Mental Diseases Category (1416 diseases)


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

# Family MCID Name MIFTS
1 P BPL003 Bipolar Disorder 60
2 P DMN033 Dementia, Frontotemporal 65
3 RNP001 Renpenning Syndrome 52
4 DMN031 Dementia, Lewy Body 59
5 c GRN014 Grn-Related Frontotemporal Dementia 34
6 DMN032 Dementia, Familial British 30
7 P MNT135 Mental Retardation, X-Linked, Syndromic 13 37
8 DMN004 Dementia, Familial Danish 34
9 AMY066 Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 46
10 DMN016 Dementia, Familial, Nonspecific 27
11 FRN030 Frontotemporal Dementia with Parkinsonism-17 22
12 FRN031 Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions 53
13 P ALZ034 Alzheimer Disease 76
14 c ALZ036 Alzheimer Disease, Type 3 51
15 c ALZ035 Alzheimer Disease-4 39
16 c ALZ032 Alzheimer Disease 18 33
17 c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 33
18 c ALZ046 Alzheimer's Disease 5 31
19 c ALZ047 Alzheimer's Disease 10 28
20 c ALZ015 Alzheimer Disease 6 28
21 c ALZ045 Alzheimer Disease 9 26
22 c ALZ016 Alzheimer Disease 8 25
23 c ALZ012 Alzheimer Disease 12 24
24 c ALZ048 Alzheimer's Disease 19 24
25 c ALZ002 Alzheimer Disease Type 1 24
26 c ALZ014 Alzheimer Disease 16 23
27 c ALZ031 Alzheimer Disease 17 22
28 c ALZ043 Alzheimer's Disease 15 20
29 c ALZ041 Alzheimer's Disease 13 20
30 c ALZ042 Alzheimer's Disease 14 20
31 c ALZ039 Alzheimer's Disease 7 20
32 c ALZ040 Alzheimer's Disease 11 19
33 c ALZ008 Alzheimer Disease Risk Factor 19
34 SMN008 Semantic Dementia 37
35 SCH022 Schimke X-Linked Mental Retardation Syndrome 14
36 VSC002 Vascular Dementia 52
37 P FRN044 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 43
38 ALP025 Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 8
39 MNT054 Mental Retardation, X-Linked, Snyder-Robinson Type 41
40 MNT231 Mental Retardation, X-Linked Syndromic, Nascimento-Type 27
41 MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 29
42 MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 28
43 BNS003 Binswanger's Disease 40
44 PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 19
45 CLB014 Coloboma, Cleft Lip/palate and Mental Retardation Syndrome 7
46 HYP229 Hypospadias Mental Retardation Goldblatt Type 6
47 PLG005 Plagiocephaly and X-Linked Mental Retardation 5
48 ULN006 Ulna Hypoplasia with Mental Retardation 4
49 PRN009 Paranoid Schizophrenia 46
50 MDD011 Mood Disorder 59
51 MNT297 Mental Retardation, X-Linked, Syndromic 11, Shashi Type 19
52 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 61
53 DSS008 Disease of Mental Health 53
54 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 46
55 P INF016 Infantile Epileptic Encephalopathy 44
56 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 44
57 KHL003 Kohlschutter-Tonz Syndrome 42
58 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 41
59 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 36
60 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 34
61 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 30
62 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 28
63 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 27
64 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 27
65 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 25
66 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 25
67 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 25
68 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 25
69 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 24
70 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 24
71 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 24
72 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 24
73 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 23
74 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 23
75 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 23
76 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 23
77 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 22
78 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 22
79 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 22
80 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 22
81 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 21
82 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21
83 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 21
84 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 21
85 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 21
86 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 20
87 RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 20
88 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 20
89 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 20
90 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 20
91 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 19
92 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 19
93 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 19
94 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 19
95 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 19
96 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 18
97 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 18
98 SPN350 Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration 18
99 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 17
100 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 17
101 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 17
102 HRD035 Hair Defect with Photosensitivity and Mental Retardation 17
103 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 17
104 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 16
105 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 16
106 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 16
107 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 16
108 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 15
109 SPS195 Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 14
110 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 13
111 RTN075 Retinopathy Pigmentary Mental Retardation 6
112 SCL026 Sclerosing Bone Dysplasia Mental Retardation 5
113 MNT068 Mental Retardation, X-Linked, Fraxe Type 22
114 CRB092 Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 3 20
115 DMN002 Dementia 52
116 TMP011 Temple-Baraitser Syndrome 31
117 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia 22
118 P SCH015 Schizophrenia 71
119 c ERL020 Early-Onset Schizophrenia 46
120 ADS004 Aids Dementia Complex 38
121 c SCH051 Schizophrenia 4 36
122 FLP001 Filippi Syndrome 29
123 c SCH073 Schizophrenia 9 25
124 c SCH059 Schizophrenia 17 25
125 c SCH056 Schizophrenia 15 25
126 c SCH064 Schizophrenia 10 24
127 c SCH061 Schizophrenia 16 18
128 c SCH075 Schizophrenia 19 18
129 CHR580 Choroid Plexus Calcification and Mental Retardation 16
130 SPS193 Spastic Paraplegia, Epilepsy, and Mental Retardation 14
131 ECT019 Ectodermal Dysplasia Mental Retardation Syndactyly 14
132 PRS056 Presenile Dementia, Kraepelin Type 7
133 MCR057 Microcephaly Seizures Mental Retardation Heart Disorders 5
134 PLY042 Polyneuropathy Mental Retardation Acromicria Premature Menopause 5
135 PTL006 Patella Hypoplasia Mental Retardation 3
136 c HYP553 Hyperphosphatasia with Mental Retardation Syndrome 3 19
137 c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 19
138 DMN012 Dementia - Subcortical 14
139 BRK009 Birk-Barel Mental Retardation Dysmorphism Syndrome 33
140 MNT053 Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 26
141 MNT139 Mental Retardation, X-Linked Syndromic, Turner Type 24
142 c MNT155 Mental Retardation, Autosomal Recessive 2 22
143 MNT119 Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency 21
144 MNT232 Mental Retardation, X-Linked Syndromic, Raymond Type 20
145 XLN134 X-Linked Intellectual Disability, Siderius Type 19
146 DRM023 Dermoodontodysplasia 19
147 STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 18
148 c MNT200 Mental Retardation, X-Linked 97 16
149 JVN053 Juvenile Amyotrophic Lateral Sclerosis with Dementia 9
150 MLS013 Miles-Carpenter Syndrome 31
151 SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 23
152 HLL013 Hall-Riggs Mental Retardation Syndrome 20
153 ARM006 Armfield X-Linked Mental Retardation Syndrome 19
154 MNT038 Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 19
155 MRF017 Marfanoid Mental Retardation Syndrome, Autosomal 18
156 FLL034 Fallot Complex with Severe Mental and Growth Retardation 16
157 SPS194 Spastic Paresis, Glaucoma, and Mental Retardation 14
158 CTR029 Cataracts, Ataxia, Short Stature, and Mental Retardation 13
159 SYN081 Syndromic X-Linked Intellectual Disability Abidi Type 9
160 MNT260 Mental Retardation, X-Linked, Syndromic, Wilson-Turner Type 9
161 XLN023 X-Linked Mental Retardation Craniofacial Abnormal Microcephaly Club 6
162 c SYN019 Syndactyly Type 1 with Cataracts and Mental Retardation 5
163 MCR032 Macrocephaly, Mental Retardation, Short Stature, Spastic Paraplegia and Cns Malformations 4
164 THM007 Thumb Stiff Brachydactyly Mental Retardation 4
165 MCR038 Macrogyria, Pseudobulbar Palsy and Mental Retardation 3
166 PSY004 Psychotic Disorder 67
167 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 32
168 PRN023 Prion Disease 46
169 c MNT207 Mental Retardation, X-Linked, Syndromic 32 25
170 ART103 Arthrogryposis, Mental Retardation, and Seizures 25
171 c MNT209 Mental Retardation, Autosomal Dominant, 27 23
172 c MNT150 Mental Retardation, Autosomal Recessive 15 23
173 c MNT169 Mental Retardation, Autosomal Recessive, 37 23
174 c MNT154 Mental Retardation, Autosomal Recessive 14 20
175 INC024 Inclusion Body Myopathy with Early-Onset Paget Disease Without Frontotemporal Dementia 3 19
176 DMN026 Dementia Pugilistica 19
177 c MNT151 Mental Retardation, Autosomal Recessive 18 19
178 ALP035 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 17
179 c MNT276 Mental Retardation, Autosomal Recessive, 52 16
180 AMY099 Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia 16
181 P PRS038 Personality Disorder 61
182 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 42
183 KFR001 Kufor-Rakeb Syndrome 42
184 CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 42
185 c MLT010 Multiple Personality Disorder 35
186 CRB096 Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants 32
187 GMS002 Gms Syndrome 25
188 ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 23
189 c MNT191 Mental Retardation, X-Linked, Syndromic 17 20
190 c MNT204 Mental Retardation, X-Linked 23 18
191 ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 18
192 MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 17
193 CRN268 Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis 17
194 LJN002 Lujan Syndrome 16
195 MNT030 Mental Retardation Syndrome, Belgian Type 15
196 ORG003 Organic Mood Syndrome 13
197 c MNT202 Mental Retardation, X-Linked 53 13
198 SLC019 Slc9a6-Related Syndromic Mental Retardation 11
199 CRN099 Craniosynostosis Mental Retardation Clefting Syndrome 11
200 CTS013 Cutis Verticis Gyrata Mental Deficiency 10
201 SPS050 Spasticity Mental Retardation 10
202 MCR098 Microcephaly, Cortical Malformations, and Mental Retardation 10
203 c C9R002 C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia 10
204 MNT060 Mental Retardation, X-Linked, with Short Stature, Small Testes, Muscle Wasting, and Tremor 10
205 c NLG002 Nlgn4x-Related X-Linked Mental Retardation 7
206 KCN019 Kcnk9 Imprinting Syndrome 7
207 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 7
208 c UBQ001 Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal Dementia 7
209 c VCP002 Vcp-Related Amyotrophic Lateral Sclerosis/frontotemporal Dementia 7
210 5Q2001 5q22 Deletion Syndrome 6
211 SHR018 Short Stature Mental Retardation Eye Anomalies 4
212 DBT014 Diabetes Hypogonadism Deafness Mental Retardation 3
213 SHR013 Short Stature Abnormal Skin Pigmentation Mental Retardation 3
214 CRN079 Craniodigital Syndrome Mental Retardation 3
215 CRN090 Craniostenosis with Congenital Heart Disease Mental Retardation 3
216 CRN100 Craniosynostosis Mental Retardation Heart Defects 3
217 MCR058 Microcephaly Sparse Hair Mental Retardation Seizures 3
218 CNG099 Congenital Heart Disease Radio Ulnar Synostosis Mental Retardation 3
219 PRT057 Proteus Like Syndrome Mental Retardation Eye Defect 3
220 PTR009 Pterygium Colli Mental Retardation Digital Anomalies 3
221 CRN059 Corneal Anesthesia Deafness Mental Retardation 3
222 LKM007 Leukomelanoderma Mental Redardation Hypotrichosis 3
223 HPT029 Hepatic Fibrosis Renal Cysts Mental Retardation 3
224 MYT010 Myotonia Mental Retardation Skeletal Anomalies 3
225 SHL003 Shoulder Girdle Defect Mental Retardation Familial 3
226 SCH026 Schizophrenia Mental Retardation Deafness Retinitis 3
227 CRY011 Cryptorchidism Arachnodactyly Mental Retardation 2
228 CRT031 Cortical Blindness Mental Retardation Polydactyly 2
229 CRN064 Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation 2
230 DNN004 Duane Anomaly Mental Retardation 2
231 DYS043 Dysmorphism Abnormal Vocalization Mental Retardation 2
232 LRY023 Laryngeal Abductor Paralysis Mental Retardation 2
233 MLT041 Multiple Congenital Anomalies Mental Retardation, Growth Failure and Cleft Lip Palate 2
234 EPL007 Epilepsy Mental Deterioration Finnish Type 2
235 GRW011 Growth Retardation Mental Retardation Phalangeal Hypoplasia 2
236 CLF010 Cleft Lip Palate Mental Retardation Corneal Opacity 2
237 OPT019 Opthalmoplegia Mental Retardation Lingua Scrotalis 2
238 HYP183 Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features 2
239 HYP201 Hypogonadism Mitral Valve Prolapse Mental Retardation 2
240 HYP217 Hypoparathyroidism Short Stature Mental Retardation 2
241 HYP233 Hypothyroidism Postaxial Polydactyly Mental Retardation 2
242 SZR004 Seizures Mental Retardation Hair Dysplasia 2
243 SPR026 Sparse Hair Ptosis Mental Retardation 2
244 P SYN015 Syndactyly Cataract Mental Retardation 2
245 STR027 Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 2
246 PRC022 Pericardium Absent Mental Retardation Short Stature 2
247 PTS005 Ptosis Coloboma Mental Retardation 2
248 VTL003 Vitiligo Mental Retardation Facial Dysmorphism Uremia 2
249 XLN024 X-Linked Mental Retardation De Silva Type 2
250 XLN026 X-Linked Mental Retardation Type Martinez 2
251 XLN027 X-Linked Mental Retardation Type Raynaud 2
252 XLN028 X-Linked Mental Retardation Type Schutz 2
253 c BPL002 Bipolar I Disorder 46
254 ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 41
255 c RBN021 Rubinstein-Taybi Syndrome 1 32
256 c RBN008 Rubinstein-Taybi Syndrome 2 28
257 P ATS049 Autism Susceptibility, X-Linked 2 28
258 c FRN043 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 28
259 FGS004 Fg Syndrome 4 27
260 c FRN040 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 26
261 P MNT158 Mental Retardation, Autosomal Dominant 22 26
262 c FRN045 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 25
263 PRN010 Paranoid Personality Disorder 24
264 AMY061 Amyotrophic Lateral Sclerosis 14, with or Without Frontotemporal Dementia 24
265 SCH074 Schuurs-Hoeijmakers Syndrome 24
266 c MNT157 Mental Retardation, Autosomal Dominant 18 23
267 c ATS044 Autism Susceptibility, X-Linked 3 22
268 c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 21
269 c ATS048 Autism Susceptibility, X-Linked 1 21
270 c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 18
271 c MNT273 Mental Retardation, Autosomal Dominant 44 17
272 HYP646 Hypomagnesemia, Seizures, and Mental Retardation 16
273 P RBN007 Rubinstein Taybi Like Syndrome 9
274 c EP3001 Ep300-Related Rubinstein-Taybi Syndrome 8
275 c CRB084 Crebbp-Related Rubinstein-Taybi Syndrome 7
276 c ATS043 Autism Susceptibility, X-Linked 4 5
277 P PRK057 Parkinson Disease, Late-Onset 68
278 CLF027 Cleft Palate, Isolated 52
279 c PRK031 Parkinson Disease 1 51
280 SMT006 Somatoform Disorder 51
281 c PRK024 Parkinson Disease, Juvenile, Type 2 48
282 c PRK027 Parkinson Disease 15, Autosomal Recessive 47
283 c PRK059 Parkinson Disease 8 42
284 c PRK020 Parkinson Disease 6, Early Onset 41
285 c PRK030 Parkinson Disease 4 41
286 c PRK025 Parkinson Disease 10 40
287 c PRK045 Parkinson Disease 5 37
288 c ERL047 Early-Onset Parkinson Disease 34
289 c PRK051 Parkinson Disease 18 32
290 c PRK026 Parkinson Disease 11 31
291 c PRK052 Parkinson Disease 17 30
292 JWD001 Jawad Syndrome 29
293 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 29
294 c PRK037 Parkinson Disease 13 28
295 AMY068 Amyotrophic Lateral Sclerosis 15, with or Without Frontotemporal Dementia 28
296 c PRK070 Parkinson Disease 21 27
297 c MNT185 Mental Retardation, Autosomal Dominant 7 27
298 c SNC002 Snca-Related Parkinson Disease 26
299 c PRK081 Parkinson Disease 19a, Juvenile-Onset 26
300 c PRK065 Parkinson Disease 20, Early-Onset 25
301 c MNT145 Mental Retardation, Autosomal Recessive 5 25
302 P MJR018 Major Affective Disorder-7 25
303 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 24
304 c PRK071 Parkinson Disease 14, Autosomal Recessive 24
305 OHD003 Ohdo Syndrome, X-Linked 24
306 c MNT242 Mental Retardation, Autosomal Dominant 40 24
307 c PRK022 Parkinson Disease 12 24
308 c MJR007 Major Affective Disorder 1 23
309 c HRD173 Hereditary Late-Onset Parkinson Disease 23
310 CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 23
311 c MNT226 Mental Retardation, Autosomal Dominant 31 23
312 c MNT246 Mental Retardation, Autosomal Dominant 38 23
313 c MNT241 Mental Retardation, Autosomal Dominant 32 23
314 c MNT212 Mental Retardation, Autosomal Dominant 26 23
315 c MNT176 Mental Retardation, Autosomal Recessive 38 22
316 c PRK007 Parkinson Disease Type 3 22
317 c MNT213 Mental Retardation, Autosomal Recessive 40 22
318 c MNT159 Mental Retardation, Autosomal Dominant 19 22
319 c MNT222 Mental Retardation, Autosomal Dominant 29 22
320 c MNT166 Mental Retardation, Autosomal Recessive 39 21
321 c MNT216 Mental Retardation, Autosomal Recessive 41 21
322 c MNT214 Mental Retardation, Autosomal Dominant 24 21
323 c MNT227 Mental Retardation, Autosomal Recessive 46 21
324 c PRK079 Parkinson Disease 23, Autosomal Recessive, Early Onset 21
325 c MNT177 Mental Retardation, Autosomal Recessive 27 21
326 P HYP440 Hyperphosphatasia with Mental Retardation Syndrome 21
327 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 21
328 c MNT211 Mental Retardation, Autosomal Dominant 23 21
329 c MNT179 Mental Retardation, Autosomal Dominant 21 20
330 INC015 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 20
331 c MNT221 Mental Retardation, Autosomal Recessive 44 20
332 c MNT239 Mental Retardation, Autosomal Dominant 35 20
333 c MNT234 Mental Retardation, Autosomal Recessive 48 20
334 TKN001 Takenouchi-Kosaki Syndrome 20
335 c MJR008 Major Affective Disorder 2 20
336 c PRK058 Parkinson Disease 16 20
337 c MNT238 Mental Retardation, Autosomal Dominant 34 20
338 c MNT245 Mental Retardation, Autosomal Dominant 36 20
339 c MNT219 Mental Retardation, Autosomal Dominant 30 20
340 c MNT280 Mental Retardation, Autosomal Dominant 43 20
341 c MNT285 Mental Retardation, Autosomal Recessive 58 19
342 c MNT195 Mental Retardation, X-Linked 96 19
343 CLF050 Cleft Palate, Cardiac Defects, and Mental Retardation 19
344 XGB001 Xia-Gibbs Syndrome 19
345 c MNT236 Mental Retardation, Autosomal Dominant 39 18
346 c MNT168 Mental Retardation, Autosomal Dominant 8 18
347 c MNT244 Mental Retardation, Autosomal Recessive 49 18
348 c MNT225 Mental Retardation, Autosomal Recessive 47 18
349 c MNT197 Mental Retardation, X-Linked, Syndromic 9 18
350 c MJR006 Major Affective Disorder 5 18
351 c MNT220 Mental Retardation, Autosomal Recessive 45 18
352 CRB158 Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 18
353 c MNT240 Mental Retardation, Autosomal Dominant 33 18
354 c MNT215 Mental Retardation, Autosomal Recessive 43 18
355 c LRR001 Lrrk2-Related Parkinson Disease 17
356 MNT118 Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 17
357 c PL2003 Pla2g6-Related Parkinson Disease 17
358 c MNT287 Mental Retardation, Autosomal Recessive 57 17
359 c MNT186 Mental Retardation, Autosomal Dominant 10 17
360 c MNT243 Mental Retardation, Autosomal Recessive 50 17
361 c MNT282 Mental Retardation, Autosomal Recessive 55 17
362 c MJR003 Major Affective Disorder 6 16
363 c JVN052 Juvenile-Onset Parkinson Disease 16
364 c MNT184 Mental Retardation, Autosomal Dominant 11 16
365 c MNT263 Mental Retardation, Autosomal Recessive 51 16
366 c MNT272 Mental Retardation, Autosomal Dominant 41 16
367 c MNT284 Mental Retardation, Autosomal Recessive 56 15
368 c MNT277 Mental Retardation, Autosomal Recessive 54 15
369 c MNT281 Mental Retardation, Autosomal Recessive 59 15
370 c PRK083 Parkinson Disease 22, Autosomal Dominant 13
371 c VPS003 Vps35-Related Parkinson Disease 13
372 c FBX001 Fbxo7-Related Parkinson Disease 12
373 MNT107 Mental Retardation, Fra12a Type 12
374 c EF4001 Eif4g1-Related Parkinson Disease 10
375 c GGY001 Gigyf2-Related Parkinson Disease 10
376 c HTR006 Htra2-Related Parkinson Disease 10
377 P ALP076 Alopecia-Mental Retardation Syndrome 1 9
378 c SYN072 Synj1-Related Parkinson Disease 9
379 c DNJ003 Dnajc6-Related Parkinson Disease 8
380 c PRK015 Park7-Related Parkinson Disease 8
381 SBN004 Sabinas Brittle Hair Syndrome 5
382 c BPL001 Bipolar Ll Disorder 5
383 P CTS001 Cutis Laxa 60
384 MNT002 Mental Depression 52
385 c AMY090 Amyotrophic Lateral Sclerosis 8 42
386 c AMY067 Amyotrophic Lateral Sclerosis 18 42
387 c AMY085 Amyotrophic Lateral Sclerosis 9 42
388 BHV002 Behavioral Variant of Frontotemporal Dementia 41
389 c AMY069 Amyotrophic Lateral Sclerosis 21 41
390 c AMY083 Amyotrophic Lateral Sclerosis 11 38
391 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 38
392 c CTS008 Cutis Laxa, Autosomal Dominant 37
393 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 37
394 c AMY059 Amyotrophic Lateral Sclerosis 19 37
395 c AMY088 Amyotrophic Lateral Sclerosis 3 36
396 OHD004 Ohdo Syndrome 36
397 c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 35
398 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 35
399 c AMY062 Amyotrophic Lateral Sclerosis 12 34
400 c CTS034 Cutis Laxa, Autosomal Recessive Type 1 33
401 c AMY089 Amyotrophic Lateral Sclerosis 7 33
402 CKS001 Ck Syndrome 32
403 DRG004 Drug-Induced Mental Disorder 32
404 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 31
405 c AMY063 Amyotrophic Lateral Sclerosis 20 31
406 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 31
407 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30
408 c AMY055 Amyotrophic Lateral Sclerosis 17 30
409 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 29
410 ALC013 Alcohol-Induced Mental Disorder 28
411 c AMY022 Amyotrophic Lateral Sclerosis Type 5 28
412 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 28
413 c ACQ027 Acquired Cutis Laxa 26
414 AMY040 Amyotrophic Lateral Sclerosis 10, with or Without Ftd 26
415 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
416 c MJR004 Major Affective Disorder 4 26
417 c AMY074 Amyotrophic Lateral Sclerosis Type 14 25
418 HLS003 Helsmoortel-Van Der Aa Syndrome 25
419 c CTS041 Cutis Laxa, Autosomal Dominant 3 24
420 MGL033 Megalocornea-Mental Retardation Syndrome 24
421 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 24
422 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 23
423 c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 23
424 MNT014 Mental Retardation Epilepsy 22
425 NNS032 Non-Syndromic X-Linked Intellectual Disability 22
426 WLF012 Wolff Mental Retardation Syndrome 22
427 c CTS031 Cutis Laxa, Autosomal Dominant 2 22
428 c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 22
429 c CFF006 Coffin-Siris Syndrome 5 21
430 2Q3002 2q37 Microdeletion Syndrome 20
431 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 20
432 c MNT194 Mental Retardation, X-Linked 50 20
433 MNT257 Mental Retardation, X-Linked, with Craniofacial Dysmorphism 19
434 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 19
435 c MCR272 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 19
436 c ATP003 Atp6v0a2-Related Cutis Laxa 19
437 SPN368 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 19
438 MNT256 Mental Retardation, Buenos Aires Type 19
439 c MNT181 Mental Retardation, Autosomal Recessive 35 19
440 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 18
441 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 18
442 CHR321 Chorea and Dementia 18
443 MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 18
444 HYP688 Hypospadias-Mental Retardation Syndrome 18
445 PRT055 Prieto X-Linked Mental Retardation Syndrome 17
446 MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 17
447 ARL006 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 17
448 BLP044 Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 17
449 c EFM001 Efemp2-Related Cutis Laxa 16
450 CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 16
451 DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 16
452 LMB066 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 16
453 MNT255 Mental Retardation and Psoriasis 16
454 MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 16
455 c MNT205 Mental Retardation, X-Linked 42 15
456 ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 15
457 c MNT163 Mental Retardation, Autosomal Recessive 30 15
458 c ALD008 Aldh18a1-Related Cutis Laxa 15
459 c MNT298 Mental Retardation, X-Linked, Syndromic, 35 15
460 c MNT279 Mental Retardation, Autosomal Dominant 47 14
461 PTR031 Pterygium Colli and Mental Retardation with Facial and Digital Anomalies 14
462 ART029 Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 14
463 ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 14
464 c MNT160 Mental Retardation, Autosomal Recessive 31 14
465 c MNT286 Mental Retardation, Autosomal Dominant 45 14
466 c MNT172 Mental Retardation, Autosomal Recessive 25 14
467 c MNT182 Mental Retardation, Autosomal Recessive 19 14
468 c SD1001 Sod1-Related Amyotrophic Lateral Sclerosis 14
469 c MNT278 Mental Retardation, Autosomal Dominant 46 14
470 c MNT170 Mental Retardation, Autosomal Recessive 23 14
471 c MNT165 Mental Retardation, Autosomal Recessive 28 14
472 c MNT161 Mental Retardation, Autosomal Recessive 29 13
473 c MNT167 Mental Retardation, Autosomal Recessive 16 13
474 c MNT180 Mental Retardation, Autosomal Recessive 33 13
475 c MNT162 Mental Retardation, Autosomal Recessive 24 13
476 SPN347 Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 13
477 c VPB001 Vapb-Related Amyotrophic Lateral Sclerosis 13
478 c MNT247 Mental Retardation, X-Linked 73 13
479 ABD008 Abidi X-Linked Mental Retardation Syndrome 13
480 OPH013 Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency 13
481 c MNT294 Mental Retardation, X-Linked 106 13
482 c SPG004 Spg11-Related Amyotrophic Lateral Sclerosis 13
483 c LTB003 Ltbp4-Related Cutis Laxa 12
484 MNT250 Mental Retardation with Spastic Paraplegia 12
485 ULN022 Ulnar Hypoplasia with Mental Retardation 12
486 SLC018 Slc6a8-Related Creatine Transporter Deficiency 12
487 c TRD001 Tardbp-Related Amyotrophic Lateral Sclerosis 12
488 SYB002 Say-Barber-Biesecker Variant of Ohdo Syndrome 11
489 c STX001 Setx-Related Amyotrophic Lateral Sclerosis 11
490 c PYC002 Pycr1-Related Cutis Laxa 11
491 c OPT036 Optn-Related Amyotrophic Lateral Sclerosis 10
492 c PFN001 Pfn1-Related Amyotrophic Lateral Sclerosis 10
493 c ATS028 Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis 10
494 c FG4001 Fig4-Related Amyotrophic Lateral Sclerosis 10
495 c FSR003 Fus-Related Amyotrophic Lateral Sclerosis 10
496 c HNR002 Hnrnpa1-Related Amyotrophic Lateral Sclerosis 10
497 c SQS001 Sqstm1-Related Amyotrophic Lateral Sclerosis 10
498 ICH057 Ichthyosis, Spastic Qudraplegia and Mental Retardation 10
499 c ARD003 Arid1b-Related Coffin-Siris Syndrome 9
500 SPN344 Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 9
501 c ERB003 Erbb4-Related Amyotrophic Lateral Sclerosis 9
502 c SGM009 Sigmar1-Related Amyotrophic Lateral Sclerosis 9
503 c FBL003 Fbln5-Related Cutis Laxa 9
504 c ARD002 Arid1a-Related Coffin-Siris Syndrome 9
505 c ALP075 Alopecia-Mental Retardation Syndrome 2 9
506 MNT033 Mental Retardation X-Linked Dysmorphism 9
507 c ALP063 Alopecia-Mental Retardation Syndrome 3 8
508 c ANG036 Ang-Related Amyotrophic Lateral Sclerosis 8
509 OHD001 Ohdo Syndrome, Maat-Kievit-Brunner Type 8
510 c TRD005 Tardbp-Related Frontotemporal Dementia 8
511 MPT001 Mapt-Related Disorders 8
512 c ANX009 Anxa11-Related Amyotrophic Lateral Sclerosis 7
513 c ELN002 Eln-Related Cutis Laxa 7
514 MNT069 Mental Retardation with Language Impairment and Autistic Features 7
515 c FGD001 Fgd1-Related X-Linked Mental Retardation 7
516 c SYP006 Syp-Related X-Linked Mental Retardation 7
517 c ZNF002 Znf674-Related X-Linked Mental Retardation 7
518 MNT059 Mental Retardation, X-Linked, with Growth Hormone Deficiency 6
519 c SMR003 Smarca4-Related Coffin-Siris Syndrome 6
520 c SMR004 Smarcb1-Related Coffin-Siris Syndrome 6
521 c SMR005 Smarce1-Related Coffin-Siris Syndrome 6
522 AMY097 Amyotrohpic Lateral Sclerosis Type 22 6
523 c MCR282 Microcephaly and Chorioretinopathy 1 6
524 c MCR283 Microcephaly and Chorioretinopathy 2 6
525 c MCR284 Microcephaly and Chorioretinopathy 3 6
526 MNT261 Mental Retsrdation, X-Linked Syndromic, Female Restricted 5
527 PRK068 Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments 5
528 MNT039 Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 5
529 PRK050 Parkinsonism with Dementia of Guadeloupe 4
530 CNG488 Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B 6 4
531 c MCR048 Microcephaly Chorioretinopathy Recessive Form 4
532 c MCR059 Microcephaly with Chorioretinopathy, Autosomal Dominant Form 4
533 P CHR168 Chorioretinopathy Dominant Form Microcephaly 4
534 MNT013 Mental Retardation Dysmorphism Hypogonadism Diabetes 3
535 MNT037 Mental Retardation X-Linked, South African Type 3
536 NNP015 Nonprogressive Cerebellar Atxia with Mental Retardation 3
537 DMN010 Dementia with Epilepsy, Mapt-Related 2
538 MNT008 Mental Retardation Anophthalmia Craniosynostosis 2
539 MNT011 Mental Retardation Cataracts Calcified Pinnae Myopathy 2
540 MNT017 Mental Retardation Hip Luxation G6pd Variant 2
541 MNT018 Mental Retardation Hypocupremia Hypobetalipoproteinemia 2
542 MNT020 Mental Retardation Macrocephaly Coarse Facies Hypotonia 2
543 MNT021 Mental Retardation Microcephaly Phalangeal Facial 2
544 MNT022 Mental Retardation Microcephaly Unusual Facies 2
545 MNT044 Mental Retardation-Polydactyly-Uncombable Hair 2
546 ANX002 Anxiety Disorder 66
547 ATT013 Attention Deficit-Hyperactivity Disorder 66
548 OBS061 Obstructive Sleep Apnea 65
549 ATS001 Autistic Disorder 63
550 P SLP006 Sleep Apnea 60
551 P PNC025 Panic Disorder 58
552 P ALC004 Alcohol Abuse 57
553 ETN001 Eating Disorder 56
554 APH002 Aphasia 55
555 SLP005 Sleep Disorder 54
556 CND002 Conduct Disorder 53
557 SBS003 Substance Abuse 52
558 ART002 Arts Syndrome 52
559 TCD001 Tic Disorder 50
560 PRV006 Pervasive Developmental Disorder 50
561 OPT003 Opiate Dependence 49
562 GNR004 Generalized Anxiety Disorder 49
563 IMP005 Impotence 49
564 SBS004 Substance Dependence 49
565 END040 Endogenous Depression 48
566 DRG003 Drug Dependence 48
567 PTH002 Pathological Gambling 48
568 PST021 Postpartum Depression 48
569 MJR011 Major Depressive Disorder and Accelerated Response to Antidepressant Drug Treatment 48
570 SCH012 Schizoaffective Disorder 48
571 CCN001 Cocaine Dependence 48
572 CCN002 Cocaine Abuse 47
573 ANT011 Antisocial Personality Disorder 47
574 LRN003 Learning Disability 46
575 SCL003 Social Phobia 46
576 BRD004 Borderline Personality Disorder 45
577 PRM003 Premature Ejaculation 44
578 OPP004 Oppositional Defiant Disorder 43
579 AGR002 Agoraphobia 43
580 CHR056 Chronic Tic Disorder 43
581 AMN003 Amnestic Disorder 43
582 c CNT015 Central Sleep Apnea 43
583 SXL003 Sexual Disorder 42
584 GND002 Gender Identity Disorder 42
585 SPC010 Speech and Communication Disorders 42
586 NCT008 Nicotine Dependence, Protection Against 42
587 MRP001 Morphine Dependence 42
588 FCT008 Factitious Disorder 41
589 SPC005 Speech Disorder 41
590 DRG001 Drug Psychosis 41
591 MTS001 Mutism 41
592 P HYP263 Hypersomnia 40
593 TRN007 Transsexualism 40
594 SCH003 Schizophreniform Disorder 40
595 CNN002 Cannabis Abuse 40
596 RMS001 Rem Sleep Behavior Disorder 40
597 WTH001 Withdrawal Disorder 40
598 HRN003 Heroin Dependence 39
599 DLS001 Delusional Disorder 39
600 SMT001 Somatization Disorder 39
601 ALX001 Alexia 39
602 DYS009 Dysthymic Disorder 39
603 PRD002 Periodic Limb Movement Disorder 39
604 OPD001 Opioid Abuse 39
605 PNG002 Pain Agnosia 39
606 IMP006 Impulse Control Disorder 39
607 AVD001 Avoidant Personality Disorder 39
608 PHB001 Phobic Disorder 38
609 ADJ001 Adjustment Disorder 38
610 SPC003 Specific Developmental Disorder 38
611 INT025 Intermittent Explosive Disorder 38
612 BDY001 Body Dysmorphic Disorder 38
613 KLP001 Kleptomania 37
614 CNN001 Cannabis Dependence 37
615 RTR001 Retrograde Amnesia 37
616 OBS003 Obsessive-Compulsive Personality Disorder 37
617 ALX002 Alexithymia 37
618 STR015 Stereotypic Movement Disorder 36
619 AMP007 Amphetamine Abuse 36
620 P DYS005 Dyslexia 36
621 GTP001 Gait Apraxia 36
622 HYP030 Hypoactive Sexual Desire Disorder 36
623 IDM001 Ideomotor Apraxia 36
624 RDN001 Reading Disorder 36
625 AGR018 Agraphia 35
626 MLN003 Melancholia 35
627 ALC003 Alcoholic Psychosis 35
628 ATY001 Atypical Depressive Disorder 34
629 NNT008 Neonatal Abstinence Syndrome 34
630 SPR012 Separation Anxiety Disorder 34
631 ACT084 Acute Stress Disorder 33
632 DPN001 Dependent Personality Disorder 33
633 NMN001 Nominal Aphasia 33
634 DSS010 Dissociative Disorder 32
635 SCH011 Schizotypal Personality Disorder 32
636 DVL001 Developmental Coordination Disorder 32
637 PRS013 Prosopagnosia 32
638 PHB003 Phobia, Specific 31
639 c RCR002 Recurrent Hypersomnia 31
640 ALC001 Alcohol-Related Birth Defect 30
641 PSY003 Psychosexual Disorder 30
642 PDP001 Pedophilia 30
643 EXH001 Exhibitionism 30
644 ECH002 Echolalia 30
645 SYN057 Syndromic Intellectual Disability 29
646 ART014 Articulation Disorder 29
647 WRT002 Writing Disorder 29
648 EXP001 Expressive Language Disorder 28
649 ATY003 Atypical Autism 28
650 TRN006 Transvestism 28
651 NRC003 Narcissistic Personality Disorder 28
652 DYS003 Dysgraphia 28
653 NSP004 Nosophobia 27
654 ANT019 Anterograde Amnesia 27
655 SBS005 Substance-Induced Psychosis 27
656 DYS004 Dyscalculia 27
657 DSS002 Dissociative Amnesia 27
658 P SPC019 Specific Language Impairment 27
659 P SYN064 Syndromic X-Linked Intellectual Disability 26
660 SCH004 Schizoid Personality Disorder 25
661 CYC005 Cyclothymic Disorder 25
662 HLL005 Hallucinogen Dependence 25
663 FTS001 Fetishism 25
664 HST001 Histrionic Personality Disorder 24
665 c DYS120 Dyslexia 2 24
666 NNS031 Non-Syndromic Intellectual Disability 24
667 ANS006 Anosognosia 24
668 c SYN078 Syndromic X-Linked Intellectual Disability Type 10 24
669 PCD001 Pica Disease 23
670 c DYS121 Dyslexia 1 23
671 c ALC016 Alcohol Sensitivity, Acute 23
672 AMS001 Amusia 22
673 PRP015 Paraphilia Disorder 22
674 PHN001 Phencyclidine Abuse 22
675 VYR001 Voyeurism 21
676 CPG001 Capgras Syndrome 21
677 ADT001 Auditory Agnosia 19
678 c FRM002 Form Agnosia 18
679 ANM002 Animal Phobia 18
680 SBC016 Subacute Delirium 18
681 c SPC023 Specific Language Impairment 5 17
682 ASS001 Associative Agnosia 17
683 SXL001 Sexual Sadism 17
684 PHN002 Phonagnosia 17
685 c SYN056 Syndromic X-Linked Intellectual Disability 7 17
686 FLY001 Flying Phobia 16
687 BRB002 Barbiturate Dependence 16
688 FNG001 Finger Agnosia 16
689 c PNC068 Panic Disorder 3 14
690 APP006 Apperceptive Agnosia 14
691 c PNC070 Panic Disorder 2 14
692 VRB001 Verbal Auditory Agnosia 14
693 ADS003 Aids Phobia 14
694 PSY002 Psychologic Dyspareunia 14
695 PYR003 Pyromania 14
696 c DYS125 Dyslexia 8 13
697 TRN005 Transient Tic Disorder 13
698 HLL002 Hallucinogen Abuse 13
699 c SYN082 Syndromic X-Linked Intellectual Disability 14 13
700 TCT002 Tactile Agnosia 12
701 c DYS122 Dyslexia 3 12
702 PSY001 Psychologic Vaginismus 12
703 SYN079 Syndromic X-Linked Intellectual Disability Siderius Type 12
704 SXL002 Sexual Masochism 11
705 c DYS123 Dyslexia 5 11
706 BRB003 Barbiturate Abuse 11
707 c DYS126 Dyslexia 9 11
708 ATT001 Autotopagnosia 11
709 c SPC015 Specific Language Impairment 4 10
710 BST003 Bestiality 10
711 c DYS124 Dyslexia 6 9
712 AKN001 Akinetopsia 9
713 INT031 Integrative Agnosia 9
714 ANT016 Antidepressant Type Abuse 9
715 TMG001 Time Agnosia 8
716 AST004 Astereognosia 8
717 MRR002 Mirror Agnosia 7
718 c SYN077 Syndromic X-Linked Intellectual Disability 12 7
719 MXD002 Mixed Receptive-Expressive Language Disorder 7
720 TPG001 Topographical Agnosia 6
721 EGD001 Ego-Dystonic Sexual Orientation 6
722 SCL006 Social Emotional Agnosia 5
723 SMN003 Semantic Agnosia 4
724 CLR009 Color Agnosia 3
725 c MNT109 Mental Retardation, X-Linked, Syndromic 15 36
726 WSM002 Waisman Syndrome 31
727 MNT189 Mental Retardation, X-Linked 29 and Others 23
728 MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 37
729 CRB106 Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 43
730 c MNT230 Mental Retardation, X-Linked Syndromic 5 42
731 WCK001 Wieacker-Wolff Syndrome 36
732 MSS001 Masa Syndrome 53
733 c XLN042 X-Linked Mental Retardation 21 21
734 P NRP041 Neuropathy, Hereditary Sensory, Type Ie 38
735 c SNS009 Sensory Neuropathy Type 1 30
736 ALP095 Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 28
737 c NRP036 Neuropathy, Hereditary Sensory, Type if 26
738 c NRP039 Neuropathy, Hereditary Sensory, Type Id 23
739 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 17
740 P MWT001 Mowat-Wilson Syndrome 48
741 MNT208 Mental Retardation, X-Linked Syndromic, Lubs Type 41
742 c MWT002 Mowat-Wilson Syndrome Due to Monosomy 2q22 8
743 c MWT004 Mowat-Wilson Syndrome Due to a Zeb2 Point Mutation 7
744 CRP019 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia 26
745 PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 17
746 MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 44
747 WGR001 Wagr Syndrome 53
748 c MNT292 Mental Retardation, X-Linked 1/78 19
749 WDH003 Woodhouse-Sakati Syndrome 47
750 c MNT203 Mental Retardation, X-Linked 30/47 20
751 c MNT288 Mental Retardation, X-Linked 49/15 19
752 P CRB171 Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1 61
753 c CRB170 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 22
754 MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 20
755 GRS011 Gerstmann-Straussler Disease 44
756 BRJ001 Borjeson-Forssman-Lehmann Syndrome 54
757 ALP014 Alpha-Thalassemia/mental Retardation Syndrome 52
758 RLN002 Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia 25
759 c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 25
760 c MNT249 Mental Retardation, X-Linked 12/35 22
761 c MNT196 Mental Retardation, X-Linked 92 20
762 P MNT291 Mental Retardation, X-Linked 9/44 18
763 c HRD010 Hereditary Spastic Paraplegia 66
764 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 49
765 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 42
766 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 40
767 GLL028 Gillespie Syndrome 39
768 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 38
769 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 38
770 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 37
771 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 37
772 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 37
773 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 36
774 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 36
775 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 36
776 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 36
777 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 35
778 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 34
779 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 34
780 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
781 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 34
782 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 34
783 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 34
784 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 33
785 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 33
786 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 32
787 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 32
788 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 32
789 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 32
790 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 32
791 c HRD185 Hereditary Spastic Paraplegia 3a 31
792 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 31
793 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 31
794 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 30
795 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 30
796 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
797 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 29
798 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 29
799 P SPS012 Spastic Paraplegia 3a 29
800 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 29
801 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 28
802 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 28
803 c SPS031 Spastic Paraplegia 23 27
804 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 27
805 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 26
806 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 26
807 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 26
808 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 26
809 c SPS036 Spastic Paraplegia 3 26
810 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 25
811 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 25
812 c SPS013 Spastic Paraplegia 8 25
813 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 25
814 c SPS021 Spastic Paraplegia 10 25
815 c SPS121 Spastic Paraplegia 3a, Autosomal Dominant 25
816 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 24
817 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 24
818 c SPS200 Spastic Paraplegia 62 24
819 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 24
820 c HRD186 Hereditary Spastic Paraplegia 51 24
821 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 24
822 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 24
823 c SPS025 Spastic Paraplegia 15 24
824 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 24
825 c SPS041 Spastic Paraplegia 6 24
826 c SPS135 Spastic Paraplegia 63 24
827 c SPS091 Spastic Paraplegia 4 23
828 c SPS020 Spastic Paraplegia 1 23
829 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 23
830 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 23
831 c SPS039 Spastic Paraplegia 5a 22
832 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 22
833 c SPS027 Spastic Paraplegia 17 22
834 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 22
835 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 20
836 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 20
837 c SPS028 Spastic Paraplegia 18 20
838 c SPS034 Spastic Paraplegia 26 20
839 c SPS042 Spastic Paraplegia 9 20
840 RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 20
841 c SPS023 Spastic Paraplegia 13 19
842 c SPS054 Spastic Paraplegia 35 19
843 c SPS022 Spastic Paraplegia 12 19
844 c SPS033 Spastic Paraplegia 25 18
845 DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 17
846 c SPS037 Spastic Paraplegia 31 16
847 c SPS175 Spastic Paraplegia 49 16
848 c SPS064 Spastic Paraplegia 45 16
849 c SPS024 Spastic Paraplegia 14 16
850 c SPS038 Spastic Paraplegia 39 16
851 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 16
852 c SPS173 Spastic Paraplegia 43 15
853 c SPS035 Spastic Paraplegia 29 15
854 c SPS080 Spastic Paraplegia 51 15
855 c SPS174 Spastic Paraplegia 46 15
856 c SPS026 Spastic Paraplegia 16 14
857 c SPS161 Spastic Paraplegia 32 14
858 c SPS052 Spastic Paraplegia 30 14
859 c SPS165 Spastic Paraplegia 47 14
860 c SPS181 Spastic Paraplegia 72 14
861 c SPS056 Spastic Paraplegia 44 14
862 c HRD187 Hereditary Spastic Paraplegia 62 13
863 c HRD188 Hereditary Spastic Paraplegia 72 13
864 c SPS053 Spastic Paraplegia 33 13
865 c SPS177 Spastic Paraplegia 54 13
866 c SPS179 Spastic Paraplegia 57 13
867 c SPS180 Spastic Paraplegia 61 13
868 c SPS029 Spastic Paraplegia 19 13
869 c SPS166 Spastic Paraplegia 50 13
870 c SPS032 Spastic Paraplegia 24 13
871 c SPS164 Spastic Paraplegia 28 12
872 c SPS055 Spastic Paraplegia 42 12
873 c SPS167 Spastic Paraplegia 52 12
874 c SPS178 Spastic Paraplegia 55 12
875 c SPS168 Spastic Paraplegia 56 12
876 c SPS076 Spastic Paraplegia 48 11
877 c SPS140 Spastic Paraplegia 64 11
878 c SPS182 Spastic Paraplegia 75 11
879 c SPS201 Spastic Paraplegia 76 11
880 c SPS199 Spastic Paraplegia 59 11
881 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 10
882 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 10
883 c ATS186 Autosomal Recessive Spastic Paraplegia Type 68 10
884 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 10
885 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 10
886 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 10
887 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 10
888 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 10
889 c SPS176 Spastic Paraplegia 53 10
890 c SPS169 Spastic Paraplegia 66 10
891 c SPS040 Spastic Paraplegia 5b 10
892 P RTT002 Rett Syndrome 82
893 EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 34
894 c MNT198 Mental Retardation, X-Linked 98 29
895 c RTT008 Rett Syndrome, Congenital Variant 28
896 MNT112 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis 27
897 c MNT143 Mental Retardation, Autosomal Dominant 13 25
898 c MNT296 Mental Retardation, X-Linked, Syndromic 34 22
899 P CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 22
900 CRT072 Creutzfeldt-Jakob Disease 62
901 c BRT038 Baraitser-Winter Syndrome 1 32
902 c BRT039 Baraitser-Winter Syndrome 2 24
903 HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 20
904 EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 17
905 MNT254 Mental Retardation Syndrome, Mietens-Weber Type 17
906 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 15
907 SCT004 Scott Bryant Graham Syndrome 14
908 PCD002 Pcdh19-Related Female-Limited Epilepsy 12
909 MNT029 Mental Retardation Spasticity Ectrodactyly 5
910 ICH006 Ichthyosis Alopecia Eclabion Ectropion Mental Retardation 5
911 MYH012 Myhre Syndrome 39
912 c HYP441 Hyperphosphatasia with Mental Retardation Syndrome 1 29
913 MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 27
914 c MNT295 Mental Retardation, X-Linked, Syndromic 33 24
915 CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 23
916 LJN003 Lujan-Fryns Syndrome 34
917 P SPN202 Spinocerebellar Ataxia, X-Linked 1 30
918 c SPN364 Spinocerebellar Ataxia, X-Linked 3 23
919 MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 22
920 c SPN203 Spinocerebellar Ataxia, X-Linked 5 17
921 c MNT293 Mental Retardation 105 16
922 c SPN363 Spinocerebellar Ataxia, X-Linked 4 16
923 c SPN114 Spinocerebellar Ataxia X-Linked Type 2 11
924 DNT016 Dentatorubro-Pallidoluysian Atrophy 44
925 OLV002 Oliver Syndrome 43
926 P FNG006 Feingold Syndrome 1 40
927 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 38
928 MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 32
929 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 32
930 HMM004 Hamamy Syndrome 25
931 c FNG009 Feingold Syndrome 2 23
932 KHR001 Kahrizi Syndrome 22
933 ALP094 Alpha Thalassemia-Intellectual Disability Syndrome Type 1 22
934 ALP067 Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome 17
935 HYD014 Hyde Forster Mccarthy Berry Syndrome 10
936 AKS001 Akesson Syndrome 10
937 STC008 Stocco Dos Santos Syndrome 10
938 DNM002 Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy 9
939 HYD054 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 9
940 TRN026 Tranebjaerg Svejgaard Syndrome 7
941 ALD006 Aldred Syndrome 5
942 ALX003 Alexander Disease 65
943 P MCR010 Microcephaly 58
944 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 53
945 c ATS275 Autosomal Recessive Primary Microcephaly 46
946 NCL006 Nicolaides-Baraitser Syndrome 40
947 c PRM212 Primary Microcephaly 39
948 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 38
949 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 37
950 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 33
951 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 33
952 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 33
953 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 32
954 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 32
955 TMT002 Temtamy Preaxial Brachydactyly Syndrome 30
956 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 30
957 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 30
958 P MSC002 Muscular Dystrophy-Dystroglycanopathy 29
959 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 29
960 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 29
961 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 29
962 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 29
963 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 28
964 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 28
965 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 28
966 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 27
967 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 27
968 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 26
969 c ATS004 Autosomal Dominant Microcephaly 26
970 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 26
971 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 26
972 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 25
973 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 25
974 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 24
975 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 24
976 HSD004 Hsd10 Mitochondrial Disease 24
977 EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 24
978 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 23
979 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 23
980 c MCR238 Microcephaly 7, Primary, Autosomal Recessive 23
981 c MNT210 Mental Retardation, Autosomal Recessive 42 23
982 c MCR269 Microcephaly 15, Primary, Autosomal Recessive 23
983 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 23
984 c MCR255 Microcephaly 9, Primary, Autosomal Recessive 23
985 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 22
986 c MCR320 Microcephaly 17, Primary, Autosomal Recessive 22
987 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 21
988 MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 20
989 c MNT270 Mental Retardation, Autosomal Recessive 53 20
990 MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 20
991 c MNT262 Mental Retardation, Autosomal Dominant 42 20
992 c PRM060 Primary Autosomal Recessive Microcephaly Type 2 18
993 c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 18
994 MNT268 Mental Retardation, X-Linked, Syndromic, Borck Type 14
995 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 12
996 c ALZ037 Alzheimer Disease-2 52
997 GRW004 Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency 35
998 AMY095 Amyotrophic Lateral Sclerosis 6, with or Without Frontotemporal Dementia 33
999 CHR543 Chromosome 2q37 Deletion Syndrome 30
1000 MCD002 Mcdonough Syndrome 29
1001 SPR100 Supranuclear Palsy, Progressive Atypical 28
1002 c MNT248 Mental Retardation, X-Linked 102 25
1003 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 25
1004 c MNT144 Mental Retardation, Autosomal Dominant 6 25
1005 RNL070 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities 23
1006 c MNT223 Mental Retardation, X-Linked 100 21
1007 c MNT224 Mental Retardation, X-Linked 101 21
1008 c MNT183 Mental Retardation, Autosomal Recessive 36 21
1009 FLY003 Flynn-Aird Syndrome 21
1010 WHT019 White-Sutton Syndrome 21
1011 c MNT218 Mental Retardation, X-Linked 99 19
1012 PLT011 Pilotto Syndrome 19
1013 c MNT267 Mental Retardation, X-Linked 104 19
1014 SKL011 Skeletal Defects, Genital Hypoplasia, and Mental Retardation 18
1015 c MNT271 Mental Retardation, X-Linked 61 17
1016 c MNT275 Mental Retardation, Autosomal Recessive 60 16
1017 MNT283 Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly 16
1018 MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 15
1019 c MNT289 Mental Retardation, X-Linked 103 15
1020 c HYP593 Hyperphosphatasia with Mental Retardation Syndrome 5 15
1021 MNT028 Mental Retardation Smith Fineman Myers Type 9
1022 P FCS002 Fucosidosis 59
1023 P INT063 Intellectual Disability 58
1024 P SPS003 Spastic Diplegia 52
1025 DBW001 Dubowitz Syndrome 44
1026 NSY001 N Syndrome 44
1027 c MCR256 Microphthalmia, Syndromic 9 43
1028 c ERL006 Early-Onset Familial Alzheimer Disease 39
1029 c MCR261 Microphthalmia, Syndromic 2 38
1030 c MCR263 Microphthalmia, Syndromic 1 37
1031 P CHR102 Charcot-Marie-Tooth Neuropathy 37
1032 P MRN003 Marinesco-Sjogren Syndrome 37
1033 P MCR241 Microphthalmia, Syndromic 3 34
1034 RMN002 Ramon Syndrome 33
1035 SLT014 Salt and Pepper Developmental Regression Syndrome 33
1036 c AMY019 Amyotrophic Lateral Sclerosis Type 10 33
1037 AYM001 Ayme-Gripp Syndrome 32
1038 c MCR251 Microphthalmia, Syndromic 6 31
1039 CHL012 Childhood Disintegrative Disease 31
1040 c CHR113 Charcot-Marie-Tooth Neuropathy Type 1 29
1041 c MCR252 Microphthalmia, Syndromic 5 29
1042 c MCR245 Microphthalmia, Syndromic 8 27
1043 c CHR316 Charcot-Marie-Tooth Neuropathy X 26
1044 c CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 25
1045 c CHR115 Charcot-Marie-Tooth Neuropathy Type 2a 25
1046 SMT020 Smith-Kingsmore Syndrome 25
1047 c MCR212 Microphthalmia, Syndromic 12 25
1048 c CFF010 Coffin-Siris Syndrome 3 25
1049 c CFF007 Coffin-Siris Syndrome 2 24
1050 c CFF009 Coffin-Siris Syndrome 4 24
1051 c MCR228 Microphthalmia, Syndromic 13 23
1052 BLB005 Beaulieu-Boycott-Innes Syndrome 23
1053 c MCR217 Microphthalmia, Syndromic 11 23
1054 BRK011 Brooks-Wisniewski-Brown Syndrome 22
1055 CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 22
1056 c MCR262 Microphthalmia, Syndromic 4 22
1057 CHR506 Choroideremia, Deafness, and Mental Retardation 21
1058 PRT110 Prieto Syndrome 21
1059 MTP004 Metaphyseal Acroscyphodysplasia 21
1060 MGL027 Megalocornea-Intellectual Disability Syndrome 21
1061 c INT144 Intermediate Charcot-Marie-Tooth Neuropathy 20
1062 XLN162 X-Linked Intellectual Disability, Najm Type 20
1063 c PRK008 Parkinson Disease Type 9 20
1064 PLL004 Pallister W Syndrome 20
1065 LWR016 Lowry-Maclean Syndrome 19
1066 MCR052 Microcephaly Microcornea Syndrome Seemanova Type 18
1067 OCL043 Oculorenocerebellar Syndrome 18
1068 EPL162 Epilepsy-Telangiectasia 18
1069 BLP010 Blepharophimosis Intellectual Disability Syndromes 18
1070 c BMN004 Biemond Syndrome Ii 17
1071 5Q1001 5q14.3 Microdeletion Syndrome 17
1072 HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 17
1073 LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 17
1074 MYT024 Myotonia with Skeletal Abnormalities and Mental Retardation 16
1075 c MCR312 Microphthalmia, Syndromic 10 16
1076 CRN267 Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation 15
1077 c DNM001 Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy 15
1078 DXT003 Dextrocardia with Unusual Facies and Microphthalmia 15
1079 c CHR120 Charcot-Marie-Tooth Neuropathy X Type 1 15
1080 CLR029 Clark-Baraitser Syndrome 15
1081 EPL170 Epilepsy-Aphasia Spectrum 15
1082 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 15
1083 BRC089 Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome 14
1084 c SPS018 Spastic Diplegia Infantile Type 14
1085 c CHR121 Charcot-Marie-Tooth Neuropathy X Type 5 14
1086 FTZ003 Fitzsimmons Syndrome 14
1087 GRX001 Grix Blankenship Peterson Syndrome 14
1088 SPS047 Spastic Paraplegia with Precocious Puberty 13
1089 c CHR575 Charcot-Marie-Tooth Neuropathy X Type 6 13
1090 c CHR303 Charcot-Marie-Tooth Neuropathy Type 2h/2k 13
1091 c CHR319 Charcot-Marie-Tooth Neuropathy X Type 4 12
1092 P BMN001 Biemond Syndrome 12
1093 ZLT002 Zlotogora Syndrome 11
1094 c CHR116 Charcot-Marie-Tooth Neuropathy Type 2e/1f 11
1095 c GDP002 Gdap1-Related Intermediate Charcot-Marie-Tooth Neuropathy 11
1096 c CHR315 Charcot-Marie-Tooth Neuropathy Type 4j 11
1097 c CHR304 Charcot-Marie-Tooth Neuropathy Type 2i/2j 10
1098 c CHR318 Charcot-Marie-Tooth Neuropathy X Type 3 10
1099 c CSK002 Cask-Related Intellectual Disability 10
1100 AMY096 Amyloidosis of Gingiva and Conjunctiva with Intellectual Disability 10
1101 XLN106 X-Linked Intellectual Disability with or Without Nystagmus 9
1102 c PRP048 Prps1-Related Charcot-Marie-Tooth Neuropathy X Type 5 9
1103 c CHR313 Charcot-Marie-Tooth Neuropathy Type 4f 9
1104 c CHR317 Charcot-Marie-Tooth Neuropathy X Type 2 9
1105 c FCS008 Fucosidosis Type 1 9
1106 c CHR306 Charcot-Marie-Tooth Neuropathy Type 2n 8
1107 c SYN073 Syngap1-Related Intellectual Disability 8
1108 c CHR302 Charcot-Marie-Tooth Neuropathy Type 2g 8
1109 c CHR307 Charcot-Marie-Tooth Neuropathy Type 2o 8
1110 DVR003 Devriendt Syndrome 8
1111 c CHR305 Charcot-Marie-Tooth Neuropathy Type 2l 7
1112 c KRS002 Kars-Related Intermediate Charcot-Marie-Tooth Neuropathy 7
1113 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 7
1114 c PPP001 Ppp2r5d-Related Intellectual Disability 7
1115 CMR003 Camera Marugo Cohen Syndrome 7
1116 CHD003 Chudley Rozdilsky Syndrome 7
1117 MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 7
1118 c CHR479 Charcot-Marie-Tooth Neuropathy Type 4b3 7
1119 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 6
1120 c ATS348 Autosomal Dominant Intellectual Disability 30 6
1121 c PLK002 Plekhg5-Related Intermediate Charcot-Marie-Tooth Neuropathy C 6
1122 c TRR002 Trio-Related Intellectual Disability 6
1123 PSS001 Passos-Bueno Syndrome 6
1124 WLK002 Walker Dyson Syndrome 6
1125 c ATS360 Autosomal Recessive Intellectual Disability 58 5
1126 KRN006 Karandikar Maria Kamble Syndrome 5
1127 PFF002 Pfeiffer Kapferer Syndrome 5
1128 INT089 Intellectual Deficit - Short Stature - Hypertelorism 5
1129 KSZ002 Kosztolanyi Syndrome 5
1130 KZL006 Kozlowski-Krajewska Syndrome 5
1131 MNT026 Mental Retardation Short Stature Microcephaly Eye 5
1132 PFF003 Pfeiffer Mayer Syndrome 5
1133 TNK001 Tonoki Syndrome 5
1134 c TBC003 Tbck-Related Intellectual Disability Syndrome 5
1135 BDH001 Boudhina Yedes Khiari Syndrome 4
1136 c MRN006 Marinesco-Sjogren-Like Syndrome 4
1137 WDM002 Wiedemann Oldigs Oppermann Syndrome 4
1138 CRT027 Cartwright Nelson Fryns Syndrome 4
1139 DVS001 Davis Lafer Syndrome 4
1140 AMP011 Ampola Syndrome 4
1141 KNR001 Koone Rizzo Elias Syndrome 4
1142 KTS001 Katsantoni Papadakou Lagoyanni Syndrome 4
1143 CNT052 Cantalamessa Baldini Ambrosi Syndrome 4
1144 PSS002 Piussan Lenaerts Mathieu Syndrome 4
1145 ZRR001 Zerres Rietschel Majewski Syndrome 4
1146 ZZM001 Zazam Sheriff Phillips Syndrome 4
1147 c BMN003 Biemond Syndrome Type 1 4
1148 c DDX001 Ddx3x-Related Intellectual Disability 4
1149 MNT019 Mental Retardation Hypotonia Skin Hyperpigmentation 3
1150 RMS002 Ramos Arroyo Clark Syndrome 3
1151 DKR001 Duker Weiss Siber Syndrome 3
1152 KZL003 Kozlowski Ouvrier Syndrome 3
1153 MCR072 Microdontia Hypodontia Short Stature 3
1154 FNG007 Feingold Trainer Syndrome 3
1155 HRD065 Hordnes Engebretsen Knudtson Syndrome 3
1156 MNT040 Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 3
1157 CNT053 Cantu Sanchez-Corona Fragoso Syndrome 3
1158 CNT055 Cantu Sanchez-Corona Hernandez Syndrome 3
1159 SMM001 Sammartino Decreccio Syndrome 3
1160 SNG001 Singh Chhaparwal Dhanda Syndrome 3
1161 PLN009 Palant Cleft Palate Syndrome 3
1162 MNT015 Mental Retardation Epilepsy Bulbous Nose 3
1163 P ATS007 Autism Spectrum Disorder 65
1164 OBS002 Obsessive-Compulsive Disorder 64
1165 GLL008 Gilles De La Tourette Syndrome 63
1166 ALC007 Alcohol Dependence 62
1167 P NRC002 Narcolepsy 62
1168 P ANR007 Anorexia Nervosa 60
1169 c PND001 Pain Disorder 55
1170 PST028 Post-Traumatic Stress Disorder 55
1171 BLM002 Bulimia Nervosa 51
1172 STT041 Stuttering 49
1173 ASP001 Asperger Syndrome 49
1174 APR001 Apraxia 49
1175 BRX001 Bruxism 48
1176 P CHR345 Chronic Pain 48
1177 TRC010 Trichotillomania 40
1178 TRN012 Transient Global Amnesia 39
1179 HYP016 Hypochondriasis 37
1180 VSL003 Visual Agnosia 36
1181 NRT001 Neurotic Disorder 36
1182 RMN001 Rumination Disorder 35
1183 CNC001 Cancerophobia 33
1184 VSC004 Vasculogenic Impotence 32
1185 c NRC009 Narcolepsy 1 31
1186 c CNT068 Central Pain Syndrome 29
1187 c ANR038 Anorexia Nervosa 1 27
1188 MNC002 Munchausen by Proxy 26
1189 c NRC017 Narcolepsy 7 25
1190 c NRC011 Narcolepsy 3 25
1191 CMB002 Combat Disorder 24
1192 c ATS173 Autism 18 24
1193 CRT007 Cortical Deafness 23
1194 SML010 Simultanagnosia 21
1195 c NRC010 Narcolepsy 2 21
1196 c ADV003 Advanced Sleep Phase Syndrome, Familial, 1 20
1197 PRT001 Partial Fetal Alcohol Syndrome 19
1198 ALC002 Alcohol-Related Neurodevelopmental Disorder 19
1199 c NRC012 Narcolepsy 4 19
1200 c NRC013 Narcolepsy 5 18
1201 c ADV002 Advanced Sleep-Phase Syndrome, Familial, 2 17
1202 c NRC018 Narcolepsy 6 17
1203 CLT002 Cluttering 17
1204 c ATS170 Autism 19 17
1205 c ATS171 Autism 9 17
1206 c ATS172 Autism 10 16
1207 ELC001 Elective Mutism 16
1208 c ADV006 Advanced Sleep Phase Syndrome, Familial, 3 15
1209 c NRC008 Narcolepsy Risk Factor 9
1210 VSL001 Visual Verbal Agnosia 8
1211 FTL063 Fetal Nicotine Spectrum Disorder 6
1212 P FRG001 Fragile X Syndrome 67
1213 c FRG004 Fragile X Syndrome Type 1 8
1214 c FRG005 Fragile X Syndrome Type 2 6
1215 c FRG006 Fragile X Syndrome Type 3 6
1216 WLS004 Wilson-Turner Syndrome 40
1217 MNT121 Mental Retardation, X-Linked Syndromic, Christianson Type 41
1218 NSH001 Nasu-Hakola Disease 47
1219 P BRT040 Baraitser-Winter Syndrome 31
1220 CRB151 Cerebral Creatine Deficiency Syndrome 1 46
1221 P NRP042 Neuropathy, Hereditary Sensory and Autonomic, Type Ii 45
1222 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 40
1223 MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 29
1224 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 28
1225 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 26
1226 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 24
1227 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 23
1228 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 23
1229 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 22
1230 c HRD195 Hereditary Sensory and Autonomic Neuropathy Type 1e 15
1231 c HRD081 Hereditary Sensory and Autonomic Neuropathy Type Iic 12
1232 KBG001 Kbg Syndrome 49
1233 SSM001 Sesame Syndrome 54
1234 CWC001 Cowchock Syndrome 37
1235 PRT003 Partington Syndrome 44
1236 c MNT149 Mental Retardation, X-Linked 3 33
1237 PCK002 Pick Disease 68
1238 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 49
1239 ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 40
1240 OLV004 Oliver-Mcfarlane Syndrome 31
1241 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 46
1242 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 42
1243 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 38
1244 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 31
1245 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 29
1246 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 26
1247 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 24
1248 c AMY091 Amyotrophic Lateral Sclerosis 1 78
1249 c SPN294 Spinocerebellar Ataxia 1 56
1250 P SPN301 Spinocerebellar Ataxia 2 55
1251 ACR008 Acrocallosal Syndrome 55
1252 c SPN293 Spinocerebellar Ataxia 12 52
1253 c SPN291 Spinocerebellar Ataxia 7 51
1254 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 51
1255 P CFF008 Coffin-Siris Syndrome 1 51
1256 c SPN314 Spinocerebellar Ataxia 10 50
1257 c SPN312 Spinocerebellar Ataxia 14 49
1258 c SPN296 Spinocerebellar Ataxia 17 47
1259 c SPN309 Spinocerebellar Ataxia 6 47
1260 c SPN311 Spinocerebellar Ataxia 13 45
1261 c SPN305 Spinocerebellar Ataxia 11 44
1262 c SPN290 Spinocerebellar Ataxia 15 44
1263 c SPN100 Spinocerebellar Ataxia 27 44
1264 c SPN308 Spinocerebellar Ataxia 28 44
1265 c SPN304 Spinocerebellar Ataxia 8 42
1266 c SPN265 Spinocerebellar Ataxia 36 42
1267 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40
1268 c SPN106 Spinocerebellar Ataxia 5 40
1269 c SPN103 Spinocerebellar Ataxia 31 39
1270 c SPN097 Spinocerebellar Ataxia 23 38
1271 c SPN094 Spinocerebellar Ataxia 18 37
1272 c SPN099 Spinocerebellar Ataxia 26 34
1273 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 34
1274 c SPN299 Spinocerebellar Ataxia 20 34
1275 KFM001 Kaufman Oculocerebrofacial Syndrome 33
1276 c SPN105 Spinocerebellar Ataxia 4 33
1277 c SPN095 Spinocerebellar Ataxia 19 33
1278 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 33
1279 c SPN266 Spinocerebellar Ataxia 35 32
1280 c SPN104 Spinocerebellar Ataxia 34 30
1281 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 30
1282 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 30
1283 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 29
1284 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 29
1285 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 29
1286 c SPN098 Spinocerebellar Ataxia 25 28
1287 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
1288 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
1289 c SPN286 Spinocerebellar Ataxia 40 27
1290 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 26
1291 c SPN284 Spinocerebellar Ataxia 38 26
1292 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 26
1293 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
1294 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 25
1295 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 25
1296 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 25
1297 c SPN372 Spinocerebellar Ataxia 43 25
1298 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 25
1299 c SPN247 Spinocerebellar Ataxia Type 19/22 24
1300 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 24
1301 c SPN102 Spinocerebellar Ataxia 30 23
1302 c SPN283 Spinocerebellar Ataxia 37 23
1303 c SPN383 Spinocerebellar Ataxia 42 23
1304 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 23
1305 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 22
1306 c SPN323 Spinocerebellar Ataxia 41 20
1307 OPT062 Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures 19
1308 c SPN259 Spinocerebellar Ataxia 32 18
1309 c SPN107 Spinocerebellar Ataxia 9 17
1310 c SPN336 Spinocerebellar Ataxia Type 16 16
1311 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 16
1312 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 15
1313 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 14
1314 c GRD008 Grid2-Related Spinocerebellar Ataxia 8
1315 PRR007 Perry Syndrome 58
1316 CFF002 Coffin-Lowry Syndrome 58
1317 c SPS092 Spastic Paraplegia 11 25
1318 MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 20
1319 DND017 Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures 13
1320 LBN005 Lubani-Al Saleh-Teebi Syndrome 6
1321 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 51
1322 P PTT014 Pitt-Hopkins Syndrome 51
1323 P SJG002 Sjogren-Larsson Syndrome 51
1324 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 38
1325 TMT003 Temtamy Syndrome 29
1326 c PTT030 Pitt-Hopkins-Like Syndrome 2 25
1327 c PTT042 Pitt-Hopkins-Like Syndrome 13
1328 c SJG003 Sjogren-Larsson-Like Syndrome 5
1329 LSC001 Lesch-Nyhan Syndrome 62
1330 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 32
1331 CHR423 Chorea, Hereditary Benign 29
1332 RCH002 Richards-Rundle Syndrome 27
1333 INS024 Insulin-Like Growth Factor I 75
1334 P SMP003 Simpson-Golabi-Behmel Syndrome 53
1335 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 50
1336 c TRC102 Trichothiodystrophy 1, Photosensitive 50
1337 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 35
1338 c SPN096 Spinocerebellar Ataxia 21 33
1339 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 32
1340 LNZ003 Lenz-Majewski Hyperostotic Dwarfism 31
1341 DBR002 De Barsy Syndrome 31
1342 GRR002 Gurrieri Syndrome 24
1343 MD2001 Med23 23
1344 MCR305 Microcephaly with Cervical Spine Fusion Anomalies 19
1345 MCR066 Microcephaly-Cardiomyopathy 19
1346 c TRC100 Trichothiodystrophy 3, Photosensitive 19
1347 MCR306 Microcephaly-Deafness Syndrome 18
1348 P TRC099 Trichothiodystrophy 2, Photosensitive 18
1349 OST149 Osteolysis Syndrome, Recessive 18
1350 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 17
1351 OST047 Osteopenia and Sparse Hair 16
1352 ART113 Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability 16
1353 VND003 Van Den Bosch Syndrome 16
1354 NRP046 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers 13
1355 ADN078 Adnp Syndrome 12
1356 HNT009 Hunter-Mcalpine Syndrome 11
1357 KFF001 Kifafa Seizure Disorder 11
1358 CRD019 Cardiocranial Syndrome 10
1359 c HVP001 Hivep2-Related Intellectual Disability 10
1360 RRD001 Reardon Wilson Cavanagh Syndrome 9
1361 CDL001 Caudal Appendage Deafness 8
1362 BTT012 Battaglia-Neri Syndrome 7
1363 c GPC001 Gpc3-Related Simpson-Golabi-Behmel Syndrome Type 1 6
1364 c GPC002 Gpc4-Related Simpson-Golabi-Behmel Syndrome Type 1 6
1365 INT090 Intellectual Deficit Buenos-Aires Type 6
1366 c OFD003 Ofd1-Related Simpson-Golabi-Behmel Syndrome Type 2 6
1367 c PGR001 Piga-Related Simpson-Golabi-Behmel Syndrome Type 2 6
1368 XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 4
1369 MNT025 Mental Retardation Short Stature Deafness Genital 3
1370 VSC007 Vascular Disease 65
1371 P AGN002 Agnosia 59
1372 P FTL001 Fetal Alcohol Syndrome 53
1373 CNV002 Conversion Disorder 40
1374 KLN009 Kleine-Levin Hibernation Syndrome 37
1375 DPR002 Depersonalization Disorder 34
1376 P ADV001 Advanced Sleep Phase Syndrome 32
1377 KLV001 Kluver-Bucy Syndrome 26
1378 P LKN019 Leukoencephalopathy, Diffuse Hereditary, with Spheroids 36
1379 c CSF001 Csf1r-Related Hereditary Diffuse Leukoencephalopathy with Spheroids 12
1380 ENC039 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 39
1381 P FCL005 Focal Segmental Glomerulosclerosis 60
1382 c GLM029 Glomerulosclerosis, Focal Segmental, 1 48
1383 GNT031 Genitopatellar Syndrome 43
1384 c GLM033 Glomerulosclerosis, Focal Segmental, 4 29
1385 c GLM039 Glomerulosclerosis, Focal Segmental, 6 29
1386 c GLM026 Glomerulosclerosis, Focal Segmental, 2 28
1387 c GLM027 Glomerulosclerosis, Focal Segmental, 3 27
1388 c GLM028 Glomerulosclerosis, Focal Segmental, 5 26
1389 c GLM041 Glomerulosclerosis, Focal Segmental, 7 25
1390 BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 24
1391 c FCL053 Focal Segmental Glomerulosclerosis 8 23
1392 c FCL055 Focal Segmental Glomerulosclerosis 9 22
1393 BHR001 Behr Syndrome 38
1394 c DFN036 Deafness, X-Linked 2 35
1395 c DFN105 Deafness, X-Linked 5 25
1396 c DFN194 Deafness, X-Linked 1 25
1397 MMS001 Momo Syndrome 24
1398 c DFN276 Deafness, X-Linked 6 23
1399 c DFN147 Deafness, X-Linked 4 22
1400 P XLN004 X-Linked Nonsyndromic Deafness 18
1401 c DFN186 Deafness, Y-Linked 1 11
1402 c DFN146 Deafness, X-Linked 3 11
1403 P ORT004 Orthostatic Intolerance 63
1404 P WVR001 Weaver Syndrome 60
1405 c WRB002 Warburg Micro Syndrome 1 41
1406 c WRB005 Warburg Micro Syndrome 4 36
1407 P WRB001 Warburg Micro Syndrome 33
1408 WYB001 Wyburn Mason's Syndrome 25
1409 c WRB004 Warburg Micro Syndrome 3 25
1410 c WRB003 Warburg Micro Syndrome 2 23
1411 c WVR003 Weaver Syndrome 1 19
1412 c CHR344 Chronic Orthostatic Intolerance 19
1413 FKY002 Fukuyama Type Muscular Dystrophy 18
1414 2Q3001 2q37 Deletion Syndrome 12
1415 c EZH002 Ezh2-Related Weaver Syndrome 5
1416 c FTL006 Fetal Alcohol Spectrum Disorder 43



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