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 3 27
130 c INC033 Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2 26
131 MCR378 Microangiopathy and Leukoencephalopathy, Pontine, Autosomal Dominant 24
132 INT377 Intellectual Developmental Disorder, Autosomal Dominant 63, with Macrocephaly 22
133 CHR669 Chromosome 2p16.3 Deletion Syndrome 22
134 DRM023 Dermoodontodysplasia 20
135 c ALP075 Alopecia-Mental Retardation Syndrome 2 17
136 XLN132 X-Linked Intellectual Disability, Schimke Type 13
137 c AMY091 Amyotrophic Lateral Sclerosis 1 88
138 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 70
139 c TYR012 Tyrosinemia, Type I 61
140 MSL001 Measles 61
141 P CRB154 Cerebrocostomandibular Syndrome 56
142 P OLV001 Olivopontocerebellar Atrophy 51
143 P MRN003 Marinesco-Sjogren Syndrome 51
144 c KLF004 Kleefstra Syndrome 1 50
145 P TYR004 Tyrosinemia 50
146 c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 49
147 c TYR013 Tyrosinemia, Type Ii 49
148 P KLF001 Kleefstra Syndrome 46
149 CLB026 Colobomatous Microphthalmia 46
150 c AMY090 Amyotrophic Lateral Sclerosis 8 43
151 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 42
152 OLV002 Oliver Syndrome 41
153 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 41
154 c TYR011 Tyrosinemia, Type Iii 41
155 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 41
156 c AMY069 Amyotrophic Lateral Sclerosis 21 39
157 CHR492 Chromosome 13q14 Deletion Syndrome 39
158 c AMY083 Amyotrophic Lateral Sclerosis 11 39
159 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 38
160 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 38
161 CHR590 Chromosome 15q11-Q13 Duplication Syndrome 36
162 c AMY085 Amyotrophic Lateral Sclerosis 9 36
163 c AMY059 Amyotrophic Lateral Sclerosis 19 34
164 c AMY067 Amyotrophic Lateral Sclerosis 18 34
165 c AMY023 Amyotrophic Lateral Sclerosis Type 6 34
166 c CRB170 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 33
167 c KLF005 Kleefstra Syndrome 2 33
168 c AMY022 Amyotrophic Lateral Sclerosis Type 5 33
169 c AMY088 Amyotrophic Lateral Sclerosis 3 31
170 c AMY063 Amyotrophic Lateral Sclerosis 20 31
171 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 31
172 c AMY081 Amyotrophic Lateral Sclerosis Type 12 28
173 PRL014 Paralytic Squint 28
174 c AMY089 Amyotrophic Lateral Sclerosis 7 28
175 c AMY079 Amyotrophic Lateral Sclerosis Type 15 26
176 RMN002 Ramon Syndrome 26
177 c KLF002 Kleefstra Syndrome Due to a Point Mutation 25
178 MTP004 Metaphyseal Acroscyphodysplasia 23
179 CHR158 Charles Bonnet Syndrome 23
180 P ALP068 Alopecia-Intellectual Disability Syndrome 23
181 c AMY110 Amyotrophic Lateral Sclerosis 24 22
182 INT371 Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type 22
183 c AMY108 Amyotrophic Lateral Sclerosis 23 21
184 OHD002 Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant 21
185 MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 21
186 MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 20
187 CHR397 Chromosome Xp11.3 Deletion Syndrome 20
188 KNN010 Kennerknecht Syndrome 20
189 INT343 Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects 20
190 c AMY109 Amyotrophic Lateral Sclerosis Type 22 20
191 OCL043 Oculorenocerebellar Syndrome 20
192 c AMY112 Amyotrophic Lateral Sclerosis 25 19
193 DSS005 Dissociated Nystagmus 18
194 BRC121 Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation 18
195 ARL006 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 17
196 HYP688 Hypospadias-Mental Retardation Syndrome 17
197 c TRD001 Tardbp-Related Amyotrophic Lateral Sclerosis 17
198 EPL162 Epilepsy-Telangiectasia 17
199 MNT255 Mental Retardation and Psoriasis 17
200 CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 16
201 DXT003 Dextrocardia with Unusual Facies and Microphthalmia 16
202 THM019 Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay 16
203 ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 16
204 GRN059 Grn Frontotemporal Dementia 16
205 BRC089 Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome 15
206 CHM001 Cahmr Syndrome 15
207 c OLV005 Olivopontocerebellar Atrophy V 15
208 DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 15
209 ART029 Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 15
210 SPS195 Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 15
211 SPS193 Spastic Paraplegia, Epilepsy, and Mental Retardation 14
212 ECT104 Ectodermal Dysplasia with Mental Retardation and Syndactyly 13
213 INT286 Intellectual Disability-Spasticity-Ectrodactyly Syndrome 13
214 DWR021 Dwarfism, Mental Retardation, and Eye Abnormality 12
215 MNT039 Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 12
216 HYP816 Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes 12
217 STR104 Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Facial Features 12
218 c OLV006 Olivopontocerebellar Atrophy Ii, Autosomal Recessive 12
219 SPN396 Spinal Muscular Atrophy with Mental Retardation 12
220 PRS056 Presenile Dementia, Kraepelin Type 11
221 ART149 Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies 11
222 DVR003 Devriendt Syndrome 11
223 CTR179 Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy 11
224 C9R003 C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 11
225 FCL076 Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 11
226 VTL010 Vitiligo, Progressive, with Mental Retardation and Urethral Duplication 10
227 MNT299 Mental and Growth Retardation with Amblyopia 10
228 CTS047 Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation 9
229 ATX043 Ataxia with Myoclonic Epilepsy and Presenile Dementia 9
230 c ALP081 Alopecia Intellectual Disability Syndrome 2 9
231 SPN397 Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 9
232 DMN041 Dementia/parkinsonism with Non-Alzheimer Amyloid Plaques 9
233 EPL197 Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation 8
234 KNR001 Koone Rizzo Elias Syndrome 8
235 c MRN006 Marinesco-Sjogren-Like Syndrome 8
236 PFF003 Pfeiffer Mayer Syndrome 7
237 SNG001 Singh Chhaparwal Dhanda Syndrome 7
238 c CRB078 Cerebrocostomandibular-Like Syndrome 7
239 PSS002 Piussan Lenaerts Mathieu Syndrome 7
240 P ATX048 Ataxia with Dementia 7
241 MCR072 Microdontia Hypodontia Short Stature 7
242 ZZM001 Zazam Sheriff Phillips Syndrome 7
243 CTS013 Cutis Verticis Gyrata Mental Deficiency 6
244 FBR095 Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation 6
245 SHR110 Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 6
246 CRT027 Cartwright Nelson Fryns Syndrome 5
247 DKR001 Duker Weiss Siber Syndrome 5
248 FNG007 Feingold Trainer Syndrome 5
249 KSZ002 Kosztolanyi Syndrome 5
250 NRD075 Neurodegenerative Disease with Dementia 5
251 SMM001 Sammartino Decreccio Syndrome 5
252 MCR344 Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 5
253 INT089 Intellectual Deficit - Short Stature - Hypertelorism 5
254 FRN054 Frontotemporal Degeneration with Dementia 5
255 GNT105 Genetic Dementia 5
256 MTB017 Metabolic Disease with Dementia 3
257 CNT055 Cantu Sanchez-Corona Hernandez Syndrome 3
258 GRX001 Grix Blankenship Peterson Syndrome 3
259 c LTN027 Late-Onset Ataxia with Dementia 3
260 c ERL061 Early-Onset Ataxia with Dementia 3
261 CRB214 Cerebral Lipidosis with Dementia 3
262 GNT109 Genetic Frontotemporal Degeneration with Dementia 2
263 TBC004 Tobacco Addiction 63
264 VSC002 Vascular Dementia 60
265 ETN001 Eating Disorder 59
266 P SBS003 Substance Abuse 54
267 AMN003 Amnestic Disorder 54
268 ACT084 Acute Stress Disorder 54
269 UNV001 Unverricht-Lundborg Syndrome 53
270 IMP005 Impotence 52
271 PNG002 Pain Agnosia 51
272 CND002 Conduct Disorder 51
273 SMT001 Somatization Disorder 50
274 OPT003 Opiate Dependence 49
275 SXL003 Sexual Disorder 49
276 P TCD001 Tic Disorder 49
277 OPP004 Oppositional Defiant Disorder 49
278 CCN002 Cocaine Abuse 49
279 MLD018 Mild Cognitive Impairment 48
280 PTH002 Pathological Gambling 48
281 CCN001 Cocaine Dependence 48
282 SPC010 Speech and Communication Disorders 48
283 WTH001 Withdrawal Disorder 48
284 SBS004 Substance Dependence 47
285 ADJ001 Adjustment Disorder 47
286 c SPL067 Split-Hand/foot Malformation 1 46
287 DRG003 Drug Dependence 46
288 c CNT015 Central Sleep Apnea 46
289 SPC005 Speech Disorder 45
290 ATY001 Atypical Depressive Disorder 45
291 CNN002 Cannabis Abuse 45
292 OPD001 Opioid Abuse 44
293 PHB003 Phobia, Specific 44
294 ALX001 Alexia 44
295 HRN003 Heroin Dependence 44
296 PRM003 Premature Ejaculation 44
297 DLY008 Delayed Sleep Phase Disorder 44
298 MTS001 Mutism 44
299 c SPL024 Split-Hand/foot Malformation 3 44
300 c FTL006 Fetal Alcohol Spectrum Disorder 43
301 SBC016 Subacute Delirium 43
302 P SPL061 Split Hand-Foot Malformation 43
303 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 42
304 MRP001 Morphine Dependence 42
305 MLN003 Melancholia 41
306 RTR001 Retrograde Amnesia 41
307 HYP030 Hypoactive Sexual Desire Disorder 41
308 NNT008 Neonatal Abstinence Syndrome 40
309 NMN001 Nominal Aphasia 40
310 RDN001 Reading Disorder 40
311 GND002 Gender Identity Disorder 40
312 TRN007 Transsexualism 39
313 ANT019 Anterograde Amnesia 38
314 PCD001 Pica Disease 38
315 P SYN057 Syndromic Intellectual Disability 38
316 CNN001 Cannabis Dependence 38
317 AGR018 Agraphia 37
318 ALX002 Alexithymia 37
319 IDM001 Ideomotor Apraxia 37
320 c CHR056 Chronic Tic Disorder 36
321 AMP007 Amphetamine Abuse 36
322 c ALZ062 Alzheimer Disease 19 36
323 c SPL033 Split-Hand/foot Malformation 6 36
324 KLP001 Kleptomania 36
325 DYS004 Dyscalculia 35
326 c NRC010 Narcolepsy 2 35
327 FCT008 Factitious Disorder 34
328 ANS006 Anosognosia 34
329 c ALZ032 Alzheimer Disease 18 34
330 ART014 Articulation Disorder 34
331 PRD002 Periodic Limb Movement Disorder 34
332 ECH002 Echolalia 33
333 c SPL070 Split-Hand/foot Malformation 2 32
334 STR015 Stereotypic Movement Disorder 32
335 BST003 Bestiality 31
336 P SPC019 Specific Language Impairment 31
337 SXL001 Sexual Sadism 31
338 PSY003 Psychosexual Disorder 31
339 PRP015 Paraphilia Disorder 31
340 TRN006 Transvestism 31
341 SBS005 Substance-Induced Psychosis 30
342 ANH003 Anhaptoglobinemia 30
343 c SPL025 Split-Hand/foot Malformation 5 30
344 SBJ001 Subjective Cognitive Decline 30
345 SPC003 Specific Developmental Disorder 29
346 PRG074 Progressive Myoclonus Epilepsy, Lafora Type 29
347 MNC002 Munchausen by Proxy 29
348 PDP001 Pedophilia 29
349 GTP001 Gait Apraxia 29
350 BRB002 Barbiturate Dependence 28
351 PYR003 Pyromania 27
352 c SCH081 Schizophrenia 6 27
353 ALC003 Alcoholic Psychosis 27
354 ANM002 Animal Phobia 26
355 CLR009 Color Agnosia 26
356 CPG001 Capgras Syndrome 26
357 FLY001 Flying Phobia 26
358 BRB003 Barbiturate Abuse 25
359 EXH001 Exhibitionism 25
360 WRT002 Writing Disorder 25
361 AMS001 Amusia 24
362 SDN002 Sudanophilic Cerebral Sclerosis 24
363 EXP001 Expressive Language Disorder 24
364 ASS001 Associative Agnosia 24
365 FTS001 Fetishism 24
366 c ALZ014 Alzheimer Disease 16 23
367 HLL005 Hallucinogen Dependence 23
368 c ASP032 Asperger Syndrome 1 23
369 PHN001 Phencyclidine Abuse 22
370 NSP004 Nosophobia 22
371 ELC001 Elective Mutism 22
372 AKN001 Akinetopsia 21
373 c CFF016 Coffin-Siris Syndrome 11 21
374 VYR001 Voyeurism 21
375 PHN002 Phonagnosia 21
376 c ALZ060 Alzheimer Disease 14 21
377 MXD044 Mixed Sleep Apnea 21
378 c ATS371 Autism 6 20
379 ADS003 Aids Phobia 20
380 c SCH052 Schizophrenia 14 19
381 FNG001 Finger Agnosia 19
382 SXL002 Sexual Masochism 19
383 ATT001 Autotopagnosia 19
384 APP006 Apperceptive Agnosia 18
385 c TRN005 Transient Tic Disorder 17
386 c ASP031 Asperger Syndrome 2 17
387 c ATS171 Autism 9 16
388 c ATS172 Autism 10 16
389 16P008 16p11.2 Duplication 16
390 c DYS125 Dyslexia 8 16
391 c ATS374 Autism 12 15
392 MXD002 Mixed Receptive-Expressive Language Disorder 15
393 CRP036 Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome 15
394 MYL024 Myelinoclastic Diffuse Sclerosis 14
395 c MJR013 Major Depressive Disorder 1 14
396 c MJR014 Major Depressive Disorder 2 13
397 c NRC013 Narcolepsy 5 13
398 c ASP033 Asperger Syndrome 3 13
399 c PNC070 Panic Disorder 2 13
400 c PNC068 Panic Disorder 3 12
401 c DYS124 Dyslexia 6 12
402 c SPC015 Specific Language Impairment 4 12
403 HLL002 Hallucinogen Abuse 11
404 c DYS126 Dyslexia 9 10
405 c TSB001 T-Substance Anomaly 10
406 c ATT021 Attention Deficit-Hyperactivity Disorder 3 10
407 INT031 Integrative Agnosia 10
408 TPG001 Topographical Agnosia 10
409 c NNS074 Non-Syndromic X-Linked Intellectual Disability 19 9
410 c NNS078 Non-Syndromic X-Linked Intellectual Disability 45 9
411 PSY001 Psychologic Vaginismus 8
412 MRR002 Mirror Agnosia 8
413 c NNS091 Non-Syndromic X-Linked Intellectual Disability 88 6
414 c NNS092 Non-Syndromic X-Linked Intellectual Disability 46 6
415 PSY002 Psychologic Dyspareunia 6
416 c NNS079 Non-Syndromic X-Linked Intellectual Disability 84 6
417 c NNS086 Non-Syndromic X-Linked Intellectual Disability 91 6
418 TMG001 Time Agnosia 5
419 SMN003 Semantic Agnosia 4
420 SCL006 Social Emotional Agnosia 4
421 ANT016 Antidepressant Type Abuse 4
422 MNT303 Mental Retardation, X-Linked, Syndromic, Cabezas Type 37
423 MSS001 Masa Syndrome 60
424 P CRB185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 54
425 ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 38
426 c HYP553 Hyperphosphatasia with Mental Retardation Syndrome 3 25
427 CRP034 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 22
428 CRB151 Cerebral Creatine Deficiency Syndrome 1 50
429 P PLY180 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 56
430 MNT310 Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 35
431 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 67
432 LKN025 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 66
433 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66
434 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 55
435 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 44
436 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 43
437 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 43
438 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 43
439 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 42
440 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 41
441 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 39
442 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 6
443 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 5
444 MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 46
445 P HYP441 Hyperphosphatasia with Mental Retardation Syndrome 1 42
446 RLN001 Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 23
447 P HRD021 Hereditary Sensory Neuropathy 48
448 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 48
449 c NRP039 Neuropathy, Hereditary Sensory, Type Id 39
450 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 36
451 c NRP036 Neuropathy, Hereditary Sensory, Type if 30
452 c SPT021 Sptlc1-Related Hereditary Sensory Neuropathy 15
453 P CTS001 Cutis Laxa 65
454 c DVL033 Developmental and Epileptic Encephalopathy 1 56
455 c CTS045 Cutis Laxa, Autosomal Dominant 1 53
456 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 53
457 c DVL042 Developmental and Epileptic Encephalopathy 14 50
458 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
459 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 48
460 c DVL029 Developmental and Epileptic Encephalopathy 2 47
461 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 47
462 c DVL038 Developmental and Epileptic Encephalopathy 7 46
463 c ATS393 Autosomal Recessive Cutis Laxa Type I 46
464 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 46
465 c CTS041 Cutis Laxa, Autosomal Dominant 3 45
466 c DVL027 Developmental and Epileptic Encephalopathy 9 45
467 c DVL037 Developmental and Epileptic Encephalopathy 5 44
468 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 44
469 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 44
470 c DVL034 Developmental and Epileptic Encephalopathy 3 44
471 P DVL113 Developmental and Epileptic Encephalopathy 43
472 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 43
473 c DVL041 Developmental and Epileptic Encephalopathy 13 42
474 c DVL030 Developmental and Epileptic Encephalopathy 36 40
475 c DVL039 Developmental and Epileptic Encephalopathy 11 40
476 c CTS031 Cutis Laxa, Autosomal Dominant 2 40
477 c DVL049 Developmental and Epileptic Encephalopathy 23 40
478 c DVL036 Developmental and Epileptic Encephalopathy 39 39
479 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 38
480 c DVL044 Developmental and Epileptic Encephalopathy 16 38
481 c DVL077 Developmental and Epileptic Encephalopathy 53 38
482 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 37
483 c DVL055 Developmental and Epileptic Encephalopathy 29 37
484 CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 36
485 c DVL060 Developmental and Epileptic Encephalopathy 50 36
486 c DVL052 Developmental and Epileptic Encephalopathy 26 36
487 c DVL050 Developmental and Epileptic Encephalopathy 24 36
488 c DVL059 Developmental and Epileptic Encephalopathy 33 34
489 c DVL040 Developmental and Epileptic Encephalopathy 12 34
490 c DVL061 Developmental and Epileptic Encephalopathy 34 34
491 c DVL045 Developmental and Epileptic Encephalopathy 17 33
492 c DVL100 Developmental and Epileptic Encephalopathy 76 33
493 c DVL043 Developmental and Epileptic Encephalopathy 15 33
494 WSM002 Waisman Syndrome 33
495 c DVL054 Developmental and Epileptic Encephalopathy 28 32
496 c ATP003 Atp6v0a2-Related Cutis Laxa 32
497 c DVL053 Developmental and Epileptic Encephalopathy 27 31
498 c DVL067 Developmental and Epileptic Encephalopathy 42 31
499 c DVL057 Developmental and Epileptic Encephalopathy 31 29
500 c DVL103 Developmental and Epileptic Encephalopathy 80 29
501 c DVL062 Developmental and Epileptic Encephalopathy 35 29
502 c DVL090 Developmental and Epileptic Encephalopathy 66 29
503 c DVL048 Developmental and Epileptic Encephalopathy 21 28
504 c DVL056 Developmental and Epileptic Encephalopathy 30 28
505 c DVL069 Developmental and Epileptic Encephalopathy 44 27
506 c DVL099 Developmental and Epileptic Encephalopathy 75 27
507 c DVL063 Developmental and Epileptic Encephalopathy 37 27
508 c DVL078 Developmental and Epileptic Encephalopathy 54 27
509 c DVL046 Developmental and Epileptic Encephalopathy 18 27
510 c DVL091 Developmental and Epileptic Encephalopathy 67 26
511 c DVL094 Developmental and Epileptic Encephalopathy 70 26
512 c DVL076 Developmental and Epileptic Encephalopathy 52 26
513 c DVL089 Developmental and Epileptic Encephalopathy 65 26
514 c DVL064 Developmental and Epileptic Encephalopathy 38 25
515 c DVL058 Developmental and Epileptic Encephalopathy 32 25
516 c DVL079 Developmental and Epileptic Encephalopathy 55 25
517 c DVL097 Developmental and Epileptic Encephalopathy 73 25
518 c DVL088 Developmental and Epileptic Encephalopathy 64 25
519 c DVL101 Developmental and Epileptic Encephalopathy 78 25
520 c DVL080 Developmental and Epileptic Encephalopathy 56 25
521 c DVL075 Developmental and Epileptic Encephalopathy 51 25
522 c DVL107 Developmental and Epileptic Encephalopathy 84 25
523 c DVL047 Developmental and Epileptic Encephalopathy 19 25
524 c DVL066 Developmental and Epileptic Encephalopathy 41 25
525 c DVL068 Developmental and Epileptic Encephalopathy 43 24
526 c DVL073 Developmental and Epileptic Encephalopathy 48 24
527 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 24
528 c DVL109 Developmental and Epileptic Encephalopathy 87 24
529 c DVL083 Developmental and Epileptic Encephalopathy 59 24
530 c DVL112 Developmental and Epileptic Encephalopathy 89 24
531 c DVL093 Developmental and Epileptic Encephalopathy 69 24
532 c DVL081 Developmental and Epileptic Encephalopathy 57 24
533 c DVL092 Developmental and Epileptic Encephalopathy 68 24
534 c DVL104 Developmental and Epileptic Encephalopathy 81 24
535 c DVL071 Developmental and Epileptic Encephalopathy 46 24
536 c ACQ027 Acquired Cutis Laxa 24
537 c DVL074 Developmental and Epileptic Encephalopathy 49 24
538 c DVL072 Developmental and Epileptic Encephalopathy 47 24
539 c DVL086 Developmental and Epileptic Encephalopathy 62 23
540 c DVL070 Developmental and Epileptic Encephalopathy 45 23
541 c DVL087 Developmental and Epileptic Encephalopathy 63 23
542 c LTB003 Ltbp4-Related Cutis Laxa 23
543 c FBL003 Fbln5-Related Cutis Laxa 23
544 c DVL105 Developmental and Epileptic Encephalopathy 82 23
545 c DVL084 Developmental and Epileptic Encephalopathy 60 23
546 c DVL102 Developmental and Epileptic Encephalopathy 79 23
547 c DVL098 Developmental and Epileptic Encephalopathy 74 23
548 c ATS451 Autosomal Recessive Cutis Laxa Type 2 23
549 c DVL095 Developmental and Epileptic Encephalopathy 71 22
550 c DVL106 Developmental and Epileptic Encephalopathy 83 22
551 c DVL096 Developmental and Epileptic Encephalopathy 72 22
552 c DVL085 Developmental and Epileptic Encephalopathy 61 22
553 c EFM001 Efemp2-Related Cutis Laxa 21
554 c DVL082 Developmental and Epileptic Encephalopathy 58 21
555 c DVL065 Developmental and Epileptic Encephalopathy 40 21
556 c DVL110 Developmental and Epileptic Encephalopathy 88 20
557 c DVL108 Developmental and Epileptic Encephalopathy 86 19
558 c DVL032 Developmental and Epileptic Encephalopathy 90 10
559 EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 67
560 MNT302 Mental Retardation, X-Linked, Syndromic, Christianson Type 35
561 MNT307 Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 29
562 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 29
563 c CRB195 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 23
564 OHD004 Ohdo Syndrome 49
565 INT370 Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type 32
566 INT384 Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type 27
567 NRD101 Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly 26
568 XLN134 X-Linked Intellectual Disability, Siderius Type 25
569 P HNT016 Huntington Disease 73
570 c HNT010 Huntington Disease-Like 1 55
571 c HNT011 Huntington Disease-Like 3 34
572 c JVN015 Juvenile Huntington Disease 24
573 c HNT013 Huntington Disease-Like Syndrome 18
574 c HNT014 Huntington Disease-Like Syndrome Due to C9orf72 Expansions 14
575 c CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 27
576 P PRN023 Prion Disease 60
577 P ATS366 Autism X-Linked 2 41
578 MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 37
579 KHR001 Kahrizi Syndrome 33
580 MNT320 Mental Retardation, Autosomal Dominant 6, with or Without Seizures 30
581 P NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 28
582 NRD103 Neurodevelopmental Disorder with Microcephaly and Gray Sclerae 28
583 c GLY106 Glycosylphosphatidylinositol Biosynthesis Defect 11 24
584 c NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 23
585 c INH032 Inherited Human Prion Disease 13
586 c SPR154 Sporadic Human Prion Disease 9
587 c ACQ069 Acquired Human Prion Disease 9
588 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 49
589 NRD057 Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects 30
590 MNT257 Mental Retardation, X-Linked, with Craniofacial Dysmorphism 18
591 c CHR630 Chorea, Benign Hereditary 41
592 INT372 Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type 32
593 MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 30
594 c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 29
595 MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 29
596 c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 26
597 MNT107 Mental Retardation, Fra12a Type 20
598 SBN004 Sabinas Brittle Hair Syndrome 18
599 P CHR636 Chorea, Benign Familial 12
600 PRR007 Perry Syndrome 52
601 TMP011 Temple-Baraitser Syndrome 34
602 GND017 Gand Syndrome 32
603 RCH002 Richards-Rundle Syndrome 31
604 RNL120 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation 28
605 P HYP834 Hypomagnesemia, Seizures, and Mental Retardation 2 22
606 MNT283 Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly 20
607 PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 17
608 ACR008 Acrocallosal Syndrome 70
609 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 54
610 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 36
611 INT383 Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type 27
612 HYD054 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 26
613 CRN268 Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis 25
614 MNT256 Mental Retardation, Buenos Aires Type 25
615 EPL170 Epilepsy-Aphasia Spectrum 21
616 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 21
617 RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 19
618 HLL013 Hall-Riggs Mental Retardation Syndrome 18
619 MNT030 Mental Retardation Syndrome, Belgian Type 18
620 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 18
621 SCH022 Schimke X-Linked Mental Retardation Syndrome 16
622 DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 16
623 WLF012 Wolff Mental Retardation Syndrome 15
624 KFF001 Kifafa Seizure Disorder 15
625 ULN022 Ulnar Hypoplasia with Mental Retardation 14
626 CTR173 Cataract, Ataxia, Short Stature, and Mental Retardation 14
627 ULN019 Ulna Hypoplasia-Intellectual Disability Syndrome 12
628 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 68
629 ALX003 Alexander Disease 61
630 P MCR010 Microcephaly 60
631 c RBN021 Rubinstein-Taybi Syndrome 1 57
632 c PRM031 Primary Autosomal Recessive Microcephaly 55
633 P NRM002 Normal Pressure Hydrocephalus 49
634 NCL006 Nicolaides-Baraitser Syndrome 46
635 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 45
636 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 43
637 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 42
638 c MCR238 Microcephaly 7, Primary, Autosomal Recessive 42
639 c MCR320 Microcephaly 17, Primary, Autosomal Recessive 41
640 c PRM212 Primary Microcephaly 40
641 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 40
642 TMT003 Temtamy Syndrome 37
643 ART103 Arthrogryposis, Mental Retardation, and Seizures 37
644 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 37
645 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 35
646 c MCR329 Microcephaly, Autosomal Dominant 32
647 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 32
648 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 32
649 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 32
650 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 31
651 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 29
652 c MCR356 Microcephaly 19, Primary, Autosomal Recessive 28
653 MMS001 Momo Syndrome 28
654 CLF050 Cleft Palate, Cardiac Defects, and Mental Retardation 27
655 c MCR360 Microcephaly 20, Primary, Autosomal Recessive 24
656 c HYD071 Hydrocephalus, Normal-Pressure, 1 21
657 P RBN007 Rubinstein Taybi Like Syndrome 20
658 c MCR362 Microcephaly 22, Primary, Autosomal Recessive 19
659 MNT306 Mental Retardation, X-Linked, Syndromic, Houge Type 19
660 c MCR372 Microcephaly 25, Primary, Autosomal Recessive 19
661 c MCR361 Microcephaly 21, Primary, Autosomal Recessive 18
662 c MCR368 Microcephaly 24, Primary, Autosomal Recessive 17
663 c MCR363 Microcephaly 23, Primary, Autosomal Recessive 17
664 c MCR382 Microcephaly 26, Primary, Autosomal Dominant 15
665 c MCR383 Microcephaly 27, Primary, Autosomal Dominant 11
666 CLF027 Cleft Palate, Isolated 64
667 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 54
668 MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 53
669 NRN008 Neuronal Intranuclear Inclusion Disease 47
670 JWD001 Jawad Syndrome 34
671 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 33
672 MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 30
673 XLN162 X-Linked Intellectual Disability, Najm Type 27
674 RCH010 Richieri-Costa/guion-Almeida Syndrome 26
675 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 26
676 MNT118 Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 26
677 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 25
678 c INC034 Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 1 21
679 MCR370 Macrocephaly, Acquired, with Impaired Intellectual Development 20
680 MNT331 Mental Retardation, Autosomal Dominant 55, with Seizures 17
681 ALD006 Aldred Syndrome 10
682 PLT011 Pilotto Syndrome 8
683 c MCL042 Macular Degeneration, Age-Related, 1 85
684 HMN044 Human Immunodeficiency Virus Type 1 78
685 c CNG411 Congenital Disorder of Glycosylation, Type in 67
686 P NRN021 Neuronal Ceroid Lipofuscinosis 65
687 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 63
688 P SPN301 Spinocerebellar Ataxia 2 59
689 c CNG415 Congenital Disorder of Glycosylation, Type Ia 59
690 c SPN309 Spinocerebellar Ataxia 6 58
691 AYM001 Ayme-Gripp Syndrome 56
692 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 56
693 P DYS193 Dystonia 11, Myoclonic 55
694 c SPN101 Spinocerebellar Ataxia 29 54
695 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 54
696 c SPN291 Spinocerebellar Ataxia 7 53
697 c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 53
698 c SPN294 Spinocerebellar Ataxia 1 53
699 c PNT034 Pontocerebellar Hypoplasia, Type 2e 52
700 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 52
701 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 51
702 c CNG206 Congenital Disorder of Glycosylation, Type Ie 51
703 c CNG191 Congenital Disorder of Glycosylation, Type Iia 50
704 SCB001 Scabies 50
705 WRN002 Wernicke-Korsakoff Syndrome 50
706 c CNG389 Congenital Disorder of Glycosylation, Type Iim 49
707 c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 49
708 c CNG203 Congenital Disorder of Glycosylation, Type Iii 49
709 c SPN106 Spinocerebellar Ataxia 5 49
710 c SPN311 Spinocerebellar Ataxia 13 48
711 c SPN308 Spinocerebellar Ataxia 28 48
712 WDM004 Wiedemann-Steiner Syndrome 48
713 c CNG194 Congenital Disorder of Glycosylation, Type Ig 47
714 c SPN304 Spinocerebellar Ataxia 8 47
715 c CRD226 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive 47
716 c SPN314 Spinocerebellar Ataxia 10 47
717 c SPN296 Spinocerebellar Ataxia 17 47
718 P PLL002 Pellagra 46
719 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 46
720 c SPN312 Spinocerebellar Ataxia 14 46
721 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 45
722 c SPN293 Spinocerebellar Ataxia 12 45
723 BSL009 Basal Ganglia Calcification 45
724 c CNG193 Congenital Disorder of Glycosylation, Type Ip 45
725 LRN001 Laurence-Moon Syndrome 45
726 c CNG204 Congenital Disorder of Glycosylation, Type Iih 45
727 c SPN305 Spinocerebellar Ataxia 11 45
728 c CNG190 Congenital Disorder of Glycosylation, Type Iib 44
729 c CNG199 Congenital Disorder of Glycosylation, Type Im 44
730 c CRD239 Ceroid Lipofuscinosis, Neuronal, 13 44
731 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 44
732 c CNG414 Congenital Disorder of Glycosylation, Type Iil 44
733 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 44
734 c CNG383 Congenital Disorder of Glycosylation, Type Iik 44
735 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 43
736 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 43
737 c CNG201 Congenital Disorder of Glycosylation, Type Iij 43
738 c CNG185 Congenital Disorder of Glycosylation, Type Iig 43
739 c CNG209 Congenital Disorder of Glycosylation, Type Iif 43
740 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 42
741 c SPN265 Spinocerebellar Ataxia 36 42
742 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 42
743 c SPN100 Spinocerebellar Ataxia 27 41
744 c CNG197 Congenital Disorder of Glycosylation, Type Ih 41
745 c SPN290 Spinocerebellar Ataxia 15 41
746 c SPN104 Spinocerebellar Ataxia 34 40
747 c SPN097 Spinocerebellar Ataxia 23 40
748 c SPN096 Spinocerebellar Ataxia 21 40
749 c SPN284 Spinocerebellar Ataxia 38 40
750 MST006 Mast Syndrome 40
751 c CNG198 Congenital Disorder of Glycosylation, Type Il 40
752 c CNG498 Congenital Disorder of Glycosylation, Type Iin 40
753 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 40
754 c SPN266 Spinocerebellar Ataxia 35 40
755 c CNG379 Congenital Disorder of Glycosylation, Type It 39
756 c CNG189 Congenital Disorder of Glycosylation, Type Ib 39
757 c MCL039 Macular Degeneration, Age-Related, 8 39
758 c SPN103 Spinocerebellar Ataxia 31 38
759 c CNG497 Congenital Disorder of Glycosylation, Type Iio 38
760 c CNG187 Congenital Disorder of Glycosylation, Type Iid 38
761 c CNG196 Congenital Disorder of Glycosylation, Type Ic 38
762 c MCL041 Macular Degeneration, Age-Related, 7 38
763 c SPN105 Spinocerebellar Ataxia 4 38
764 CHR662 Chromosome 15q13.3 Deletion Syndrome 38
765 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 38
766 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 38
767 c CNG195 Congenital Disorder of Glycosylation, Type Id 37
768 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 37
769 c CNG504 Congenital Disorder of Glycosylation, Type Iip 37
770 c MCL044 Macular Degeneration, Age-Related, 9 37
771 c SPN247 Spinocerebellar Ataxia Type 19/22 37
772 c CNG200 Congenital Disorder of Glycosylation, Type Iq 36
773 c SPN419 Spinocerebellar Ataxia 45 36
774 SPS226 Spastic Paraplegia, Ataxia, and Mental Retardation 36
775 c MCL078 Macular Degeneration, Age-Related, 14 36
776 c MCL043 Macular Degeneration, Age-Related, 2 36
777 c SPN283 Spinocerebellar Ataxia 37 36
778 c MCL038 Macular Degeneration, Age-Related, 4 36
779 SMT020 Smith-Kingsmore Syndrome 36
780 c CNG188 Congenital Disorder of Glycosylation, Type if 35
781 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 35
782 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 35
783 c CNG386 Congenital Disorder of Glycosylation, Type Iu 35
784 c CNG205 Congenital Disorder of Glycosylation, Type Ij 34
785 c CNG192 Congenital Disorder of Glycosylation, Type Ik 34
786 c SPN102 Spinocerebellar Ataxia 30 33
787 MCR025 Microhydranencephaly 33
788 c SPN299 Spinocerebellar Ataxia 20 33
789 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 33
790 c SPN095 Spinocerebellar Ataxia 19 33
791 c SPN383 Spinocerebellar Ataxia 42 33
792 c SPN099 Spinocerebellar Ataxia 26 32
793 c MCL036 Macular Degeneration, Age-Related, 6 32
794 c SPN094 Spinocerebellar Ataxia 18 32
795 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 31
796 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
797 c CNG416 Congenital Disorder of Glycosylation, Type Iy 31
798 c MCL052 Macular Degeneration, Age-Related, 13 31
799 NSY001 N Syndrome 30
800 c SPN427 Spinocerebellar Ataxia 48 30
801 c SPN286 Spinocerebellar Ataxia 40 29
802 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 29
803 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 29
804 c SPN098 Spinocerebellar Ataxia 25 28
805 PLL004 Pallister W Syndrome 28
806 c CNG378 Congenital Disorder of Glycosylation, Type Ir 27
807 SPN368 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 27
808 c CNG388 Congenital Disorder of Glycosylation, Type Iw 27
809 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
810 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 27
811 CHR506 Choroideremia, Deafness, and Mental Retardation 27
812 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 27
813 c SPN421 Spinocerebellar Ataxia 47 27
814 c SPN420 Spinocerebellar Ataxia 46 27
815 c SPN418 Spinocerebellar Ataxia 44 26
816 c SPN372 Spinocerebellar Ataxia 43 26
817 c SYN073 Syngap1-Related Intellectual Disability 26
818 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 25
819 c CNG617 Congenital Disorder of Glycosylation, Type Iit 25
820 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24
821 c MCL077 Macular Degeneration, Age-Related, 5 24
822 c MCL030 Macular Degeneration, Age-Related, 10 24
823 c SPN323 Spinocerebellar Ataxia 41 23
824 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 23
825 MCD002 Mcdonough Syndrome 23
826 c CNG615 Congenital Disorder of Glycosylation, Type Iir 23
827 c SPN440 Spinocerebellar Ataxia, Autosomal Recessive 28 22
828 P MCL058 Macular Degeneration, Early-Onset 22
829 LWR016 Lowry-Maclean Syndrome 22
830 c DYS175 Dystonia 26, Myoclonic 22
831 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 21
832 c MCL051 Macular Degeneration, Age-Related, 12 21
833 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 21
834 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 21
835 GRR002 Gurrieri Syndrome 21
836 P BMN004 Biemond Syndrome Ii 21
837 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 20
838 MD2001 Med23 20
839 MCR305 Microcephaly with Cervical Spine Fusion Anomalies 20
840 HNT017 Hunter-Mcalpine Craniosynostosis Syndrome 20
841 RSS027 Russell-Silver Syndrome, X-Linked 19
842 FLL034 Fallot Complex with Severe Mental and Growth Retardation 19
843 c DYS058 Dystonia 15, Myoclonic 19
844 PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 19
845 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 19
846 MCR052 Microcephaly Microcornea Syndrome Seemanova Type 19
847 c SPN259 Spinocerebellar Ataxia 32 19
848 MCR306 Microcephaly-Deafness Syndrome 18
849 INT387 Intellectual Developmental Disorder, Autosomal Dominant 60, with Seizures 18
850 OST047 Osteopenia and Sparse Hair 18
851 c MCL032 Macular Degeneration, Age-Related, 11 18
852 c MCL065 Macular Degeneration, Age-Related, 15 18
853 c PLL014 Pellagra-Like Syndrome 17
854 MRF017 Marfanoid Mental Retardation Syndrome, Autosomal 17
855 KZL006 Kozlowski-Krajewska Syndrome 17
856 MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 17
857 ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 17
858 MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 17
859 LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 16
860 CHR580 Choroid Plexus Calcification and Mental Retardation 16
861 SPS047 Spastic Paraplegia with Precocious Puberty 16
862 VND003 Van Den Bosch Syndrome 16
863 MNT315 Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 16
864 SPS194 Spastic Paresis, Glaucoma, and Mental Retardation 16
865 EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 15
866 CDL001 Caudal Appendage Deafness 15
867 c ALP063 Alopecia-Mental Retardation Syndrome 3 15
868 ALP067 Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome 15
869 c SPN107 Spinocerebellar Ataxia 9 15
870 CTS046 Cutis Verticis Gyrata and Mental Retardation 15
871 c CSK002 Cask-Related Intellectual Disability 14
872 CRN103 Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 14
873 c BCL018 Bcl11a-Related Intellectual Disability 14
874 CRM012 Cree Mental Retardation Syndrome 14
875 PLN009 Palant Cleft Palate Syndrome 13
876 XLN128 X-Linked Intellectual Disability, Abidi Type 13
877 MTR081 Motor Neuron Disease with Dementia and Ophthalmoplegia 13
878 MND028 Mandibulofacial Dysostosis with Mental Retardation 12
879 PRK068 Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments 12
880 OHD001 Ohdo Syndrome, Maat-Kievit-Brunner Type 12
881 MNT316 Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 11
882 TNK001 Tonoki Syndrome 11
883 P RRN017 Rare Intellectual Disability 11
884 STB003 Setbp1 Disorder 11
885 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 10
886 HRD035 Hair Defect with Photosensitivity and Mental Retardation 10
887 c TRR002 Trio-Related Intellectual Disability 10
888 c HVP001 Hivep2-Related Intellectual Disability 10
889 c WCR002 Wac-Related Intellectual Disability 10
890 SCR041 Sucrosuria, Hiatus Hernia and Mental Retardation 9
891 MNT250 Mental Retardation with Spastic Paraplegia 9
892 HYP783 Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 9
893 SPS217 Spastic Paraplegia, Optic Atrophy, and Dementia 9
894 c WDR002 Wdr26-Related Intellectual Disability 9
895 c ATS403 Autosomal Dominant Intellectual Disability 40 9
896 IND013 Indolylacroyl Glycinuria with Mental Retardation 8
897 PSD115 Pseudouridinuria and Mental Defect 8
898 PFF002 Pfeiffer Kapferer Syndrome 8
899 c ATS360 Autosomal Recessive Intellectual Disability 58 7
900 c PPP001 Ppp2r5d-Related Intellectual Disability 7
901 CNT052 Cantalamessa Baldini Ambrosi Syndrome 7
902 ZRR001 Zerres Rietschel Majewski Syndrome 7
903 SPS183 Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome 6
904 c GRD008 Grid2-Related Spinocerebellar Ataxia 6
905 P DSR041 Disorder of Multiple Glycosylation 6
906 CNT053 Cantu Sanchez-Corona Fragoso Syndrome 5
907 ICH006 Ichthyosis Alopecia Eclabion Ectropion Mental Retardation 5
908 KZL003 Kozlowski Ouvrier Syndrome 5
909 HRD179 Hair Defect-Photosensitivity-Intellectual Disability Syndrome 5
910 SPN344 Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 5
911 ANM047 Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/mental Retardation Syndrome 5
912 HRD065 Hordnes Engebretsen Knudtson Syndrome 5
913 PTR009 Pterygium Colli Mental Retardation Digital Anomalies 5
914 c ATS348 Autosomal Dominant Intellectual Disability 30 5
915 MCR342 Microcephaly, Macrotia, and Mental Retardation 4
916 KTS001 Katsantoni Papadakou Lagoyanni Syndrome 4
917 PRG135 Progressive Dementia with Neuroserpin Inclusion Bodies 4
918 c DDX001 Ddx3x-Related Intellectual Disability 3
919 RRC034 Rare Cerebrovascular Dementia 3
920 c BMN003 Biemond Syndrome Type 1 3
921 CNG099 Congenital Heart Disease Radio Ulnar Synostosis Mental Retardation 3
922 GNT110 Genetic Neurodegenerative Disease with Dementia 3
923 CRN064 Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation 2
924 EPL007 Epilepsy Mental Deterioration Finnish Type 2
925 P RTT002 Rett Syndrome 79
926 DRV001 Dravet Syndrome 69
927 P ATS364 Autism 69
928 ALC007 Alcohol Dependence 66
929 DMN031 Dementia, Lewy Body 65
930 P KBK002 Kabuki Syndrome 1 65
931 GLL008 Gilles De La Tourette Syndrome 65
932 P PTT014 Pitt-Hopkins Syndrome 64
933 MDD011 Mood Disorder 62
934 CHR066 Chronic Fatigue Syndrome 60
935 ANR007 Anorexia Nervosa 60
936 P ALP009 Alopecia Areata 59
937 c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 59
938 BLM002 Bulimia Nervosa 57
939 P RHZ001 Rhizomelic Chondrodysplasia Punctata 57
940 GNR004 Generalized Anxiety Disorder 55
941 END040 Endogenous Depression 55
942 SCH003 Schizophreniform Disorder 55
943 P AGN002 Agnosia 54
944 BRD004 Borderline Personality Disorder 53
945 P PRV006 Pervasive Developmental Disorder 52
946 DYS009 Dysthymic Disorder 52
947 BRX001 Bruxism 51
948 LBS001 Lubs X-Linked Mental Retardation Syndrome 50
949 P CHR345 Chronic Pain 50
950 PST021 Postpartum Depression 50
951 BRN071 Brain Injury 50
952 SCH012 Schizoaffective Disorder 50
953 PRN009 Paranoid Schizophrenia 49
954 LRN003 Learning Disability 49
955 AVD001 Avoidant Personality Disorder 49
956 c ALZ049 Alzheimer Disease 2 48
957 SCL003 Social Phobia 48
958 c SCK009 Seckel Syndrome 1 48
959 OPD006 Opioid Addiction 48
960 ANT011 Antisocial Personality Disorder 47
961 RMS001 Rem Sleep Behavior Disorder 47
962 HYP016 Hypochondriasis 47
963 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 46
964 c PNT036 Pontocerebellar Hypoplasia, Type 6 46
965 P PNT019 Pontocerebellar Hypoplasia 46
966 c PNT018 Pontocerebellar Hypoplasia, Type 1b 46
967 AGR002 Agoraphobia 45
968 PHB001 Phobic Disorder 45
969 IMP006 Impulse Control Disorder 45
970 DLS001 Delusional Disorder 45
971 WHT019 White-Sutton Syndrome 44
972 ANP006 Anaplastic Ependymoma 44
973 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 44
974 FRG008 Fragile X-Associated Tremor/ataxia Syndrome 44
975 c PNT049 Pontocerebellar Hypoplasia, Type 2d 43
976 c ADV003 Advanced Sleep Phase Syndrome, Familial, 1 43
977 OBS003 Obsessive-Compulsive Personality Disorder 43
978 c ALZ054 Alzheimer Disease 4 43
979 c PNT039 Pontocerebellar Hypoplasia, Type 7 41
980 c PNT043 Pontocerebellar Hypoplasia, Type 4 41
981 SPR012 Separation Anxiety Disorder 41
982 c PTT030 Pitt-Hopkins-Like Syndrome 2 41
983 BDY001 Body Dysmorphic Disorder 41
984 c PNT044 Pontocerebellar Hypoplasia, Type 2a 41
985 c PNT045 Pontocerebellar Hypoplasia, Type 1a 41
986 P ADV001 Advanced Sleep Phase Syndrome 41
987 P DYS005 Dyslexia 41
988 CYC005 Cyclothymic Disorder 40
989 c PNT032 Pontocerebellar Hypoplasia, Type 9 40
990 c BRD021 Bardet-Biedl Syndrome 9 40
991 c PNT010 Pontocerebellar Hypoplasia Type 1 40
992 DSS010 Dissociative Disorder 39
993 c PNT037 Pontocerebellar Hypoplasia, Type 3 39
994 INT025 Intermittent Explosive Disorder 39
995 TRN012 Transient Global Amnesia 38
996 CDQ001 Cauda Equina Syndrome 37
997 c SPL034 Split-Hand/foot Malformation 4 37
998 ALC001 Alcohol-Related Birth Defect 36
999 SCH011 Schizotypal Personality Disorder 36
1000 c PNT033 Pontocerebellar Hypoplasia, Type 10 35
1001 DVL001 Developmental Coordination Disorder 34
1002 VSL003 Visual Agnosia 33
1003 ATY003 Atypical Autism 33
1004 RMN001 Rumination Disorder 33
1005 c KBK003 Kabuki Syndrome 2 33
1006 c MJR006 Major Affective Disorder 5 32
1007 MGC007 Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations 32
1008 P NNS031 Non-Syndromic Intellectual Disability 32
1009 c PNT030 Pontocerebellar Hypoplasia, Type 8 32
1010 c RCR002 Recurrent Hypersomnia 31
1011 HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 31
1012 CMB002 Combat Disorder 30
1013 c RTT008 Rett Syndrome, Congenital Variant 30
1014 ALC002 Alcohol-Related Neurodevelopmental Disorder 30
1015 c PNT046 Pontocerebellar Hypoplasia, Type 5 30
1016 P HRD084 Hereditary Cerebral Amyloid Angiopathy 30
1017 DRG001 Drug Psychosis 30
1018 MLD017 Mal De Debarquement Syndrome 29
1019 c MLT010 Multiple Personality Disorder 29
1020 c SCH083 Schizophrenia 7 29
1021 VSC004 Vasculogenic Impotence 29
1022 c ALZ061 Alzheimer Disease 15 28
1023 c PNT050 Pontocerebellar Hypoplasia, Type 11 28
1024 c ALC016 Alcohol Sensitivity, Acute 28
1025 CRP028 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 28
1026 DSS002 Dissociative Amnesia 28
1027 HST001 Histrionic Personality Disorder 27
1028 c SCH064 Schizophrenia 10 27
1029 c PNT051 Pontocerebellar Hypoplasia, Type 1d 27
1030 SCH004 Schizoid Personality Disorder 27
1031 c DYS121 Dyslexia 1 27
1032 c PNT047 Pontocerebellar Hypoplasia, Type 2b 27
1033 c ATS173 Autism 18 27
1034 PRN010 Paranoid Personality Disorder 27
1035 c PNT035 Pontocerebellar Hypoplasia, Type 1c 27
1036 DPN001 Dependent Personality Disorder 27
1037 CRT007 Cortical Deafness 26
1038 ADT001 Auditory Agnosia 26
1039 c PNT053 Pontocerebellar Hypoplasia, Type 13 26
1040 NRC003 Narcissistic Personality Disorder 26
1041 DSS025 Dissociative Seizures 25
1042 CNC001 Cancerophobia 25
1043 c ADV006 Advanced Sleep Phase Syndrome, Familial, 3 25
1044 c ATS358 Autism X-Linked 6 24
1045 NRD086 Neurodevelopmental Disorder with Behavioral Abnormalities, Absent Speech, and Hypotonia 24
1046 c DYS120 Dyslexia 2 24
1047 c ATS268 Autism X-Linked 4 24
1048 c SCH045 Schizophrenia 12 23
1049 TCT002 Tactile Agnosia 23
1050 c PNT048 Pontocerebellar Hypoplasia, Type 2c 22
1051 c FRM002 Form Agnosia 22
1052 c CFF015 Coffin-Siris Syndrome 10 22
1053 c PNT052 Pontocerebellar Hypoplasia, Type 12 21
1054 PRT001 Partial Fetal Alcohol Syndrome 21
1055 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
1056 CNT067 Central Cord Syndrome 21
1057 c ATS378 Autism 17 21
1058 c ALP039 Alopecia Areata 1 20
1059 c ATS377 Autism 16 20
1060 INT311 Intellectual Developmental Disorder with Neuropsychiatric Features 20
1061 DVL019 Developmental Delay and Seizures with or Without Movement Abnormalities 19
1062 c PNC122 Panic Disorder 1 19
1063 AST004 Astereognosia 19
1064 c SPC027 Specific Language Impairment 1 19
1065 VRB001 Verbal Auditory Agnosia 18
1066 CLT002 Cluttering 16
1067 c ALP040 Alopecia Areata 2 16
1068 c ATS372 Autism 7 16
1069 c SPC028 Specific Language Impairment 2 14
1070 c NRC018 Narcolepsy 6 14
1071 c CHR344 Chronic Orthostatic Intolerance 14
1072 ORG003 Organic Mood Syndrome 13
1073 c DYS122 Dyslexia 3 13
1074 c ATT020 Attention Deficit-Hyperactivity Disorder 2 13
1075 c ASP034 Asperger Syndrome 4 13
1076 c FRN061 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8 12
1077 c RRP002 Rare Pervasive Developmental Disorder 12
1078 c ATT019 Attention Deficit-Hyperactivity Disorder 1 11
1079 c SPC029 Specific Language Impairment 3 11
1080 c DYS123 Dyslexia 5 11
1081 c NNS073 Non-Syndromic X-Linked Intellectual Disability 2 10
1082 c ATT022 Attention Deficit-Hyperactivity Disorder 4 10
1083 c RRS011 Rare Sleep Disorder 9
1084 EGD001 Ego-Dystonic Sexual Orientation 8
1085 c NNS077 Non-Syndromic X-Linked Intellectual Disability 14 8
1086 c NNS090 Non-Syndromic X-Linked Intellectual Disability 82 8
1087 c RRS015 Rare Syndromic Intellectual Disability 7
1088 VSL001 Visual Verbal Agnosia 7
1089 PRG048 Progressive Locomotor Ataxia 7
1090 c NNS081 Non-Syndromic X-Linked Intellectual Disability 81 6
1091 c NNS084 Non-Syndromic X-Linked Intellectual Disability 77 6
1092 c RRD010 Rare Disease with Autism 4
1093 FTL063 Fetal Nicotine Spectrum Disorder 3
1094 BNT006 Bain Type of X-Linked Syndromic Intellectual Disability 3
1095 SYP007 Syphilitic Spinal Sclerosis 3
1096 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 64
1097 CHR696 Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia 32
1098 P CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 51
1099 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 48
1100 ENC039 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 45
1101 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 43
1102 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 37
1103 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 33
1104 ALP094 Alpha Thalassemia-Intellectual Disability Syndrome Type 1 32
1105 c CHR697 Charcot-Marie-Tooth Disease X-Linked Recessive 4 31
1106 c XLN110 X-Linked Charcot-Marie-Tooth Disease 31
1107 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 31
1108 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 33
1109 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 64
1110 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 60
1111 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 54
1112 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 47
1113 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 47
1114 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 45
1115 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 44
1116 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 44
1117 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 39
1118 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 39
1119 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 36
1120 P MSC002 Muscular Dystrophy-Dystroglycanopathy 35
1121 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 33
1122 c CNG557 Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 32
1123 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 32
1124 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 32
1125 OPT062 Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures 32
1126 c CNG546 Congenital Muscular Dystrophy-Dystroglycanopathy Type a 31
1127 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 30
1128 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 30
1129 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 30
1130 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 29
1131 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 28
1132 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 28
1133 c CNG551 Congenital Muscular Dystrophy-Dystroglycanopathy A7 28
1134 c CNG553 Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 28
1135 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 27
1136 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 27
1137 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 27
1138 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 27
1139 c CNG550 Congenital Muscular Dystrophy-Dystroglycanopathy A14 27
1140 c CNG558 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 27
1141 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 27
1142 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 26
1143 c CNG547 Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 24
1144 c CNG554 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 24
1145 c CNG559 Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 23
1146 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 21
1147 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 21
1148 c MSC200 Muscular Dystrophy-Dystroglycanopathy , Type B, 15 18
1149 c CNG556 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 17
1150 c CNG552 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 11
1151 c CNG555 Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 9
1152 c CNG548 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 9
1153 c CNG549 Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 9
1154 BHR001 Behr Syndrome 51
1155 SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 25
1156 BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 23
1157 HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 16
1158 LBN005 Lubani-Al Saleh-Teebi Syndrome 6
1159 HPT019 Hepatic Encephalopathy 59
1160 c WRB002 Warburg Micro Syndrome 1 51
1161 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 50
1162 P WRB001 Warburg Micro Syndrome 41
1163 c WRB003 Warburg Micro Syndrome 2 40
1164 c HRD010 Hereditary Spastic Paraplegia 66
1165 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 58
1166 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 56
1167 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 55
1168 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 50
1169 GRD009 Gordon Holmes Syndrome 50
1170 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 49
1171 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 48
1172 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 48
1173 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 48
1174 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 47
1175 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 44
1176 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 44
1177 c DFN036 Deafness, X-Linked 2 44
1178 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 44
1179 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 42
1180 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 42
1181 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 42
1182 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 42
1183 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 41
1184 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 41
1185 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 41
1186 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 41
1187 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 40
1188 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40
1189 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 40
1190 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 40
1191 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 40
1192 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 39
1193 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 39
1194 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 39
1195 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 39
1196 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 38
1197 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 38
1198 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 38
1199 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 37
1200 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 37
1201 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 37
1202 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 37
1203 c SPS237 Spastic Paraplegia 30, Autosomal Dominant 37
1204 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 36
1205 c DFN194 Deafness, X-Linked 1 35
1206 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 35
1207 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 35
1208 c SPS092 Spastic Paraplegia 11 33
1209 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 33
1210 c DFN147 Deafness, X-Linked 4 33
1211 P SPS012 Spastic Paraplegia 3a 32
1212 c HRD220 Hereditary Spastic Paraplegia 30 32
1213 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 32
1214 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 31
1215 c SPS013 Spastic Paraplegia 8 31
1216 c SPS025 Spastic Paraplegia 15 30
1217 c SPS036 Spastic Paraplegia 3 30
1218 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 30
1219 c SPS039 Spastic Paraplegia 5a 29
1220 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 29
1221 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 29
1222 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
1223 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 29
1224 c DFN276 Deafness, X-Linked 6 29
1225 c HRD186 Hereditary Spastic Paraplegia 51 29
1226 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
1227 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 28
1228 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 28
1229 c XLN004 X-Linked Nonsyndromic Deafness 28
1230 c HRD188 Hereditary Spastic Paraplegia 72 28
1231 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 28
1232 c SPS021 Spastic Paraplegia 10 27
1233 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 27
1234 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 27
1235 c SPS091 Spastic Paraplegia 4 27
1236 c DFN146 Deafness, X-Linked 3 27
1237 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 27
1238 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 27
1239 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 26
1240 c DFN186 Deafness, Y-Linked 1 26
1241 c SPS041 Spastic Paraplegia 6 26
1242 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 25
1243 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 25
1244 c SPS238 Spastic Paraplegia 81, Autosomal Recessive 24
1245 c SPS027 Spastic Paraplegia 17 23
1246 ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 23
1247 c HRD210 Hereditary Spastic Paraplegia 23 22
1248 c DFN370 Deafness, X-Linked 7 21
1249 c SPS239 Spastic Paraplegia 82, Autosomal Recessive 21
1250 c SPS038 Spastic Paraplegia 39 21
1251 c SPS042 Spastic Paraplegia 9 21
1252 c SPS023 Spastic Paraplegia 13 21
1253 P YLN003 Y-Linked Deafness 20
1254 c SPS022 Spastic Paraplegia 12 18
1255 c SPS240 Spastic Paraplegia 83, Autosomal Recessive 17
1256 c SPS028 Spastic Paraplegia 18 16
1257 c SPS034 Spastic Paraplegia 26 16
1258 c DFN372 Deafness, Y-Linked 2 16
1259 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 15
1260 c SPS032 Spastic Paraplegia 24 14
1261 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 14
1262 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 14
1263 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 14
1264 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 13
1265 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 13
1266 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 13
1267 c SPS029 Spastic Paraplegia 19 13
1268 c SPS035 Spastic Paraplegia 29 13
1269 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 12
1270 c SPS024 Spastic Paraplegia 14 12
1271 c SPS165 Spastic Paraplegia 47 12
1272 c SPS161 Spastic Paraplegia 32 11
1273 c SPS026 Spastic Paraplegia 16 11
1274 c SPS033 Spastic Paraplegia 25 11
1275 c SPS230 Spastic Paraplegia Type 49 10
1276 c SPS040 Spastic Paraplegia 5b 7
1277 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 70
1278 P BRD002 Bardet-Biedl Syndrome 66
1279 c BRD010 Bardet-Biedl Syndrome 1 64
1280 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 63
1281 c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 57
1282 SBC001 Subacute Sclerosing Panencephalitis 53
1283 P NRD007 Neurodegeneration with Brain Iron Accumulation 52
1284 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 51
1285 c BRD012 Bardet-Biedl Syndrome 11 51
1286 P FTL002 Fatal Familial Insomnia 50
1287 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 50
1288 c BRD020 Bardet-Biedl Syndrome 8 49
1289 c BRD011 Bardet-Biedl Syndrome 10 49
1290 c BRD015 Bardet-Biedl Syndrome 3 48
1291 c BRD047 Bardet-Biedl Syndrome 16 46
1292 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 44
1293 ADN022 Adenylosuccinase Deficiency 44
1294 c BRD013 Bardet-Biedl Syndrome 12 44
1295 c BRD033 Bardet-Biedl Syndrome 13 43
1296 BLB005 Beaulieu-Boycott-Innes Syndrome 41
1297 c BRD044 Bardet-Biedl Syndrome 17 41
1298 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 41
1299 c BRD048 Bardet-Biedl Syndrome 18 39
1300 c BRD017 Bardet-Biedl Syndrome 5 38
1301 c BRD045 Bardet-Biedl Syndrome 19 37
1302 c BRD035 Bardet-Biedl Syndrome 15 36
1303 c BRD051 Bardet-Biedl Syndrome 20 30
1304 WYB002 Wyburn-Mason Syndrome 29
1305 c BRD050 Bardet-Biedl Syndrome 21 28
1306 CRN267 Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation 24
1307 ATX037 Ataxia-Deafness-Retardation Syndrome 24
1308 NRP046 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers 23
1309 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 22
1310 MCR066 Microcephaly-Cardiomyopathy 21
1311 HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 21
1312 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 20
1313 CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 19
1314 WLM019 Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 18
1315 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 17
1316 c OST149 Osteolysis Syndrome, Recessive 17
1317 MYT024 Myotonia with Skeletal Abnormalities and Mental Retardation 17
1318 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 17
1319 SHR089 Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome 16
1320 ART113 Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability 16
1321 c SPR166 Sporadic Fatal Insomnia 14
1322 GRW038 Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 13
1323 RNL121 Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 12
1324 EHL082 Ehlers-Danlos Syndrome, Beasley-Cohen Type 12
1325 PRN067 Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 10
1326 RMS002 Ramos Arroyo Clark Syndrome 10
1327 WLK002 Walker Dyson Syndrome 7
1328 P PRM337 Primary Osteolysis 7
1329 KRN006 Karandikar Maria Kamble Syndrome 6
1330 XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 6
1331 DSL004 Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 5
1332 EMP013 Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation 5
1333 KZN001 Kuzniecky Andermann Syndrome 4
1334 SHL003 Shoulder Girdle Defect Mental Retardation Familial 4
1335 PRT057 Proteus Like Syndrome Mental Retardation Eye Defect 3
1336 P BDY004 Body Mass Index Quantitative Trait Locus 11 83
1337 DSS008 Disease of Mental Health 74
1338 P SLP006 Sleep Apnea 69
1339 P MJR001 Major Depressive Disorder 68
1340 c NMN015 Niemann-Pick Disease, Type C1 68
1341 APN008 Apnea, Obstructive Sleep 67
1342 PSY004 Psychotic Disorder 66
1343 P DMN002 Dementia 66
1344 P PRS038 Personality Disorder 65
1345 P ANG001 Angelman Syndrome 65
1346 P ATT013 Attention Deficit-Hyperactivity Disorder 64
1347 c NMN013 Niemann-Pick Disease, Type a 63
1348 P ALC033 Alcohol Use Disorder 61
1349 P SLP005 Sleep Disorder 61
1350 c PNS012 Paine Syndrome 60
1351 P NMN002 Niemann-Pick Disease 60
1352 PST028 Post-Traumatic Stress Disorder 59
1353 FRN051 Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related 58
1354 ANP005 Anaplastic Astrocytoma 57
1355 c LSS005 Lissencephaly 1 57
1356 MNT002 Mental Depression 57
1357 NRT001 Neurotic Disorder 56
1358 c NMN016 Niemann-Pick Disease, Type B 56
1359 P BPL003 Bipolar Disorder 56
1360 EBL001 Ebola Hemorrhagic Fever 56
1361 c LSS006 Lissencephaly 2 55
1362 c ALZ056 Alzheimer Disease 3 55
1363 c BRC078 Brachydactyly, Type A1 54
1364 c BDY020 Body Mass Index Quantitative Trait Locus 19 52
1365 APR001 Apraxia 52
1366 P BRC006 Brachydactyly 51
1367 SMT006 Somatoform Disorder 50
1368 c BRC079 Brachydactyly, Type A2 50
1369 P LSS002 Lissencephaly 50
1370 c BRC051 Brachydactyly, Type B1 50
1371 TRC010 Trichotillomania 50
1372 c VNM003 Van Maldergem Syndrome 1 50
1373 c BDY021 Body Mass Index Quantitative Trait Locus 20 49
1374 c NMN014 Niemann-Pick Disease, Type C2 49
1375 c MGL009 Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 48
1376 c BRC081 Brachydactyly, Type C 48
1377 47X002 47,xyy 48
1378 c BDY005 Body Mass Index Quantitative Trait Locus 9 47
1379 c BPL002 Bipolar I Disorder 47
1380 c NGH026 Night Blindness, Congenital Stationary, Type 1a 47
1381 c BDY019 Body Mass Index Quantitative Trait Locus 18 47
1382 P NNS032 Non-Syndromic X-Linked Intellectual Disability 46
1383 c BDY015 Body Mass Index Quantitative Trait Locus 12 46
1384 c BDY010 Body Mass Index Quantitative Trait Locus 4 46
1385 c NGH010 Night Blindness, Congenital Stationary, Autosomal Dominant 2 46
1386 c BDY017 Body Mass Index Quantitative Trait Locus 14 45
1387 c BDY011 Body Mass Index Quantitative Trait Locus 10 45
1388 NRS003 Neurosyphilis 45
1389 c NGH025 Night Blindness, Congenital Stationary, Type 2a 44
1390 c NRC009 Narcolepsy 1 44
1391 ELP001 Elephantiasis 44
1392 XGB001 Xia-Gibbs Syndrome 44
1393 c BDY006 Body Mass Index Quantitative Trait Locus 8 44
1394 c BDY012 Body Mass Index Quantitative Trait Locus 7 44
1395 c ERL020 Early-Onset Schizophrenia 44
1396 c BRC109 Brachydactyly, Type E1 43
1397 P MJR007 Major Affective Disorder 1 42
1398 c CFF007 Coffin-Siris Syndrome 2 42
1399 c NGH007 Night Blindness, Congenital Stationary, Type 1b 42
1400 c WRB004 Warburg Micro Syndrome 3 42
1401 c CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 42
1402 DPR002 Depersonalization Disorder 41
1403 P HYP263 Hypersomnia 41
1404 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 41
1405 c MJR024 Major Affective Disorder 9 41
1406 c BRC052 Brachydactyly, Type B2 40
1407 DCR008 Dicarboxylic Aminoaciduria 40
1408 c BDY007 Body Mass Index Quantitative Trait Locus 1 40
1409 P MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 40
1410 c CRT089 Cortical Dysplasia, Complex, with Other Brain Malformations 10 39
1411 c PTT042 Pitt-Hopkins-Like Syndrome 38
1412 c LSS010 Lissencephaly 4 38
1413 c LSS009 Lissencephaly 3 38
1414 c MJR022 Major Affective Disorder 8 38
1415 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 37
1416 c BRC080 Brachydactyly, Type A1, B 37
1417 c NGH029 Night Blindness, Congenital Stationary, Type 1e 37
1418 c NGH008 Night Blindness, Congenital Stationary, Autosomal Dominant 3 36
1419 c NGH027 Night Blindness, Congenital Stationary, Type 1c 36
1420 c BRC062 Brachydactyly, Type D 35
1421 SYN089 Syndromic X-Linked Intellectual Disability Snyder Type 35
1422 c MNT262 Mental Retardation, Autosomal Dominant 42 35
1423 DYS003 Dysgraphia 35
1424 c VNM002 Van Maldergem Syndrome 2 35
1425 c NGH024 Night Blindness, Congenital Stationary, Type 1h 34
1426 c FRN040 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 34
1427 BRN005 Brain Glioblastoma Multiforme 34
1428 c MNT143 Mental Retardation, Autosomal Dominant 13 34
1429 c MJR008 Major Affective Disorder 2 34
1430 c NGH021 Night Blindness, Congenital Stationary, Autosomal Dominant 1 34
1431 c BRC060 Brachydactyly, Type E2 34
1432 c BRC075 Brachydactyly, Type A1, C 34
1433 c MJR023 Major Affective Disorder 7 33
1434 c MJR003 Major Affective Disorder 6 32
1435 SYN090 Syndromic X-Linked Intellectual Disability Turner Type 32
1436 c CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 32
1437 SML010 Simultanagnosia 32
1438 c CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 32
1439 PST044 Postorgasmic Illness Syndrome 32
1440 DYS198 Dystonia, Focal, Task-Specific 31
1441 c CRT081 Cortical Dysplasia, Complex, with Other Brain Malformations 7 31
1442 NRD028 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 31
1443 TBS001 Tabes Dorsalis 31
1444 c MNT301 Mental Retardation, X-Linked 21 30
1445 c MNT198 Mental Retardation, X-Linked 98 30
1446 c MNT158 Mental Retardation, Autosomal Dominant 22 30
1447 c BRC099 Brachydactyly, Type A4 30
1448 MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 30
1449 c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 30
1450 P VNM004 Van Maldergem Syndrome 29
1451 WTS001 Watson Syndrome 29
1452 c CNT068 Central Pain Syndrome 28
1453 c MJR004 Major Affective Disorder 4 28
1454 c ALZ031 Alzheimer Disease 17 28
1455 c LSS025 Lissencephaly 5 27
1456 c SCH084 Schizophrenia 8 27
1457 VNS015 Van Esch-O'driscoll Syndrome 27
1458 c BRC108 Brachydactyly, Type A3 27
1459 c SCH053 Schizophrenia 13 27
1460 c CRT082 Cortical Dysplasia, Complex, with Other Brain Malformations 8 27
1461 RTB001 Rat Bite Fever 26
1462 c ALZ059 Alzheimer Disease 13 26
1463 PRT055 Prieto X-Linked Mental Retardation Syndrome 26
1464 PDT043 Pediatric Acute-Onset Neuropsychiatric Syndrome 26
1465 c NGH028 Night Blindness, Congenital Stationary, Type 1d 26
1466 INT369 Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type 25
1467 c NGH030 Night Blindness, Congenital Stationary, Type 1f 25
1468 SYN092 Syndromic X-Linked Intellectual Disability Cabezas Type 25
1469 SHP003 Shapiro Syndrome 25
1470 c CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 24
1471 NN2002 Non 24 Hour Sleep Wake Disorder 24
1472 c CFF013 Coffin-Siris Syndrome 8 24
1473 c ATS168 Autosomal Dominant Congenital Stationary Night Blindness 24
1474 c ATS365 Autism X-Linked 1 24
1475 c LSS035 Lissencephaly 8 24
1476 c CRT073 Cortical Dysplasia, Complex, with Other Brain Malformations 5 23
1477 c SCH082 Schizophrenia 5 23
1478 c LSS042 Lissencephaly 10 23
1479 c CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 23
1480 c ATS388 Autosomal Dominant Non-Syndromic Intellectual Disability 6 22
1481 c MNT325 Mental Retardation, Autosomal Recessive 61 22
1482 DRG004 Drug-Induced Mental Disorder 22
1483 c CRT087 Cortical Dysplasia, Complex, with Other Brain Malformations 9 21
1484 c INT388 Intellectual Developmental Disorder, Autosomal Dominant 62 21
1485 SPN409 Spongiform Encephalopathy with Neuropsychiatric Features 21
1486 P CMP082 Complex Cortical Dysplasia with Other Brain Malformations 21
1487 c NGH022 Night Blindness, Congenital Stationary, Type 1g 20
1488 GRD004 Gardner-Diamond Syndrome 20
1489 c INT348 Intellectual Developmental Disorder, Autosomal Recessive 71 20
1490 NRD025 Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations 20
1491 c BRC105 Brachydactyly, Type A1, D 19
1492 c ANG059 Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 19
1493 c INT345 Intellectual Developmental Disorder, Autosomal Recessive 70 19
1494 SHR123 Short Stature and Microcephaly with Genital Anomalies 19
1495 ALC013 Alcohol-Induced Mental Disorder 19
1496 c ANG053 Angelman Syndrome Due to Maternal 15q11q13 Deletion 18
1497 c SPC023 Specific Language Impairment 5 17
1498 c ATS177 Autism X-Linked 5 16
1499 c ANG052 Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 16
1500 c ATS170 Autism 19 16
1501 c ATS373 Autism 11 15
1502 c SYN077 Syndromic X-Linked Intellectual Disability 12 15
1503 c ANG058 Angelman Syndrome Due to a Point Mutation 14
1504 c NRC012 Narcolepsy 4 14
1505 c BRC037 Brachydactyly Type A7 14
1506 c NNS083 Non-Syndromic X-Linked Intellectual Disability 1 14
1507 c MJR021 Major Affective Disorder 3 13
1508 c NNS093 Non-Syndromic X-Linked Intellectual Disability 41 13
1509 SYN083 Syndromic X-Linked Intellectual Disability Shashi Type 13
1510 ADS006 Aids - Neurological Complications 11
1511 c BDY009 Body Mass Index Quantitative Trait Locus 3 11
1512 c BDY016 Body Mass Index Quantitative Trait Locus 13 10
1513 c BDY008 Body Mass Index Quantitative Trait Locus 2 10
1514 c INT393 Intellectual Developmental Disorder, Autosomal Dominant 64 9
1515 c BDY013 Body Mass Index Quantitative Trait Locus 5 9
1516 c BDY018 Body Mass Index Quantitative Trait Locus 15 9
1517 c BRC035 Brachydactyly Type A5 8
1518 c BDY014 Body Mass Index Quantitative Trait Locus 6 8
1519 c NNS076 Non-Syndromic X-Linked Intellectual Disability 58 7
1520 c NNS094 Non-Syndromic X-Linked Intellectual Disability 72 7
1521 c NNS075 Non-Syndromic X-Linked Intellectual Disability 20 6
1522 c NNS085 Non-Syndromic X-Linked Intellectual Disability 90 6
1523 c NNS080 Non-Syndromic X-Linked Intellectual Disability 89 5
1524 c BPL001 Bipolar Ll Disorder 4
1525 SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 59
1526 c ESS001 Essential Tremor 57
1527 P TRM003 Tremor 48
1528 c TRM024 Tremor, Hereditary Essential, 1 34
1529 c TRM017 Tremor, Hereditary Essential, 4 33
1530 c TRM022 Tremor, Hereditary Essential, 5 28
1531 c TRM020 Tremor, Hereditary Essential, 2 26
1532 c TRM016 Tremor, Hereditary Essential, 3 21
1533 c TRM029 Tremor, Hereditary Essential, 6 19
1534 CMR005 Camera-Marugo-Cohen Syndrome 12
1535 c RRT014 Rare Tremor Disorder 4
1536 P ALZ034 Alzheimer Disease 87
1537 P AST005 Asthma 76
1538 P JBR020 Joubert Syndrome 1 74
1539 PLM129 Pulmonary Disease, Chronic Obstructive 74
1540 c ATS007 Autism Spectrum Disorder 72
1541 ANX010 Anxiety 70
1542 PCK003 Pick Disease of Brain 69
1543 OBS002 Obsessive-Compulsive Disorder 68
1544 P CRN037 Craniosynostosis 68
1545 ART002 Arts Syndrome 66
1546 P ATR011 Atrial Fibrillation 66
1547 c FML001 Familial Atrial Fibrillation 65
1548 P DST002 Distal Arthrogryposis 65
1549 FCS002 Fucosidosis 62
1550 P HYP838 Hyperlipidemia, Familial Combined, 3 61
1551 c ART144 Arthrogryposis, Distal, Type 1a 60
1552 P LTR001 Lateral Sclerosis 58
1553 c ART061 Arthrogryposis, Distal, Type 2a 58
1554 RBS001 Rabies 58
1555 HMN047 Human Cytomegalovirus Infection 57
1556 TLR001 Tularemia 56
1557 ISL001 Islet Cell Tumor 56
1558 APH002 Aphasia 56
1559 SML019 Smallpox 55
1560 P FTL001 Fetal Alcohol Syndrome 55
1561 c CRN278 Craniosynostosis 1 55
1562 c JBR041 Joubert Syndrome 3 53
1563 P BSL038 Basal Ganglia Calcification, Idiopathic, 1 53
1564 c JBR018 Joubert Syndrome 4 52
1565 HYP781 Hypoascorbemia 52
1566 P PNC025 Panic Disorder 52
1567 STT041 Stuttering 52
1568 c HNT004 Huntington Disease-Like 2 52
1569 c ART119 Arthrogryposis, Distal, Type 5 51
1570 c ART120 Arthrogryposis, Distal, Type 3 49
1571 c JBR004 Joubert Syndrome 2 48
1572 VTM002 Vitamin B12 Deficiency 48
1573 GLC106 Glucocorticoid Resistance, Generalized 48
1574 HLS003 Helsmoortel-Van Der Aa Syndrome 48
1575 c JBR012 Joubert Syndrome 5 47
1576 CLR029 Clark-Baraitser Syndrome 47
1577 c FRN059 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 47
1578 CNV002 Conversion Disorder 47
1579 P MYC033 Myoclonus 47
1580 c JBR011 Joubert Syndrome 7 46
1581 c JBR015 Joubert Syndrome 6 45
1582 c JBR014 Joubert Syndrome 9 45
1583 c ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 45
1584 c CRD225 Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant 45
1585 c ART155 Arthrogryposis, Distal, Type 2b1 45
1586 P SLL003 Salla Disease 45
1587 c ALZ045 Alzheimer Disease 9 45
1588 c ART147 Arthrogryposis, Distal, Type 7 45
1589 c JBR035 Joubert Syndrome 24 45
1590 CHL012 Childhood Disintegrative Disease 44
1591 c JBR024 Joubert Syndrome 14 44
1592 MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 44
1593 c SCH079 Schizophrenia 1 44
1594 BKS003 Beukes Hip Dysplasia 44
1595 c JBR025 Joubert Syndrome 17 44
1596 c BRD016 Bardet-Biedl Syndrome 4 44
1597 c JBR013 Joubert Syndrome 8 44
1598 c RNG023 Ring Chromosome 7 43
1599 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 43
1600 c JBR026 Joubert Syndrome 15 42
1601 PLY161 Polymicrogyria, Bilateral Perisylvian, X-Linked 42
1602 c JBR031 Joubert Syndrome 21 42
1603 c JBR016 Joubert Syndrome 10 42
1604 VLT001 Vulto-Van Silfhout-De Vries Syndrome 41
1605 c JBR028 Joubert Syndrome 13 41
1606 c CHR711 Chronic Asthma 41
1607 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 41
1608 c ART104 Arthrogryposis, Distal, Type 5d 41
1609 c ACT249 Acute Asthma 40
1610 P ENC054 Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations 40
1611 c MNT319 Mental Retardation, Autosomal Dominant 20 40
1612 c DVL035 Developmental and Epileptic Encephalopathy 4 39
1613 P RNG032 Ring Chromosome 39
1614 c SCH056 Schizophrenia 15 38
1615 c PRM092 Primary Lateral Sclerosis, Adult, 1 38
1616 c WRB005 Warburg Micro Syndrome 4 37
1617 c SCK010 Seckel Syndrome 4 37
1618 PRN039 Paraneoplastic Syndromes 37
1619 c CRN277 Craniosynostosis 2 37
1620 c JBR042 Joubert Syndrome 23 36
1621 P PRS013 Prosopagnosia 36
1622 c PRM195 Primary Lateral Sclerosis, Juvenile 35
1623 c ALZ057 Alzheimer Disease 10 35
1624 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 35
1625 IMM056 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 35
1626 KLV001 Kluver-Bucy Syndrome 34
1627 c ART112 Arthrogryposis, Distal, Type 10 34
1628 OCL034 Oculocerebrocutaneous Syndrome 34
1629 MLS013 Miles-Carpenter Syndrome 34
1630 c JBR030 Joubert Syndrome 22 34
1631 c ALZ050 Alzheimer Disease 5 33
1632 c JBR022 Joubert Syndrome 20 33
1633 c ART060 Arthrogryposis, Distal, Type 1b 33
1634 c JBR037 Joubert Syndrome 26 33
1635 c ALZ053 Alzheimer Disease 7 32
1636 c SCH051 Schizophrenia 4 32
1637 c RNG029 Ring Chromosome 14 Syndrome 31
1638 c ALZ063 Alzheimer's Disease 1 31
1639 c RNG017 Ring Chromosome 21 31
1640 TTR014 Tetrasomy 18p 31
1641 c JBR036 Joubert Syndrome 25 31
1642 c RNG008 Ring Chromosome 13 30
1643 c RNG004 Ring Chromosome 1 30
1644 TNN015 Tonne-Kalscheuer Syndrome 30
1645 c HYP839 Hyperlipidemia, Familial Combined, 1 30
1646 c RNG020 Ring Chromosome 4 30
1647 c CRN281 Craniosynostosis 7 29
1648 CHN077 Chung-Jansen Syndrome 29
1649 c RNG018 Ring Chromosome 22 29
1650 c ATR038 Atrial Fibrillation, Familial, 3 29
1651 c JBR045 Joubert Syndrome 33 29
1652 RYN006 Raynaud-Claes Syndrome 29
1653 c CRN221 Craniosynostosis 4 29
1654 MLL023 Mullegama-Klein-Martinez Syndrome 29
1655 c ALZ058 Alzheimer Disease 11 28
1656 c ART131 Arthrogryposis, Distal, Type 4 28
1657 c MNT270 Mental Retardation, Autosomal Recessive 53 28
1658 c SCH087 Schizophrenia 18 28
1659 c RNG024 Ring Chromosome 8 28
1660 c MNT295 Mental Retardation, X-Linked, Syndromic 33 28
1661 c RNG022 Ring Chromosome 6 28
1662 c ATS385 Autosomal Dominant Non-Syndromic Intellectual Disability 3 28
1663 c SCH080 Schizophrenia 3 28
1664 c ART128 Arthrogryposis, Distal, Type 6 28
1665 c ATR061 Atrial Fibrillation, Familial, 10 27
1666 c ATS367 Autism X-Linked 3 27
1667 c SCH085 Schizophrenia 2 27
1668 c SCH075 Schizophrenia 19 27
1669 c RNG007 Ring Chromosome 12 27
1670 ATS309 Autosomal Dominant Leukodystrophy with Autonomic Disease 27
1671 c ATS384 Autosomal Dominant Non-Syndromic Intellectual Disability 2 27
1672 STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 27
1673 c ALZ016 Alzheimer Disease 8 27
1674 c CRN217 Craniosynostosis 3 26
1675 c RNG016 Ring Chromosome 20 26
1676 c ALZ015 Alzheimer Disease 6 26
1677 c RNG005 Ring Chromosome 10 26
1678 SYN079 Syndromic X-Linked Intellectual Disability Siderius Type 26
1679 c BSL046 Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive 25
1680 c SCH073 Schizophrenia 9 25
1681 c ART157 Arthrogryposis, Distal, Type 2b3 25
1682 c RNG010 Ring Chromosome 15 25
1683 c JBR044 Joubert Syndrome 31 25
1684 c SYN064 Syndromic X-Linked Intellectual Disability 25
1685 c MYC089 Myoclonus, Familial, 1 25
1686 c JBR040 Joubert Syndrome 30 25
1687 c ART156 Arthrogryposis, Distal, Type 2b2 25
1688 c JBR021 Joubert Syndrome 18 24
1689 c CFF006 Coffin-Siris Syndrome 5 24
1690 c ATR035 Atrial Fibrillation, Familial, 6 24
1691 c ATS370 Autism 3 24
1692 c CRN256 Craniosynostosis 6 24
1693 c ALZ012 Alzheimer Disease 12 24
1694 c BSL039 Basal Ganglia Calcification, Idiopathic, 6 24
1695 c JBR039 Joubert Syndrome 28 24
1696 BSL048 Basilicata-Akhtar Syndrome 24
1697 c BSL035 Basal Ganglia Calcification, Idiopathic, 5 24
1698 c SCH061 Schizophrenia 16 24
1699 c BSL032 Basal Ganglia Calcification, Idiopathic, 4 23
1700 c JBR027 Joubert Syndrome 16 23
1701 c ATR037 Atrial Fibrillation, Familial, 7 23
1702 c ATR092 Atrial Fibrillation, Familial, 15 23
1703 c BSL049 Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive 23
1704 c ATS376 Autism 15 23
1705 INT342 Intellectual Developmental Disorder, X-Linked 108 23
1706 c JBR043 Joubert Syndrome 32 23
1707 c RNG013 Ring Chromosome 18 23
1708 P INT385 Intellectual Developmental Disorder, Autosomal Dominant 61 23
1709 c JBR047 Joubert Syndrome 35 23
1710 c NRC017 Narcolepsy 7 22
1711 c RNG015 Ring Chromosome 2 22
1712 c ATR059 Atrial Fibrillation, Familial, 11 22
1713 c PRS058 Prosopagnosia, Hereditary 22
1714 c ATR026 Atrial Fibrillation, Familial, 1 21
1715 c ATR085 Atrial Fibrillation, Familial, 18 21
1716 c SYN082 Syndromic X-Linked Intellectual Disability 14 21
1717 c ATR068 Atrial Fibrillation, Familial, 14 21
1718 c ATS369 Autism 8 21
1719 c ATR070 Atrial Fibrillation, Familial, 9 21
1720 c SCH086 Schizophrenia 11 21
1721 c INT364 Intellectual Developmental Disorder, Autosomal Recessive 72 21
1722 c INT336 Intellectual Developmental Disorder, Autosomal Recessive 68 21
1723 c ATR039 Atrial Fibrillation, Familial, 4 21
1724 c CRN216 Craniosynostosis 5 21
1725 c JBR038 Joubert Syndrome 27 20
1726 PGN002 Paganini-Miozzo Syndrome 20
1727 c ATS474 Autism 20 20
1728 c ATR072 Atrial Fibrillation, Familial, 13 20
1729 c RNG021 Ring Chromosome 5 20
1730 c ADV007 Advanced Sleep Phase Syndrome, Familial, 2 20
1731 c RNG012 Ring Chromosome 17 19
1732 c JBR048 Joubert Syndrome 36 19
1733 c RNG025 Ring Chromosome 9 19
1734 c ART168 Arthrogryposis, Distal, Type 1c 19
1735 c RNG019 Ring Chromosome 3 19
1736 c NNS089 Non-Syndromic X-Linked Intellectual Disability 30 18
1737 PRS119 Persistent Genital Arousal Disorder 18
1738 c ATR069 Atrial Fibrillation, Familial, 12 18
1739 c INT344 Intellectual Developmental Disorder, Autosomal Recessive 69 18
1740 c RNG006 Ring Chromosome 11 18
1741 CHR639 Chromosome Xp11.22 Duplication Syndrome 18
1742 c NRC011 Narcolepsy 3 17
1743 c INT335 Intellectual Developmental Disorder, Autosomal Recessive 67 17
1744 c JBR049 Joubert Syndrome 37 17
1745 c INT386 Intellectual Developmental Disorder, Autosomal Dominant 59 17
1746 MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 17
1747 c RNG014 Ring Chromosome 19 17
1748 ARM005 Armfield Syndrome 16
1749 MSP003 Misophonia 16
1750 c MNT247 Mental Retardation, X-Linked 73 16
1751 c RNG011 Ring Chromosome 16 16
1752 c MYC090 Myoclonus, Familial, 2 16
1753 c RNG031 Ring Chromosome Y Syndrome 15
1754 c ATS375 Autism 13 14
1755 c MNT167 Mental Retardation, Autosomal Recessive 16 14
1756 c MNT165 Mental Retardation, Autosomal Recessive 28 14
1757 c ATR027 Atrial Fibrillation, Familial, 5 14
1758 c ART054 Arthrogryposis, Distal, Type 2e 14
1759 c MCP022 Mecp2-Related Severe Neonatal Encephalopathy 14
1760 c HYP842 Hyperlipidemia, Familial Combined, 2 14
1761 c MNT160 Mental Retardation, Autosomal Recessive 31 13
1762 c INT094 Intermediate Severe Salla Disease 13
1763 c ATR025 Atrial Fibrillation, Familial, 2 12
1764 c ATR028 Atrial Fibrillation, Familial, 8 12
1765 c PRM322 Primary Myoclonus 7
1766 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 7
1767 SYN091 Syndromic X-Linked Intellectual Disability Nascimento Type 6
1768 c ADL100 Adult-Onset Severe Asthma 6
1769 c RRM008 Rare Myoclonus 5
1770 SYN094 Syndromic X-Linked Mental Retardation Hough Type 4
1771 c CRN093 Craniosynostosis Autosomal Dominant 3
1772 c INF189 Infectious Disease with Dementia 3
1773 P SCH015 Schizophrenia 74
1774 P SZR006 Seizure Disorder 70
1775 FRN006 Frontotemporal Dementia 68
1776 P HRP006 Herpes Simplex 65
1777 P FRN044 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 63
1778 P ORT004 Orthostatic Intolerance 63
1779 PRX015 Paroxysmal Extreme Pain Disorder 56
1780 KFM001 Kaufman Oculocerebrofacial Syndrome 55
1781 CRB150 Cerebral Creatine Deficiency Syndrome 2 54
1782 P D2H002 D-2-Hydroxyglutaric Aciduria 1 52
1783 c L2H001 L-2-Hydroxyglutaric Aciduria 49
1784 MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 49
1785 c BRD018 Bardet-Biedl Syndrome 6 49
1786 P ASP001 Asperger Syndrome 48
1787 c ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 48
1788 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 48
1789 CHR174 Christianson Syndrome 47
1790 MHM001 Mehmo Syndrome 47
1791 RNP003 Renpenning Syndrome 1 47
1792 CRT033 Corticobasal Degeneration 47
1793 CYC008 Cyclic Vomiting Syndrome 46
1794 c BRD032 Bardet-Biedl Syndrome 14 46
1795 c SZR007 Seizures, Benign Familial Infantile, 3 45
1796 PRT052 Partington X-Linked Mental Retardation Syndrome 45
1797 FRG010 Fragile X Tremor/ataxia Syndrome 44
1798 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 43
1799 P PRR025 Perrault Syndrome 42
1800 c CFF010 Coffin-Siris Syndrome 3 42
1801 c CFF009 Coffin-Siris Syndrome 4 42
1802 c MNT242 Mental Retardation, Autosomal Dominant 40 42
1803 c MCR255 Microcephaly 9, Primary, Autosomal Recessive 41
1804 MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 41
1805 NSC005 Nescav Syndrome 40
1806 GLT019 Glut1 Deficiency Syndrome 2 39
1807 c 2HY001 2-Hydroxyglutaric Aciduria 38
1808 c ATS383 Autosomal Dominant Non-Syndromic Intellectual Disability 1 37
1809 c MNT240 Mental Retardation, Autosomal Dominant 33 37
1810 c FRN045 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 36
1811 PRK087 Parkinson-Dementia Syndrome 35
1812 c D2H003 D-2-Hydroxyglutaric Aciduria 2 35
1813 c PRR020 Perrault Syndrome 1 33
1814 MNT304 Mental Retardation, X-Linked, with or Without Seizures, Arx-Related 33
1815 INT373 Intellectual Developmental Disorder, Autosomal Dominant 44, with Microcephaly 33
1816 c ATS387 Autosomal Dominant Non-Syndromic Intellectual Disability 5 32
1817 SHH004 Shaheen Syndrome 30
1818 c PRR021 Perrault Syndrome 4 29
1819 c ATS417 Autosomal Dominant Non-Syndromic Intellectual Disability 19 29
1820 c SZR020 Seizures, Benign Familial Infantile, 5 28
1821 c FRN060 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 6 27
1822 c MNT216 Mental Retardation, Autosomal Recessive 41 26
1823 c CFF012 Coffin-Siris Syndrome 7 25
1824 c PRR022 Perrault Syndrome 2 25
1825 c SZR014 Seizures, Benign Familial Infantile, 1 25
1826 c SZR016 Seizures, Benign Familial Infantile, 2 25
1827 c PRR024 Perrault Syndrome 3 24
1828 c ATS389 Autosomal Dominant Non-Syndromic Intellectual Disability 8 24
1829 c MNT286 Mental Retardation, Autosomal Dominant 45 23
1830 c PRR026 Perrault Syndrome 5 22
1831 c MNT234 Mental Retardation, Autosomal Recessive 48 22
1832 c MNT191 Mental Retardation, X-Linked, Syndromic 17 22
1833 c CNG100 Congenital Herpes Simplex 22
1834 SSS001 Sessile Serrated Polyposis Cancer Syndrome 21
1835 c ATS386 Autosomal Dominant Non-Syndromic Intellectual Disability 4 20
1836 c PRR033 Perrault Syndrome 6 20
1837 c MNT333 Mental Retardation, X-Linked 107 18
1838 c MNT274 Mental Retardation, X-Linked 105 18
1839 c NNS082 Non-Syndromic X-Linked Intellectual Disability 9 17
1840 c NNS087 Non-Syndromic X-Linked Intellectual Disability 93 17
1841 c MNT172 Mental Retardation, Autosomal Recessive 25 16
1842 c MNT180 Mental Retardation, Autosomal Recessive 33 15
1843 c MNT162 Mental Retardation, Autosomal Recessive 24 15
1844 c MNT163 Mental Retardation, Autosomal Recessive 30 14
1845 c MNT161 Mental Retardation, Autosomal Recessive 29 14
1846 c MNT182 Mental Retardation, Autosomal Recessive 19 14
1847 c FRN062 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 5 12
1848 c MNT205 Mental Retardation, X-Linked 42 11
1849 c SZR011 Seizures, Benign Familial Infantile, 4 11
1850 SYN081 Syndromic X-Linked Intellectual Disability Abidi Type 9
1851 c ATS480 Autosomal Dominant Non-Syndromic Intellectual Disability 18 9
1852 c RRD051 Rare Dementia 9
1853 c SCN009 Scn1a-Related Seizure Disorders 8
1854 c ATS394 Autosomal Dominant Mental Retardation 55 5
1855 BRN028 Brain Cancer 74
1856 c HPT073 Hepatitis C Virus 71
1857 P HPT021 Hepatitis 69
1858 c HPT003 Hepatitis a 63
1859 c ATM011 Autoimmune Hepatitis 63
1860 c HPT001 Hepatitis C 62
1861 c HPT016 Hepatitis B 62
1862 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 62
1863 P STS008 Sotos Syndrome 1 60
1864 CHR081 Choroideremia 58
1865 P SCK004 Seckel Syndrome 58
1866 P NRC002 Narcolepsy 56
1867 P CNG010 Congenital Stationary Night Blindness 56
1868 c VRL010 Viral Hepatitis 53
1869 c HPT007 Hepatitis E 51
1870 ADR038 Adermatoglyphia 51
1871 P MNT135 Mental Retardation, X-Linked, Syndromic 13 49
1872 c PRK085 Parkinson Disease 1, Autosomal Dominant 49
1873 c HPT015 Hepatitis D 49
1874 SCH074 Schuurs-Hoeijmakers Syndrome 48
1875 c DYS191 Dystonia 1, Torsion, Autosomal Dominant 47
1876 P LSS036 Lissencephaly, X-Linked, 1 47
1877 PTT059 Pettigrew Syndrome 47
1878 KRT013 Keratolytic Winter Erythema 45
1879 P HYP111 Hyperprolinemia 45
1880 P MNT185 Mental Retardation, Autosomal Dominant 7 44
1881 MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 43
1882 c HYP597 Hyperprolinemia, Type Ii 43
1883 c BRD019 Bardet-Biedl Syndrome 7 43
1884 c HYP248 Hyperprolinemia, Type I 42
1885 KLN009 Kleine-Levin Hibernation Syndrome 41
1886 c SCK015 Seckel Syndrome 2 40
1887 MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 40
1888 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 40
1889 HYP187 Hypertryptophanemia 40
1890 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 39
1891 c SCK011 Seckel Syndrome 5 39
1892 ARB005 Arboleda-Tham Syndrome 38
1893 c STS007 Sotos Syndrome 2 37
1894 DYS140 Dyskinesia, Familial, with Facial Myokymia 37
1895 c SCK029 Seckel Syndrome 7 36
1896 c LSS037 Lissencephaly, X-Linked, 2 36
1897 c DYS067 Dystonia 6, Torsion 36
1898 c CFF011 Coffin-Siris Syndrome 6 35
1899 MTH026 Methemoglobinemia Due to Deficiency of Methemoglobin Reductase 35
1900 c DYS163 Dystonia 4, Torsion, Autosomal Dominant 35
1901 c MNT211 Mental Retardation, Autosomal Dominant 23 34
1902 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 33
1903 c ATM112 Autoimmune Hepatitis Type 1 32
1904 c MNT219 Mental Retardation, Autosomal Dominant 30 31
1905 P MNT305 Mental Retardation, X-Linked 12 31
1906 c MNT186 Mental Retardation, Autosomal Dominant 10 30
1907 c SCK033 Seckel Syndrome 8 30
1908 c SCK032 Seckel Syndrome 6 30
1909 c DYS063 Dystonia 2, Torsion, Autosomal Recessive 28
1910 URC006 Urocanase Deficiency 28
1911 c PRK081 Parkinson Disease 19a, Juvenile-Onset 27
1912 c MNT210 Mental Retardation, Autosomal Recessive 42 27
1913 c TRS025 Torsion Dystonia 2 27
1914 c PLY181 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 27
1915 c ATM111 Autoimmune Hepatitis Type 2 27
1916 P SYN078 Syndromic X-Linked Intellectual Disability Type 10 26
1917 c MNT280 Mental Retardation, Autosomal Dominant 43 26
1918 c DYS185 Dystonia 13, Torsion, Autosomal Dominant 24
1919 c MNT200 Mental Retardation, X-Linked 97 24
1920 c MNT184 Mental Retardation, Autosomal Dominant 11 24
1921 c MNT224 Mental Retardation, X-Linked 101 24
1922 c DYS068 Dystonia 7, Torsion 23
1923 c SCK037 Seckel Syndrome 9 23
1924 c MNT337 Mental Retardation, Autosomal Dominant 58 23
1925 c SCK038 Seckel Syndrome 10 23
1926 c MNT218 Mental Retardation, X-Linked 99 23
1927 c MNT326 Mental Retardation, Autosomal Dominant 50 22
1928 c MNT330 Mental Retardation, Autosomal Dominant 54 22
1929 c MNT338 Mental Retardation, Autosomal Recessive 65 22
1930 c SYN170 Syndromic X-Linked Intellectual Disability 94 21
1931 c MNT278 Mental Retardation, Autosomal Dominant 46 21
1932 c TRS027 Torsion Dystonia 4 19
1933 c MNT336 Mental Retardation, Autosomal Recessive 64 19
1934 c DYS184 Dystonia 17, Torsion, Autosomal Recessive 19
1935