Neuronal Diseases Category (5228 diseases)


Including: Nervous, Brain, Spinal, Mental, Intellectual
See other categories (disease lists)

# Family MCID Name MIFTS
1 NRF026 Neurofibromatosis, Type Iv, of Riccardi 73
2 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 46
3 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 59
4 c GLY008 Glycogen Storage Disease Ii 64
5 P GLY013 Glycogen Storage Disease 61
6 c GLY060 Glycogen Storage Disease Ia 57
7 c GLY003 Glycogen Storage Disease Iii 55
8 c GLY004 Glycogen Storage Disease V 54
9 c GLY007 Glycogen Storage Disease Iv 51
10 c GLY005 Glycogen Storage Disease Vi 51
11 c GLY011 Glycogen Storage Disease Vii 48
12 c GLY098 Glycogen Storage Disease, Type Ixd 40
13 c GLY016 Glycogen Storage Disease Ib 35
14 c GLY023 Glycogen Storage Disease Type 0 34
15 c GLY044 Glycogen Storage Disease Ixc 31
16 c GLY057 Glycogen Storage Disease X 29
17 c GLY017 Glycogen Storage Disease Ic 28
18 c GLY043 Glycogen Storage Disease Xii 27
19 c GLY097 Glycogen Storage Disease Ixb 26
20 c GLY009 Glycogen Storage Disease Xv 26
21 c GLY059 Glycogen Storage Disease Xiii 22
22 c GLY006 Glycogen Storage Disease Viii 20
23 c GLY093 Glycogen Storage Disease Ixa 17
24 c GLY001 Glycogen Storage Disease Ix 12
25 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 32
26 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 37
27 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 55
28 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 45
29 MNT304 Mental Retardation, X-Linked, with or Without Seizures, Arx-Related 20
30 HYP186 Hypertrophic Neuropathy of Dejerine-Sottas 45
31 BRN028 Brain Cancer 72
32 NRP051 Neuropathy, Hereditary, with Liability to Pressure Palsies 56
33 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 48
34 MTC016 Mitochondrial Neurogastrointestinal Encephalopathy Disease 30
35 ABD002 Abducens Nerve Disease 29
36 MTC036 Mitochondrial Membrane Protein-Associated Neurodegeneration 25
37 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 31
38 CNC002 Cinca Syndrome 62
39 c CRD225 Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant 25
40 RNP003 Renpenning Syndrome 1 52
41 NRP060 Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive 50
42 NRM016 Neuromyotonia and Axonal Neuropathy, Autosomal Recessive 30
43 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 31
44 c MNT135 Mental Retardation, X-Linked, Syndromic 13 36
45 PTT059 Pettigrew Syndrome 41
46 DBT087 Diabetes Insipidus, Neurohypophyseal 60
47 PNC119 Pancreatic Neuroendocrine Tumor 48
48 MNT303 Mental Retardation, X-Linked, Syndromic, Cabezas Type 28
49 c DST030 Distal Hereditary Motor Neuropathy, Type V 20
50 c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 60
51 P GNT009 Giant Axonal Neuropathy 51
52 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 38
53 CMB026 Combined Oxidative Phosphorylation Deficiency 12 28
54 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 26
55 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 31
56 P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 54
57 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 41
58 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 32
59 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 22
60 P NRB001 Neuroblastoma 72
61 INT319 Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked 31
62 MLG077 Malignant Peripheral Nerve Sheath Tumor 60
63 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 51
64 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 36
65 BRN048 Brain Stem Cancer 31
66 ACS001 Acoustic Neuroma 60
67 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 43
68 P NRD007 Neurodegeneration with Brain Iron Accumulation 45
69 SPN040 Spinal Cancer 42
70 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 40
71 INS023 Insensitivity to Pain, Congenital, with Anhidrosis 40
72 c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 33
73 ATH001 Athabaskan Brainstem Dysgenesis Syndrome 26
74 c HRD010 Hereditary Spastic Paraplegia 67
75 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 51
76 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 49
77 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 48
78 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 42
79 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 41
80 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 40
81 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 39
82 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 39
83 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 38
84 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 37
85 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 37
86 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 37
87 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 37
88 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 37
89 CWC001 Cowchock Syndrome 37
90 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 37
91 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 37
92 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
93 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 36
94 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 35
95 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 35
96 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
97 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 34
98 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 34
99 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 34
100 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 34
101 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 33
102 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 33
103 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 33
104 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 33
105 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 33
106 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 33
107 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 33
108 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 32
109 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 32
110 P NRP059 Neuropathy, Hereditary Motor and Sensory, Type Via 31
111 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 31
112 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 31
113 c SPS031 Spastic Paraplegia 23 31
114 P SPS012 Spastic Paraplegia 3a 30
115 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 30
116 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 29
117 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 28
118 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
119 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 28
120 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 27
121 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 27
122 ART127 Arthrogryposis Multiplex Congenita, Neurogenic Type 27
123 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 27
124 c HRD186 Hereditary Spastic Paraplegia 51 27
125 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 26
126 c SPS021 Spastic Paraplegia 10 26
127 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 26
128 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 26
129 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 26
130 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 26
131 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 26
132 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 25
133 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 25
134 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 25
135 c SPS039 Spastic Paraplegia 5a 25
136 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 25
137 c SPS036 Spastic Paraplegia 3 23
138 c SPS025 Spastic Paraplegia 15 23
139 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 23
140 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 22
141 c SPS091 Spastic Paraplegia 4 21
142 c SPS013 Spastic Paraplegia 8 20
143 c HRD188 Hereditary Spastic Paraplegia 72 19
144 c SPS037 Spastic Paraplegia 31 19
145 c SPS034 Spastic Paraplegia 26 18
146 c SPS027 Spastic Paraplegia 17 18
147 c SPS028 Spastic Paraplegia 18 17
148 c SPS041 Spastic Paraplegia 6 17
149 c SPS023 Spastic Paraplegia 13 17
150 c SPS080 Spastic Paraplegia 51 16
151 c SPS032 Spastic Paraplegia 24 15
152 c SPS033 Spastic Paraplegia 25 15
153 c SPS035 Spastic Paraplegia 29 15
154 c SPS022 Spastic Paraplegia 12 15
155 c SPS026 Spastic Paraplegia 16 14
156 c SPS161 Spastic Paraplegia 32 14
157 c SPS029 Spastic Paraplegia 19 14
158 c SPS024 Spastic Paraplegia 14 12
159 c SPS040 Spastic Paraplegia 5b 11
160 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 11
161 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 11
162 c ATS186 Autosomal Recessive Spastic Paraplegia Type 68 11
163 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 11
164 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 11
165 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 11
166 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 11
167 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 11
168 NRN004 Neuroendocrine Tumor 58
169 ATX010 Ataxia Neuropathy Spectrum 35
170 PRP019 Peripheral Nervous System Disease 60
171 c NRN040 Neuronopathy, Distal Hereditary Motor, Type Viib 26
172 NRP049 Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux 20
173 c SPN335 Spinocerebellar Ataxia Type 1 with Axonal Neuropathy 16
174 NRV006 Nervous System Cancer 60
175 P NRF023 Neurofibromatosis, Type Ii 68
176 P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 47
177 ENC039 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 42
178 c PRM039 Primary Angiitis of the Central Nervous System 26
179 SPL051 Split Spinal Cord Malformation 19
180 PRT052 Partington X-Linked Mental Retardation Syndrome 41
181 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 41
182 c NRN037 Neuronopathy, Distal Hereditary Motor, Type Va 28
183 CSY002 Coasy Protein-Associated Neurodegeneration 17
184 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 55
185 P CRB185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 49
186 P HRD021 Hereditary Sensory Neuropathy 48
187 MSS001 Masa Syndrome 45
188 MLN073 Melanosis, Neurocutaneous 38
189 MGR035 Migraine with Brainstem Aura 19
190 c AMY091 Amyotrophic Lateral Sclerosis 1 89
191 MCL009 Mcleod Syndrome 45
192 c AMY090 Amyotrophic Lateral Sclerosis 8 42
193 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 41
194 c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 39
195 c AMY067 Amyotrophic Lateral Sclerosis 18 38
196 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 38
197 c AMY069 Amyotrophic Lateral Sclerosis 21 38
198 c AMY085 Amyotrophic Lateral Sclerosis 9 33
199 c AMY088 Amyotrophic Lateral Sclerosis 3 32
200 c AMY059 Amyotrophic Lateral Sclerosis 19 32
201 c AMY083 Amyotrophic Lateral Sclerosis 11 32
202 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 31
203 c AMY074 Amyotrophic Lateral Sclerosis Type 14 26
204 c AMY063 Amyotrophic Lateral Sclerosis 20 26
205 c AMY089 Amyotrophic Lateral Sclerosis 7 26
206 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 24
207 c AMY055 Amyotrophic Lateral Sclerosis 17 24
208 c AMY023 Amyotrophic Lateral Sclerosis Type 6 23
209 c AMY062 Amyotrophic Lateral Sclerosis 12 23
210 c AMY022 Amyotrophic Lateral Sclerosis Type 5 22
211 c AMY108 Amyotrophic Lateral Sclerosis 23 17
212 c AMY079 Amyotrophic Lateral Sclerosis Type 15 15
213 c AMY112 Amyotrophic Lateral Sclerosis 25 14
214 c AMY110 Amyotrophic Lateral Sclerosis 24 11
215 c AMY109 Amyotrophic Lateral Sclerosis Type 22 10
216 c TRD001 Tardbp-Related Amyotrophic Lateral Sclerosis 9
217 c NRF024 Neurofibromatosis, Type I 66
218 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 46
219 c HRD138 Hereditary Motor and Sensory Neuropathy V 26
220 RBF002 Riboflavin Transporter Deficiency Neuronopathy 14
221 MSC077 Muscle Eye Brain Disease 50
222 CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 40
223 MHM001 Mehmo Syndrome 28
224 PCK003 Pick Disease of Brain 65
225 MLT075 Multifocal Motor Neuropathy 49
226 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 41
227 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 38
228 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 36
229 c FVL008 Foveal Hypoplasia 2 23
230 P FVL006 Foveal Hypoplasia 1 23
231 CRN033 Cranial Nerve Malignant Neoplasm 23
232 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 22
233 c CHR549 Charcot-Marie-Tooth Disease Type 2l 18
234 c CHR147 Charcot-Marie-Tooth Disease Type 2k 17
235 c CHR143 Charcot-Marie-Tooth Disease Type 2g 15
236 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 14
237 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 13
238 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 12
239 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 10
240 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 10
241 c DNJ004 Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 10
242 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 9
243 c CHR572 Charcot-Marie-Tooth Disease Type 7 8
244 NRT001 Neurotic Disorder 41
245 c CHR647 Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 36
246 PRM175 Primary Familial Brain Calcification 35
247 P ADT009 Auditory Neuropathy Spectrum Disorder 34
248 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 27
249 c NRN025 Neuronopathy, Distal Hereditary Motor, Type Viia 25
250 P HYP553 Hyperphosphatasia with Mental Retardation Syndrome 3 21
251 P PLZ001 Pelizaeus-Merzbacher Disease 66
252 P CHR071 Charcot-Marie-Tooth Disease 65
253 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 60
254 P GRS003 Griscelli Syndrome 56
255 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 54
256 ATN002 Autonomic Nervous System Disease 51
257 CRB151 Cerebral Creatine Deficiency Syndrome 1 50
258 c GRS013 Griscelli Syndrome, Type 1 47
259 c CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 44
260 P OPT070 Optic Nerve Hypoplasia, Bilateral 43
261 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 37
262 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 37
263 c SPN366 Spinocerebellar Ataxia with Axonal Neuropathy Type 2 35
264 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 32
265 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 32
266 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 31
267 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 31
268 P MSC002 Muscular Dystrophy-Dystroglycanopathy 30
269 c PLZ002 Pelizaeus-Merzbacher-Like Disease 29
270 c MNT143 Mental Retardation, Autosomal Dominant 13 26
271 c MNT301 Mental Retardation, X-Linked 21 24
272 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 22
273 SCP005 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 17
274 SPN186 Spinal Cord Injury 68
275 TXC002 Toxic Encephalopathy 55
276 CHR105 Choreoacanthocytosis 46
277 SPR008 Supratentorial Primitive Neuroectodermal Tumor 44
278 MTR007 Motor Peripheral Neuropathy 40
279 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 35
280 MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 34
281 c ADT007 Auditory Neuropathy, Autosomal Dominant, 1 28
282 LKN010 Leukoencephalopathy with Dystonia and Motor Neuropathy 28
283 c NRN024 Neuronopathy, Distal Hereditary Motor, Type Vb 22
284 c FRT006 Fourth Cranial Nerve Palsy, Familial Congenital 18
285 P GCH001 Gaucher's Disease 62
286 P NRN021 Neuronal Ceroid Lipofuscinosis 61
287 PRP021 Peripheral Nervous System Neoplasm 53
288 c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 48
289 c GCH017 Gaucher Disease, Type Iii 47
290 P MWT001 Mowat-Wilson Syndrome 46
291 c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 39
292 CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 30
293 c GCH013 Gaucher Disease, Type Iiic 28
294 c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 28
295 MNT056 Mental Retardation, X-Linked, Syndromic, Nascimento Type 25
296 NRP009 Neuropathy, Hereditary Motor and Sensory, Okinawa Type 24
297 c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 23
298 CRP034 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 23
299 c NRN018 Neuronopathy, Distal Hereditary Motor, Type Iic 21
300 c NRN041 Neuronopathy, Distal Hereditary Motor, Type Iib 21
301 c NRN026 Neuronopathy, Distal Hereditary Motor, Type Iid 20
302 c NRN035 Neuronopathy, Distal Hereditary Motor, Type Iia 19
303 CHR639 Chromosome Xp11.22 Duplication Syndrome 14
304 c PSD023 Pseudo-Gaucher Disease 14
305 EPD081 Epidermoid Brain Cyst 13
306 c MWT002 Mowat-Wilson Syndrome Due to Monosomy 2q22 9
307 c MWT004 Mowat-Wilson Syndrome Due to a Zeb2 Point Mutation 7
308 P CTS001 Cutis Laxa 62
309 c NMN013 Niemann-Pick Disease, Type a 59
310 P WRD001 Waardenburg's Syndrome 58
311 P CRB048 Cerebral Cavernous Malformations 57
312 ERY029 Erythermalgia, Primary 54
313 BRJ001 Borjeson-Forssman-Lehmann Syndrome 54
314 SNS003 Sensory Peripheral Neuropathy 53
315 c WRD030 Waardenburg Syndrome, Type 1 51
316 c WRD033 Waardenburg Syndrome, Type 2e 51
317 c WRD020 Waardenburg Syndrome, Type 4a 45
318 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 44
319 NRF008 Neurofibromatosis-Noonan Syndrome 43
320 LBS001 Lubs X-Linked Mental Retardation Syndrome 41
321 c WRD032 Waardenburg Syndrome, Type 2a 39
322 c NMN014 Niemann-Pick Disease, Type C2 38
323 c ATS393 Autosomal Recessive Cutis Laxa Type I 38
324 c CTS045 Cutis Laxa, Autosomal Dominant 1 37
325 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 37
326 HRD054 Hereditary Neuropathy with Liability to Pressure Palsy 36
327 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 36
328 c WRD024 Waardenburg Syndrome, Type 4c 35
329 c WRD031 Waardenburg Syndrome, Type 3 34
330 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 33
331 c WRD010 Waardenburg Syndrome Type 4 32
332 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30
333 c CRB051 Cerebral Cavernous Malformation, Familial 29
334 c WRD019 Waardenburg Syndrome, Type 4b 29
335 c ACQ027 Acquired Cutis Laxa 29
336 SCP002 Scapuloperoneal Spinal Muscular Atrophy 29
337 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 29
338 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 26
339 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 26
340 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
341 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 25
342 MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 25
343 c WRD029 Waardenburg Syndrome, Type 2b 22
344 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 22
345 c WRD022 Waardenburg Syndrome, Type 2d 21
346 FCL042 Facial Onset Sensory and Motor Neuronopathy 21
347 c ATP003 Atp6v0a2-Related Cutis Laxa 21
348 c CTS031 Cutis Laxa, Autosomal Dominant 2 21
349 c WRD026 Waardenburg Syndrome, Type 2c 17
350 c EFM001 Efemp2-Related Cutis Laxa 14
351 c LTB003 Ltbp4-Related Cutis Laxa 14
352 c FBL003 Fbln5-Related Cutis Laxa 8
353 MTR014 Motor Neuron Disease 61
354 CNT019 Central Neurocytoma 45
355 c GNT049 Giant Axonal Neuropathy 1, Autosomal Recessive 37
356 c CRD226 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive 36
357 WCK001 Wieacker-Wolff Syndrome 32
358 c DST027 Distal Hereditary Motor Neuropathy, Type Ii 31
359 HSD004 Hsd10 Mitochondrial Disease 30
360 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 27
361 CNG102 Congenital Hypomyelination Neuropathy 22
362 RTN207 Retinopathy, Pigmentary, and Mental Retardation 19
363 ALP025 Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 11
364 P VSC017 Visceral Neuropathy Familial 8
365 P MDL005 Medulloblastoma 75
366 NRV004 Nerve Compression Syndrome 35
367 c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 31
368 NRP010 Neuropathy, Hereditary Motor and Sensory, Russe Type 29
369 c MNT296 Mental Retardation, X-Linked, Syndromic 34 26
370 MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 22
371 c MNT187 Mental Retardation, X-Linked 49 22
372 c MNT305 Mental Retardation, X-Linked 12 20
373 ACC001 Accessory Nerve Disease 14
374 HYP028 Hypoglossal Nerve Disease 12
375 CRN305 Corneal Neuropathic Disease 6
376 NRF007 Neurofibroma 65
377 DBT010 Diabetic Neuropathy 59
378 ANN002 Anencephaly 56
379 LGS001 Legius Syndrome 50
380 c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 42
381 c HYP441 Hyperphosphatasia with Mental Retardation Syndrome 1 30
382 MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 27
383 PRM183 Primary Aldosteronism, Seizures, and Neurologic Abnormalities 23
384 c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 21
385 ANG067 Angioma, Hereditary Neurocutaneous 17
386 VGS001 Vagus Nerve Disease 16
387 NRM005 Neuromuscular Disease 60
388 P BRN035 Brain Stem Glioma 50
389 CRN031 Cranial Nerve Disease 45
390 c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 34
391 c CRD239 Ceroid Lipofuscinosis, Neuronal, 13 33
392 CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 25
393 HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 25
394 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 24
395 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 23
396 c NRP039 Neuropathy, Hereditary Sensory, Type Id 21
397 c NRP036 Neuropathy, Hereditary Sensory, Type if 21
398 PRT015 Partial Third-Nerve Palsy 21
399 NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 20
400 SYN062 Syncope, Familial Vasovagal 20
401 SYN092 Syndromic X-Linked Intellectual Disability Cabezas Type 20
402 SPN350 Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration 20
403 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 20
404 SPS197 Spastic Paraplegia with Neuropathy and Poikiloderma 17
405 MCR046 Microcephaly Brain Defect Spasticity Hypernatremia 13
406 ANR007 Anorexia Nervosa 62
407 P CFF008 Coffin-Siris Syndrome 1 58
408 CNT007 Central Nervous System Tuberculosis 45
409 c HRD088 Hereditary Neuropathies 39
410 NRN016 Neuronal Migration Disorders 38
411 AMY086 Amyotrophy, Hereditary Neuralgic 35
412 BRN118 Brain Small Vessel Disease with or Without Ocular Anomalies 35
413 WDH003 Woodhouse-Sakati Syndrome 34
414 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 33
415 LJN003 Lujan-Fryns Syndrome 32
416 JHN004 Johnson Neuroectodermal Syndrome 30
417 MTC058 Mitochondrial Dna Depletion Syndrome 6 29
418 MNT310 Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 27
419 c NRN027 Neuronopathy, Distal Hereditary Motor, Type I 23
420 c CFF011 Coffin-Siris Syndrome 6 22
421 c CFF006 Coffin-Siris Syndrome 5 21
422 c MNT196 Mental Retardation, X-Linked 92 20
423 DFN305 Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy 20
424 RLN001 Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 17
425 CRP001 Carpal Tunnel Syndrome 66
426 P CNG411 Congenital Disorder of Glycosylation, Type in 62
427 ART141 Arteriovenous Malformations of the Brain 56
428 c CNG415 Congenital Disorder of Glycosylation, Type Ia 52
429 c CNG412 Congenital Disorder of Glycosylation, Type Ii 46
430 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
431 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
432 TTH004 Tethered Spinal Cord Syndrome 38
433 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
434 MLN001 Melanotic Neuroectodermal Tumor 36
435 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
436 c CNG379 Congenital Disorder of Glycosylation, Type It 34
437 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
438 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
439 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
440 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
441 c CNG200 Congenital Disorder of Glycosylation, Type Iq 30
442 c CNG188 Congenital Disorder of Glycosylation, Type if 30
443 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
444 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
445 c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 29
446 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
447 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
448 P MNT319 Mental Retardation, Autosomal Dominant 20 28
449 c CNG194 Congenital Disorder of Glycosylation, Type Ig 28
450 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
451 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
452 c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 27
453 c CNG389 Congenital Disorder of Glycosylation, Type Iim 27
454 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
455 c CNG497 Congenital Disorder of Glycosylation, Type Iio 27
456 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27
457 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 27
458 c CNG383 Congenital Disorder of Glycosylation, Type Iik 26
459 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
460 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
461 c CNG207 Congenital Disorder of Glycosylation, Type Io 26
462 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
463 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 26
464 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 25
465 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
466 c CNG378 Congenital Disorder of Glycosylation, Type Ir 25
467 c NRP043 Neuropathy, Hereditary Motor and Sensory, Type Vib 25
468 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
469 c CNG504 Congenital Disorder of Glycosylation, Type Iip 25
470 c CNG386 Congenital Disorder of Glycosylation, Type Iu 24
471 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
472 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
473 c CNG193 Congenital Disorder of Glycosylation, Type Ip 23
474 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 23
475 c MNT155 Mental Retardation, Autosomal Recessive 2 23
476 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
477 c CNG203 Congenital Disorder of Glycosylation, Type Iii 22
478 OLF001 Olfactory Nerve Disease 18
479 SLW005 Slowed Nerve Conduction Velocity, Autosomal Dominant 18
480 c MNT200 Mental Retardation, X-Linked 97 17
481 TRC015 Trochlear Nerve Disease 14
482 P NRV007 Nervous System Disease 73
483 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 67
484 BLM002 Bulimia Nervosa 58
485 P INF016 Infantile Epileptic Encephalopathy 54
486 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 52
487 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 48
488 OLF005 Olfactory Neuroblastoma 47
489 c GCH016 Gaucher Disease, Type Ii 44
490 NRN005 Neuronal Ceroid-Lipofuscinoses 44
491 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 40
492 c HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 39
493 OPT008 Optic Nerve Neoplasm 38
494 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 37
495 AMY005 Amyloid Neuropathy 36
496 P CNT037 Central Nervous System Germinoma 36
497 SYN089 Syndromic X-Linked Intellectual Disability Snyder Type 35
498 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 35
499 GLL028 Gillespie Syndrome 33
500 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 32
501 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 32
502 CRB024 Cerebral Neuroblastoma 31
503 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 30
504 MNT302 Mental Retardation, X-Linked, Syndromic, Christianson Type 29
505 PRM284 Primitive Neuroectodermal Tumor of the Cervix Uteri 27
506 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 27
507 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 26
508 THR010 Third Cranial Nerve Disease 26
509 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 26
510 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 25
511 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 25
512 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 24
513 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 24
514 RCT005 Rectum Neuroendocrine Neoplasm 24
515 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 23
516 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 23
517 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 23
518 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 23
519 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 23
520 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 22
521 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 22
522 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 22
523 NRG006 Neurogenic Thoracic Outlet Syndrome 22
524 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 22
525 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 22
526 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 22
527 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 22
528 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21
529 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 21
530 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 21
531 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 21
532 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 21
533 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 21
534 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 21
535 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 20
536 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 20
537 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 20
538 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 20
539 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 20
540 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 20
541 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 20
542 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 20
543 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 20
544 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 20
545 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 20
546 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 20
547 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 20
548 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 20
549 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 19
550 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 19
551 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 19
552 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 18
553 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 17
554 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 17
555 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 16
556 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 16
557 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 16
558 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 16
559 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 15
560 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 15
561 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 15
562 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 14
563 SPN045 Spinal Cord Primitive Neuroectodermal Neoplasm 10
564 c INF166 Infantile Epileptic Encephalopathy 55 9
565 c INF169 Infantile Epileptic Encephalopathy 59 9
566 LWG004 Low-Grade Neuroendocrine Tumor of the Corpus Uteri 8
567 c INF165 Infantile Epileptic Encephalopathy 56 8
568 c INF167 Infantile Epileptic Encephalopathy 57 8
569 c INF168 Infantile Epileptic Encephalopathy 58 8
570 LPS008 Lupus - Neurological Sequelae 5
571 PNF001 Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus Syndrome 5
572 P INT030 Intracranial Aneurysm 57
573 CYS005 Cysticercosis 56
574 TRM010 Traumatic Brain Injury 55
575 MTC061 Mitochondrial Dna Depletion Syndrome 1 44
576 NRL004 Neuroleptic Malignant Syndrome 44
577 NRF003 Neurofibrosarcoma 44
578 CNV002 Conversion Disorder 42
579 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 36
580 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 36
581 c CHR653 Charcot-Marie-Tooth Disease, Demyelinating, Type 1d 36
582 CRT081 Cortical Dysplasia, Complex, with Other Brain Malformations 7 35
583 c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 34
584 c CHR656 Charcot-Marie-Tooth Disease, Demyelinating, Type 1f 33
585 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 32
586 c TRC101 Trichothiodystrophy 4, Nonphotosensitive 29
587 P DST101 Distal Hereditary Motor Neuropathies 28
588 VST006 Vestibulocochlear Nerve Disease 28
589 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
590 3MT022 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia 27
591 NRS005 Neurosarcoidosis 25
592 WSM002 Waisman Syndrome 24
593 MNT307 Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 24
594 c TRC103 Trichothiodystrophy 5, Nonphotosensitive 22
595 c TRC117 Trichothiodystrophy 6, Nonphotosensitive 20
596 c NRB015 Neuroblastoma 2 20
597 c CRB195 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 19
598 CMP082 Complex Cortical Dysplasia with Other Brain Malformations 16
599 c NRN042 Neuronopathy, Distal Hereditary Motor, Type Ix 13
600 LYM055 Lyme Disease - Neurological Complications 6
601 c INT097 Intracranial Aneurysms Multiple Congenital Anomaly 3
602 P HNT016 Huntington Disease 70
603 c CNT035 Central Nervous System Disease 63
604 NRS003 Neurosyphilis 45
605 EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 44
606 c HNT004 Huntington Disease-Like 2 39
607 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 38
608 P GST047 Gastrointestinal Neuroendocrine Tumor 32
609 c JVN015 Juvenile Huntington Disease 29
610 46X053 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 29
611 P FRT001 Fourth Cranial Nerve Palsy 28
612 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 28
613 c HNT010 Huntington Disease-Like 1 27
614 SPN043 Spinal Cord Glioma 27
615 c NRP055 Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive 26
616 ABC001 Abcd Syndrome 26
617 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 26
618 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 25
619 c MNT210 Mental Retardation, Autosomal Recessive 42 25
620 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 25
621 CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 24
622 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 23
623 NRL023 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 23
624 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 23
625 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 23
626 PRN033 Paraneoplastic Neurologic Disorders 22
627 CNG382 Congenital Cataracts, Hearing Loss, and Neurodegeneration 22
628 PRP075 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 22
629 NRD024 Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart 22
630 HMR018 Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 22
631 NRD031 Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 21
632 STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 21
633 c GNT040 Giant Axonal Neuropathy 2, Autosomal Dominant 21
634 MCR123 Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy 20
635 MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 19
636 SPN026 Spinal Cord Lymphoma 18
637 c HNT013 Huntington Disease-Like Syndrome 15
638 MCR286 Microcephaly-Intellectual Disability-Phalangeal and Neurological Anomalies Syndrome 12
639 CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 12
640 c HNT014 Huntington Disease-Like Syndrome Due to C9orf72 Expansions 9
641 CRV044 Cervical Hypertrichosis Peripheral Neuropathy 5
642 CL4005 Col4a1-Related Brain Small-Vessel Disease 4
643 ATY005 Atypical Teratoid Rhabdoid Tumor 62
644 P LTR001 Lateral Sclerosis 58
645 P ACR001 Aicardi-Goutieres Syndrome 56
646 SPN041 Spinal Cord Disease 51
647 P ATS366 Autism X-Linked 2 43
648 c ACR116 Aicardi-Goutieres Syndrome 1 43
649 SPR066 Superficial Siderosis 40
650 P CRN035 Cranial Nerve Palsy 40
651 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 39
652 c BRT038 Baraitser-Winter Syndrome 1 36
653 BRN005 Brain Glioblastoma Multiforme 35
654 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 34
655 c ACR088 Aicardi-Goutieres Syndrome 3 34
656 TRS001 Tarsal Tunnel Syndrome 33
657 c ACR092 Aicardi-Goutieres Syndrome 5 32
658 c ACR091 Aicardi-Goutieres Syndrome 4 32
659 P SPN410 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 31
660 c ACR090 Aicardi-Goutieres Syndrome 2 30
661 c PRM195 Primary Lateral Sclerosis, Juvenile 30
662 ATS251 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 29
663 NRG003 Neurogenic Arthropathy 29
664 c BRT039 Baraitser-Winter Syndrome 2 29
665 c ACR081 Aicardi-Goutieres Syndrome 6 28
666 BRN049 Brain Tumor, Childhood 28
667 HLS003 Helsmoortel-Van Der Aa Syndrome 27
668 c PRM092 Primary Lateral Sclerosis, Adult, 1 27
669 OCL003 Oculomotor Nerve Paralysis 27
670 c ACR084 Aicardi-Goutieres Syndrome 7 26
671 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 26
672 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 25
673 c CFF010 Coffin-Siris Syndrome 3 25
674 c MNT295 Mental Retardation, X-Linked, Syndromic 33 25
675 c MNT270 Mental Retardation, Autosomal Recessive 53 25
676 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 24
677 c MNT262 Mental Retardation, Autosomal Dominant 42 23
678 MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 22
679 CHL057 Childhood Brain Stem Glioma 22
680 c CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 22
681 CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 21
682 ARM006 Armfield X-Linked Mental Retardation Syndrome 21
683 c ATS268 Autism X-Linked 4 21
684 CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 20
685 c ATS367 Autism X-Linked 3 20
686 CRT073 Cortical Dysplasia, Complex, with Other Brain Malformations 5 20
687 c ATS365 Autism X-Linked 1 20
688 CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 20
689 CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 20
690 NRF025 Neurofibromatosis, Type Iii, Mixed Central and Peripheral 19
691 c ATS358 Autism X-Linked 6 19
692 NRD028 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 18
693 PRN063 Peroneal Nerve, Accessory Deep 16
694 CTR173 Cataract, Ataxia, Short Stature, and Mental Retardation 16
695 DFF020 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia 15
696 RDL001 Radial Nerve Lesion 14
697 c ATS177 Autism X-Linked 5 13
698 XLN174 X-Linked Non-Syndromic Sensorineural Deafness Type Dfn 12
699 NRV002 Nerve Fibre Bundle Defect 11
700 LNG002 Lung Combined Large Cell Neuroendocrine Carcinoma 11
701 TTL002 Total Third-Nerve Palsy 10
702 HGH030 High-Grade Neuroendocrine Carcinoma of the Cervix Uteri 10
703 SYN083 Syndromic X-Linked Intellectual Disability Shashi Type 9
704 DNM002 Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy 9
705 MLG073 Malignant Melanocytic Neoplasm of the Peripheral Nerve Sheath 9
706 MLG028 Malignant Neoplasm of Acoustic Nerve 8
707 HGH029 High-Grade Neuroendocrine Carcinoma of the Corpus Uteri 8
708 c OPT030 Optic Nerve Hypoplasia, Familial Bilateral 7
709 SPN022 Spinal Cord Neuroblastoma 7
710 CHL022 Childhood Central Nervous System Primitive Neuroectodermal Neoplasm 6
711 c ADL022 Adult Central Nervous System Primitive Neuroectodermal Neoplasm 6
712 ART040 Arthrogryposis Epileptic Seizures Migrational Brain Disorder 5
713 MBS003 Moebius Axonal Neuropathy Hypogonadism 4
714 TMR014 Tumor of Cranial and Spinal Nerves 3
715 LYM017 Lyme Disease 68
716 FMR003 Femoral Neuropathy 39
717 GLT018 Glut1 Deficiency Syndrome 1 37
718 ASY002 Asymptomatic Neurosyphilis 37
719 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 36
720 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 33
721 TBS001 Tabes Dorsalis 33
722 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 31
723 TRT002 Tertiary Neurosyphilis 29
724 c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 29
725 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 29
726 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 28
727 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 28
728 c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 27
729 c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 27
730 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 26
731 c MNT157 Mental Retardation, Autosomal Dominant 18 25
732 SCH074 Schuurs-Hoeijmakers Syndrome 24
733 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24
734 WHT019 White-Sutton Syndrome 24
735 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 24
736 CRT082 Cortical Dysplasia, Complex, with Other Brain Malformations 8 23
737 KHR001 Kahrizi Syndrome 22
738 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 21
739 PRT097 Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome 20
740 P CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 20
741 c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 19
742 P GLY106 Glycosylphosphatidylinositol Biosynthesis Defect 11 18
743 c GLY103 Glycosylphosphatidylinositol Biosynthesis Defect 15 18
744 c NRB014 Neuroblastoma 3 18
745 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 16
746 LCL011 Localized Hypertrophic Neuropathy 15
747 P NMN002 Niemann-Pick Disease 60
748 BRN071 Brain Injury 53
749 P TRC102 Trichothiodystrophy 1, Photosensitive 51
750 NRN008 Neuronal Intranuclear Inclusion Disease 44
751 P SPN042 Spinal Cord Ependymoma 40
752 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 36
753 MLG041 Malignant Triton Tumor 35
754 BRK009 Birk-Barel Mental Retardation Dysmorphism Syndrome 33
755 SPN185 Spinal Cord Infarction 32
756 TMT003 Temtamy Syndrome 31
757 c MNT185 Mental Retardation, Autosomal Dominant 7 28
758 MDR004 Madras Motor Neuron Disease 28
759 c MNT212 Mental Retardation, Autosomal Dominant 26 27
760 c MNT322 Mental Retardation, Autosomal Dominant 27 25
761 c CFF009 Coffin-Siris Syndrome 4 24
762 c MNT241 Mental Retardation, Autosomal Dominant 32 24
763 c MNT222 Mental Retardation, Autosomal Dominant 29 24
764 c CFF007 Coffin-Siris Syndrome 2 24
765 c MNT214 Mental Retardation, Autosomal Dominant 24 24
766 ENC047 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 24
767 P MNT298 Mental Retardation, X-Linked, Syndromic, 35 24
768 c MNT246 Mental Retardation, Autosomal Dominant 38 24
769 c MNT150 Mental Retardation, Autosomal Recessive 15 23
770 c MNT239 Mental Retardation, Autosomal Dominant 35 23
771 c MNT219 Mental Retardation, Autosomal Dominant 30 23
772 ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 23
773 c MNT226 Mental Retardation, Autosomal Dominant 31 23
774 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 23
775 c MNT321 Mental Retardation, Autosomal Recessive 37 23
776 CLN039 Cln4 Disease 22
777 c MNT238 Mental Retardation, Autosomal Dominant 34 22
778 c MNT159 Mental Retardation, Autosomal Dominant 19 22
779 c MNT211 Mental Retardation, Autosomal Dominant 23 22
780 c MNT245 Mental Retardation, Autosomal Dominant 36 22
781 c MNT236 Mental Retardation, Autosomal Dominant 39 21
782 MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 21
783 c MNT207 Mental Retardation, X-Linked, Syndromic 32 21
784 XGB001 Xia-Gibbs Syndrome 21
785 c MNT179 Mental Retardation, Autosomal Dominant 21 21
786 c MNT325 Mental Retardation, Autosomal Recessive 61 21
787 c MNT240 Mental Retardation, Autosomal Dominant 33 21
788 c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 20
789 c TRC100 Trichothiodystrophy 3, Photosensitive 20
790 c MNT154 Mental Retardation, Autosomal Recessive 14 20
791 MNT058 Mental Retardation, X-Linked, Syndromic, Turner Type 20
792 PDT043 Pediatric Acute-Onset Neuropsychiatric Syndrome 19
793 c MNT151 Mental Retardation, Autosomal Recessive 18 18
794 c MNT184 Mental Retardation, Autosomal Dominant 11 18
795 c MNT186 Mental Retardation, Autosomal Dominant 10 18
796 MNT057 Mental Retardation, X-Linked, Syndromic, Raymond Type 18
797 c TRC099 Trichothiodystrophy 2, Photosensitive 17
798 KRK002 Karak Syndrome 17
799 EPL170 Epilepsy-Aphasia Spectrum 16
800 NRD030 Neurodegeneration, Childhood-Onset, with Brain Atrophy 16
801 NRD026 Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies 16
802 PNC065 Pinched Nerve 16
803 NRD040 Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter 16
804 ICH006 Ichthyosis Alopecia Eclabion Ectropion Mental Retardation 6
805 PLT009 Pili Torti Developmental Delay Neurological Abnormalities 6
806 BRN069 Brain and Spinal Tumors 5
807 GTD002 Gatad2b-Associated Neurodevelopmental Disorder 5
808 NRL024 Neurological Complications of Aids 3
809 P ORT004 Orthostatic Intolerance 68
810 P MCR010 Microcephaly 57
811 c EPS042 Episodic Ataxia, Type 1 57
812 c EPS035 Episodic Ataxia, Type 2 54
813 ISC002 Ischemic Optic Neuropathy 47
814 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 44
815 c ATS275 Autosomal Recessive Primary Microcephaly 42
816 PLX002 Plexiform Neurofibroma 40
817 c EPS017 Episodic Ataxia, Type 6 37
818 DYS006 Dysembryoplastic Neuroepithelial Tumor 37
819 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 35
820 P MYC078 Myoclonus and Ataxia 34
821 BRN036 Brain Stem Infarction 34
822 ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 31
823 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 30
824 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 30
825 c EPS015 Episodic Ataxia, Type 7 30
826 c EPS037 Episodic Ataxia, Type 4 30
827 c MCR329 Microcephaly, Autosomal Dominant 29
828 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 28
829 MLS013 Miles-Carpenter Syndrome 28
830 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 28
831 c CHR113 Charcot-Marie-Tooth Neuropathy Type 1 27
832 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 26
833 P BRN030 Brain Ependymoma 25
834 HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 25
835 BRN011 Brain Stem Astrocytic Neoplasm 25
836 HNM002 Hinman Syndrome 25
837 BRK011 Brooks-Wisniewski-Brown Syndrome 25
838 ATY030 Atypical Pantothenate Kinase-Associated Neurodegeneration 24
839 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 24
840 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 24
841 P MNT198 Mental Retardation, X-Linked 98 23
842 c CHR622 Charcot-Marie-Tooth Disease Type 2a2 23
843 SML004 Small Intestine Neuroendocrine Neoplasm 23
844 NRP048 Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration 23
845 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 23
846 c EPS014 Episodic Ataxia, Type 3 22
847 OVR005 Ovarian Large-Cell Neuroendocrine Carcinoma 22
848 c MNT191 Mental Retardation, X-Linked, Syndromic 17 22
849 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 22
850 c MCR320 Microcephaly 17, Primary, Autosomal Recessive 22
851 c MCR269 Microcephaly 15, Primary, Autosomal Recessive 22
852 c EPS033 Episodic Ataxia, Type 8 22
853 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 22
854 MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 21
855 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 21
856 OLF004 Olfactory Nerve Neoplasm 21
857 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 20
858 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 20
859 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 20
860 MTR031 Motor Neuro-Ophthalmic Disorders 20
861 c EPS034 Episodic Ataxia, Type 5 20
862 c MCR255 Microcephaly 9, Primary, Autosomal Recessive 20
863 MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 19
864 c MCR238 Microcephaly 7, Primary, Autosomal Recessive 19
865 MNT320 Mental Retardation, Autosomal Dominant 6, with or Without Seizures 19
866 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 19
867 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 19
868 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 18
869 MNT283 Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly 18
870 CNT029 Central Nervous System Endodermal Sinus Tumor 18
871 c CHR344 Chronic Orthostatic Intolerance 18
872 MCR333 Microcephaly, Seizures, Spasticity, and Brain Calcifications 18
873 c ADL054 Adult Brain Stem Glioma 18
874 c VSC054 Visceral Neuropathy, Familial, Autosomal Recessive 18
875 NRD004 Neurodegeneration Due to Cerebral Folate Transport Deficiency 18
876 MNT257 Mental Retardation, X-Linked, with Craniofacial Dysmorphism 17
877 FLL034 Fallot Complex with Severe Mental and Growth Retardation 17
878 c MCR356 Microcephaly 19, Primary, Autosomal Recessive 17
879 ABD008 Abidi X-Linked Mental Retardation Syndrome 16
880 MTR078 Motor Neuropathy, Peripheral, with Dysautonomia 16
881 CHL003 Childhood Spinal Cord Tumor 16
882 LRY013 Laryngeal Neuroendocrine Tumor 16
883 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 15
884 BNP001 Bone Peripheral Neuroepithelioma 15
885 CRN293 Craniosynostosis-Mental Retardation-Clefting Syndrome 15
886 NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 15
887 c MCR360 Microcephaly 20, Primary, Autosomal Recessive 15
888 IDP022 Idiopathic Spinal Cord Herniation 14
889 SPN007 Spinal Cord Oligodendroglioma 12
890 c GSR001 Gosr2-Related Progressive Myoclonus Ataxia 12
891 c MCR362 Microcephaly 22, Primary, Autosomal Recessive 12
892 c MCR361 Microcephaly 21, Primary, Autosomal Recessive 12
893 XLN023 X-Linked Mental Retardation Craniofacial Abnormal Microcephaly Club 11
894 c VSC056 Visceral Neuropathy, Familial, Autosomal Dominant 11
895 FCL002 Facial Nerve Neoplasm 11
896 VGS002 Vagus Nerve Neoplasm 11
897 SYN081 Syndromic X-Linked Intellectual Disability Abidi Type 11
898 BRN025 Brainstem Intraparenchymal Clear Cell Meningioma 10
899 NRD042 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy 10
900 c MCR363 Microcephaly 23, Primary, Autosomal Recessive 10
901 ANL010 Anal Neuroendocrine Tumor 9
902 ADL035 Adult Spinal Cord Glioblastoma Multiforme 9
903 ADL021 Adult Brainstem Gliosarcoma 9
904 SYN090 Syndromic X-Linked Intellectual Disability Turner Type 9
905 TRG004 Trigeminal Nerve Neoplasm 8
906 ATS388 Autosomal Dominant Non-Syndromic Intellectual Disability 6 8
907 CRN032 Cranial Nerve Iii Tumor 8
908 HYP079 Hypoglossal Nerve Neoplasm 8
909 TRC009 Trochlear Nerve Neoplasm 8
910 CNG458 Congenital Abducens Nerve Palsy 7
911 CHL055 Childhood Germ Cell Brain Tumor 7
912 PRM283 Primitive Neuroectodermal Tumor of the Corpus Uteri 7
913 ADL003 Adult Brainstem Mixed Glioma 7
914 SPN003 Spinal Cord Dermoid Cyst 7
915 ABD001 Abducens Nerve Neoplasm 7
916 GLS002 Glossopharyngeal Nerve Neoplasm 7
917 MLG027 Malignant Oculomotor Nerve Tumor 7
918 SPN001 Spinal Accessory Nerve Neoplasm 7
919 CLS051 Classic Neuroendocrine Tumor of Appendix 7
920 ALZ051 Alzheimer Disease Without Neurofibrillary Tangles 6
921 CHL005 Childhood Mediastinal Neurogenic Tumor 6
922 ARN002 Arnold Stickler Bourne Syndrome 5
923 NRL012 Neurological Manifestations of Pompe Disease 5
924 P BNG037 Benign Angiitis of the Central Nervous System 4
925 VSC023 Vasculitis Syndromes of the Central and Peripheral Nervous Systems 4
926 THM007 Thumb Stiff Brachydactyly Mental Retardation 4
927 PST045 Post-Streptococcal Neurologic Disorders 3
928 c SPN294 Spinocerebellar Ataxia 1 58
929 P SPN301 Spinocerebellar Ataxia 2 56
930 c SPN291 Spinocerebellar Ataxia 7 53
931 P GLM040 Glioma Susceptibility 1 52
932 SPN020 Spondylosis 51
933 PRR007 Perry Syndrome 50
934 c RBN021 Rubinstein-Taybi Syndrome 1 49
935 c SPN309 Spinocerebellar Ataxia 6 49
936 c SPN293 Spinocerebellar Ataxia 12 48
937 c SPN314 Spinocerebellar Ataxia 10 47
938 c SPN312 Spinocerebellar Ataxia 14 46
939 c SPN296 Spinocerebellar Ataxia 17 46
940 OPT007 Optic Nerve Glioma 46
941 c SPN100 Spinocerebellar Ataxia 27 45
942 c SPN305 Spinocerebellar Ataxia 11 43
943 c SPN265 Spinocerebellar Ataxia 36 42
944 c SPN290 Spinocerebellar Ataxia 15 40
945 c SPN103 Spinocerebellar Ataxia 31 40
946 c SPN106 Spinocerebellar Ataxia 5 40
947 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40
948 c SPN308 Spinocerebellar Ataxia 28 39
949 NRM006 Neuromuscular Junction Disease 39
950 BRC011 Brachial Plexus Neuropathy 39
951 c SPN304 Spinocerebellar Ataxia 8 38
952 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 37
953 MNN028 Mononeuropathy of the Median Nerve, Mild 37
954 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 37
955 c SPN097 Spinocerebellar Ataxia 23 37
956 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 37
957 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 37
958 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 36
959 c SPN299 Spinocerebellar Ataxia 20 36
960 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 35
961 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 34
962 P SPS008 Spastic Ataxia 33
963 NRT011 Neurotrophic Keratopathy 33
964 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 32
965 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 32
966 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 32
967 c SPN266 Spinocerebellar Ataxia 35 32
968 c SPN101 Spinocerebellar Ataxia 29 32
969 PDN001 Pudendal Neuralgia 32
970 NRF016 Neurofibromatosis, Familial Spinal 31
971 ULN001 Ulnar Neuropathy 31
972 c SPN095 Spinocerebellar Ataxia 19 31
973 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 31
974 c SPN099 Spinocerebellar Ataxia 26 31
975 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 30
976 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 30
977 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 30
978 c SPN104 Spinocerebellar Ataxia 34 29
979 c RBN008 Rubinstein-Taybi Syndrome 2 29
980 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 29
981 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 28
982 P PRS124 Presynaptic Congenital Myasthenic Syndromes 28
983 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 27
984 c SPN383 Spinocerebellar Ataxia 42 27
985 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 27
986 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
987 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 27
988 c SPN098 Spinocerebellar Ataxia 25 27
989 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 27
990 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 27
991 c SPS072 Spastic Ataxia 1, Autosomal Dominant 27
992 c SPN247 Spinocerebellar Ataxia Type 19/22 27
993 c SPN283 Spinocerebellar Ataxia 37 27
994 c SPS212 Spastic Ataxia 5, Autosomal Recessive 27
995 c SPN284 Spinocerebellar Ataxia 38 27
996 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 26
997 c SPN372 Spinocerebellar Ataxia 43 26
998 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 26
999 MTC055 Mitochondrial Dna Depletion Syndrome 4b 26
1000 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
1001 c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 25
1002 SPR032 Superficial Siderosis of the Central Nervous System 25
1003 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 25
1004 c MNT158 Mental Retardation, Autosomal Dominant 22 25
1005 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 25
1006 MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 24
1007 c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 24
1008 c SPN286 Spinocerebellar Ataxia 40 24
1009 c SPS142 Spastic Ataxia 2, Autosomal Recessive 23
1010 c SPS208 Spastic Ataxia 4, Autosomal Recessive 23
1011 HRT037 Heart and Brain Malformation Syndrome 23
1012 c SPS136 Spastic Ataxia 3, Autosomal Recessive 23
1013 c SPN323 Spinocerebellar Ataxia 41 23
1014 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 22
1015 c MNT183 Mental Retardation, Autosomal Recessive 36 22
1016 c MNT273 Mental Retardation, Autosomal Dominant 44 22
1017 ANT066 Anterior Cutaneous Nerve Entrapment Syndrome 22
1018 c MNT248 Mental Retardation, X-Linked 102 22
1019 c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 22
1020 c SPN259 Spinocerebellar Ataxia 32 21
1021 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 21
1022 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 21
1023 c SPN419 Spinocerebellar Ataxia 45 20
1024 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 20
1025 c SPS191 Spastic Ataxia 7, Autosomal Dominant 20
1026 c SPN418 Spinocerebellar Ataxia 44 20
1027 CHR655 Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive 20
1028 c SPN102 Spinocerebellar Ataxia 30 20
1029 c SPN107 Spinocerebellar Ataxia 9 19
1030 ENC050 Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 19
1031 c MNT224 Mental Retardation, X-Linked 101 19
1032 c MNT218 Mental Retardation, X-Linked 99 18
1033 ENC059 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity 17
1034 c SPN421 Spinocerebellar Ataxia 47 17
1035 NRD023 Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language 17
1036 P ALP076 Alopecia-Mental Retardation Syndrome 1 17
1037 c GLM047 Glioma Susceptibility 3 17
1038 c MNT223 Mental Retardation, X-Linked 100 17
1039 c SPN336 Spinocerebellar Ataxia Type 16 17
1040 PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 16
1041 c MNT294 Mental Retardation, X-Linked 106 16
1042 c GLM043 Glioma Susceptibility 9 15
1043 BCK018 Bickerstaff Brainstem Encephalitis 15
1044 c GLM025 Glioma Susceptibility 2 15
1045 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 15
1046 SPN004 Spinal Cord Lipoma 14
1047 c SPS214 Spastic Ataxia 4 9
1048 c SPS171 Spastic Ataxia 5 9
1049 c GRD008 Grid2-Related Spinocerebellar Ataxia 9
1050 c GLM019 Glioma Susceptibility 4 9
1051 c GLM021 Glioma Susceptibility 6 9
1052 c GLM022 Glioma Susceptibility 8 9
1053 c SPS162 Spastic Ataxia 1 8
1054 c SPS163 Spastic Ataxia 3 8
1055 c GLM020 Glioma Susceptibility 5 8
1056 c GLM038 Glioma Susceptibility 7 8
1057 c SPS170 Spastic Ataxia 2 7
1058 c SPS229 Spastic Ataxia 8 7
1059 c SPS172 Spastic Ataxia 7 7
1060 MDS014 Mediastinum Neuroblastoma 6
1061 P RBN007 Rubinstein Taybi Like Syndrome 5
1062 MTR033 Motor Sensory Neuropathy Type 1 Aplasia Cutis Congenita 3
1063 P NRP001 Neuropathy 63
1064 P ENC018 Encephalopathy 62
1065 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 60
1066 ATN005 Autonomic Dysfunction 50
1067 ATN004 Autonomic Neuropathy 46
1068 MDL002 Medulloepithelioma 45
1069 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 45
1070 BRN080 Brain Ischemia 44
1071 BRN032 Brain Glioma 43
1072 EST003 Eastern Equine Encephalitis 41
1073 P PNT019 Pontocerebellar Hypoplasia 41
1074 c PNT034 Pontocerebellar Hypoplasia, Type 2e 40
1075 c PNT036 Pontocerebellar Hypoplasia, Type 6 40
1076 c PNT049 Pontocerebellar Hypoplasia, Type 2d 40
1077 c PNT018 Pontocerebellar Hypoplasia, Type 1b 37
1078 P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 36
1079 PLM039 Pulmonary Neuroendocrine Tumor 36
1080 c PNT010 Pontocerebellar Hypoplasia Type 1 35
1081 TRG003 Trigeminal Nerve Disease 35
1082 VST001 Vestibular Neuronitis 34
1083 GLS004 Glossopharyngeal Neuralgia 34
1084 CHR543 Chromosome 2q37 Deletion Syndrome 34
1085 P SCH017 Schindler Disease 33
1086 c PNT045 Pontocerebellar Hypoplasia, Type 1a 33
1087 c CHR670 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 33
1088 ATN003 Autonomic Nervous System Neoplasm 33
1089 c PNT037 Pontocerebellar Hypoplasia, Type 3 32
1090 c PNT044 Pontocerebellar Hypoplasia, Type 2a 31
1091 c PNT033 Pontocerebellar Hypoplasia, Type 10 31
1092 c PNT035 Pontocerebellar Hypoplasia, Type 1c 30
1093 c PNT043 Pontocerebellar Hypoplasia, Type 4 30
1094 PLY158 Polyglucosan Body Neuropathy, Adult Form 29
1095 c PNT032 Pontocerebellar Hypoplasia, Type 9 29
1096 c PNT046 Pontocerebellar Hypoplasia, Type 5 28
1097 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 27
1098 c MNT145 Mental Retardation, Autosomal Recessive 5 26
1099 BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 26
1100 c RHB011 Rhabdoid Tumor Predisposition Syndrome 2 26
1101 ZTT001 Zttk Syndrome 25
1102 c MNT280 Mental Retardation, Autosomal Dominant 43 25
1103 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
1104 c PNT039 Pontocerebellar Hypoplasia, Type 7 25
1105 MND023 Mend Syndrome 25
1106 c PNT048 Pontocerebellar Hypoplasia, Type 2c 24
1107 c PNT047 Pontocerebellar Hypoplasia, Type 2b 24
1108 c MNT166 Mental Retardation, Autosomal Recessive 39 24
1109 c MNT213 Mental Retardation, Autosomal Recessive 40 24
1110 c MNT242 Mental Retardation, Autosomal Dominant 40 23
1111 OHD003 Ohdo Syndrome, X-Linked 23
1112 c PNT050 Pontocerebellar Hypoplasia, Type 11 23
1113 c MNT216 Mental Retardation, Autosomal Recessive 41 23
1114 c MNT176 Mental Retardation, Autosomal Recessive 38 23
1115 LSN001 Lesion of Sciatic Nerve 23
1116 ALC002 Alcohol-Related Neurodevelopmental Disorder 22
1117 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 22
1118 c MNT221 Mental Retardation, Autosomal Recessive 44 22
1119 c MNT244 Mental Retardation, Autosomal Recessive 49 21
1120 c MNT227 Mental Retardation, Autosomal Recessive 46 21
1121 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
1122 c MNT177 Mental Retardation, Autosomal Recessive 27 21
1123 c MNT323 Mental Retardation, Autosomal Dominant 48 21
1124 c MNT234 Mental Retardation, Autosomal Recessive 48 20
1125 c MNT220 Mental Retardation, Autosomal Recessive 45 20
1126 ENC046 Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy 20
1127 c MNT328 Mental Retardation, Autosomal Dominant 52 20
1128 c MNT215 Mental Retardation, Autosomal Recessive 43 20
1129 c MNT225 Mental Retardation, Autosomal Recessive 47 20
1130 c MNT272 Mental Retardation, Autosomal Dominant 41 19
1131 c MNT324 Mental Retardation, Autosomal Dominant 49 19
1132 c MNT329 Mental Retardation, Autosomal Dominant 53 19
1133 c MNT286 Mental Retardation, Autosomal Dominant 45 18
1134 c MNT327 Mental Retardation, Autosomal Dominant 51 18
1135 BRN007 Brain Oligodendroglioma 18
1136 c MNT264 Mental Retardation, Autosomal Recessive 52 18
1137 c MNT330 Mental Retardation, Autosomal Dominant 54 18
1138 c MNT326 Mental Retardation, Autosomal Dominant 50 18
1139 c MNT279 Mental Retardation, Autosomal Dominant 47 18
1140 NRD029 Neurodevelopmental Disorder with Involuntary Movements 18
1141 c MNT243 Mental Retardation, Autosomal Recessive 50 18
1142 c MNT278 Mental Retardation, Autosomal Dominant 46 17
1143 AMM001 Amme Complex 16
1144 c MNT195 Mental Retardation, X-Linked 96 15
1145 MNT107 Mental Retardation, Fra12a Type 14
1146 c MNT332 Mental Retardation, Autosomal Dominant 56 14
1147 NRP058 Neuropathy, Hereditary Sensory, X-Linked 12
1148 NRD038 Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy 12
1149 NRP057 Neuropathy, Hereditary Sensory, Atypical 11
1150 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 10
1151 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 8
1152 CLP007 Clpb Deficiency 7
1153 SCR027 Sacral Nerve Root Cysts 6
1154 NRL011 Neurological Consequences of Cytomegalovirus Infection 3
1155 ANX010 Anxiety 72
1156 OBS002 Obsessive-Compulsive Disorder 66
1157 HMR039 Hemorrhage, Intracerebral 57
1158 BRN004 Brain Edema 55
1159 GLM004 Gliomatosis Cerebri 52
1160 NRM004 Neuroma 51
1161 P SYP003 Syphilis 51
1162 CRB090 Cerebral Hypoxia 46
1163 CNT046 Central Nervous System Vasculitis 45
1164 NNT033 Neonatal Hypoxic and Ischemic Brain Injury 43
1165 DBT002 Diabetic Autonomic Neuropathy 43
1166 CRB033 Cerebral Degeneration 42
1167 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 42
1168 c NMN016 Niemann-Pick Disease, Type B 42
1169 CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 41
1170 OHD004 Ohdo Syndrome 40
1171 c SCN006 Secondary Syphilis 40
1172 c CNG033 Congenital Syphilis 40
1173 NRX001 Neuroaxonal Dystrophy 40
1174 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 38
1175 FCL011 Facial Nerve Disease 36
1176 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 35
1177 SPN018 Spinal Cord Astrocytoma 34
1178 PRM205 Primary Hepatic Neuroendocrine Carcinoma 34
1179 c MLT009 Multiple Cranial Nerve Palsy 32
1180 PRN016 Peroneal Neuropathy 32
1181 PLM038 Pulmonary Large Cell Neuroendocrine Carcinoma 32
1182 CNT041 Central Nervous System Melanocytic Neoplasm 31
1183 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 31
1184 c PRM022 Primary Syphilis 31
1185 P CNT093 Central Nervous System Teratoma 30
1186 SMT020 Smith-Kingsmore Syndrome 30
1187 c CNG031 Congenital Nervous System Abnormality 30
1188 EPT008 Epithelioid Malignant Peripheral Nerve Sheath Tumor 29
1189 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 29
1190 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 27
1191 ISC001 Ischemic Neuropathy 27
1192 c SNS009 Sensory Neuropathy Type 1 27
1193 CKS001 Ck Syndrome 26
1194 BRN008 Brain Compression 25
1195 NRS001 Neuroschistosomiasis 25
1196 MNN005 Meningovascular Neurosyphilis 25
1197 CNT023 Central Nervous System Hemangioma 25
1198 c LTC001 Late Congenital Syphilis 25
1199 EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 24
1200 c ERL002 Early Congenital Syphilis 24
1201 FST001 Foster-Kennedy Syndrome 23
1202 PRN008 Peroneal Nerve Paralysis 23
1203 LKN024 Leukoencephalopathy, Brain Calcifications, and Cysts 23
1204 ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 23
1205 P CNT044 Central Nervous System Primitive Neuroectodermal Neoplasm 22
1206 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 22
1207 BRN021 Brain Sarcoma 22
1208 ILL008 Ileal Neuroendocrine Tumor 22
1209 BRN031 Brain Germinoma 22
1210 AKL001 Au-Kline Syndrome 22
1211 HLL013 Hall-Riggs Mental Retardation Syndrome 22
1212 TBL007 Tibial Neuropathy 22
1213 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 21
1214 ESP009 Esophageal Neuroendocrine Tumor 21
1215 RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 20
1216 GMS002 Gms Syndrome 20
1217 ULN002 Ulnar Nerve Lesion 20
1218 P NNP004 Nonphotosensitive Trichothiodystrophy 20
1219 NRN045 Neuroendocrine Neoplasm of Appendix 20
1220 BLP044 Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 19
1221 c CHR115 Charcot-Marie-Tooth Neuropathy Type 2a 19
1222 YLK002 Yolk Sac Tumor of Central Nervous System 19
1223 INT022 Intracranial Primitive Neuroectodermal Tumor 19
1224 BRS005 Breast Neuroendocrine Neoplasm 18
1225 c INF044 Infantile Axonal Neuropathy 18
1226 PBL004 Piebald Trait with Neurologic Defects 17
1227 RJB001 Rajab Syndrome 17
1228 PTR031 Pterygium Colli and Mental Retardation with Facial and Digital Anomalies 17
1229 WLF012 Wolff Mental Retardation Syndrome 17
1230 ULN022 Ulnar Hypoplasia with Mental Retardation 16
1231 OVR004 Ovary Neuroendocrine Neoplasm 16
1232 LMB066 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 16
1233 c MNT204 Mental Retardation, X-Linked 23 15
1234 JJN009 Jejunal Neuroendocrine Tumor 15
1235 NRC007 Neuroectodermal Endocrine Syndrome 15
1236 SPN347 Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 15
1237 HYP687 Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy 15
1238 ADN078 Adnp Syndrome 15
1239 SPS218 Spastic Diplegia and Mental Retardation 15
1240 c MNT202 Mental Retardation, X-Linked 53 15
1241 c GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 15
1242 SCH022 Schimke X-Linked Mental Retardation Syndrome 15
1243 VSC048 Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome 15
1244 GLS008 Glossopharyngeal Nerve Disease 15
1245 SPN025 Spinal Cord Melanoma 15
1246 HYP183 Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features 15
1247 CNG457 Congenital Oculomotor Nerve Palsy 15
1248 P MNT312 Mental Health Wellness 1 14
1249 PRS131 Prostate Cancer/brain Cancer Susceptibility 14
1250 NRP047 Neuropathy, Hereditary Thermosensitive 14
1251 BRN027 Brain Angioma 14
1252 OCL024 Ocular Neuromyotonia 14
1253 NRD050 Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities 14
1254 SPR039 Supratentorial Primitive Neuroectodermal Tumors, Childhood 14
1255 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 14
1256 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 14
1257 c ATS261 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 14
1258 CRB198 Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome 13
1259 NRP006 Neuropathy, Congenital, with Arthrogryposis Multiplex 13
1260 EFV001 Efavirenz, Poor Metabolism of 13
1261 CNG362 Congenital Trochlear Nerve Palsy 12
1262 ATN001 Autonomic Peripheral Neuropathy 12
1263 PLY113 Polyneuropathy Associated with Igm Monoclonal Gammapathy with Anti-Mag 12
1264 NRD049 Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or Without Seizures 11
1265 CLN014 Colon Neuroendocrine Neoplasm 11
1266 c NRB012 Neuroblastoma 5 11
1267 P FTL014 Fetal Brain Disruption Sequence 11
1268 MNT311 Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration 11
1269 PRS017 Prostate Neuroendocrine Neoplasm 11
1270 OST048 Osteopetrosis and Infantile Neuroaxonal Dystrophy 11
1271 c CHR120 Charcot-Marie-Tooth Neuropathy X Type 1 11
1272 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 11
1273 c NRB011 Neuroblastoma 4 11
1274 c PMP012 Pmp2-Related Charcot-Marie-Tooth Disease Type 1 10
1275 P NRP005 Neuropathy Sensory Spastic Paraplegia 10
1276 KCN019 Kcnk9 Imprinting Syndrome 10
1277 c DNM001 Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy 10
1278 PRP096 Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 10
1279 c NRB013 Neuroblastoma 6 10
1280 c NRB016 Neuroblastoma 7 10
1281 SPN002 Spinal Cord Intramedullary Teratoma 9
1282 SPN024 Spinal Cord Sarcoma 9
1283 RNL088 Renal Cell Carcinoma Associated with Neuroblastoma 9
1284 CRB010 Cerebellopontine Angle Primitive Neuroectodermal 9
1285 SNL005 Senile Degeneration of Brain 8
1286 SYN093 Syndromic X-Linked Intellectual Disability Raymond Type 8
1287 ATM073 Autoimmune-Related Retinopathy and Optic Neuropathy 8
1288 SCH001 Schwannoma of Twelfth Cranial Nerve 8
1289 CHL017 Childhood Brain Meningioma 8
1290 NRF001 Neurofibroma of Spinal Cord 8
1291 ATS389 Autosomal Dominant Non-Syndromic Intellectual Disability 8 8
1292 NRF006 Neurofibroma of the Heart 8
1293 MLG125 Malignant Mediastinal Neurogenic Neoplasm 8
1294 SFT001 Soft Tissue Peripheral Neuroepithelioma 8
1295 c SVR017 Severe Infantile Axonal Neuropathy 8
1296 c ADL036 Adult Central Nervous System Germinoma 7
1297 MLG057 Malignant Cardiac Peripheral Nerve Sheath Neoplasm 7
1298 CLL024 Colloid Cysts of Third Ventricle 7
1299 NRF005 Neurofibroma of Gallbladder 7
1300 c MNT313 Mental Health Wellness 2 7
1301 HRD181 Hereditary Neuroendocrine Tumor of Small Intestine 7
1302 c ADL055 Adult Central Nervous System Teratoma 7
1303 NSL005 Nasal Cavity Olfactory Neuroblastoma 7
1304 PLN002 Plantar Nerve Lesion 6
1305 NRV001 Nerve Root Neoplasm 6
1306 BRN023 Brain Stem Ependymoma 6
1307 CTS013 Cutis Verticis Gyrata Mental Deficiency 6
1308 INF155 Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome 6
1309 c GDP003 Gdap1-Related Hereditary Motor and Sensory Neuropathy 6
1310 CNT013 Central Nervous System Leiomyoma 6
1311 CHL051 Childhood Brain Germinoma 6
1312 CHL053 Childhood Brainstem Astrocytoma 6
1313 ADL004 Adult Brainstem Astrocytoma 6
1314 BRN020 Brain Stem Angioblastoma 6
1315 CRV019 Cervical Spinal Canal and Spinal Cord Meningioma 6
1316 c MLT014 Multiple Spinal Canal and Spinal Cord Meningioma 6
1317 LMB007 Lumbar Spinal Canal and Spinal Cord Meningioma 6
1318 SCR007 Sacral Spinal Canal and Spinal Cord Meningioma 6
1319 THR008 Thoracic Spinal Canal and Spinal Cord Meningioma 6
1320 INT252 Intestinal Neuroendocrine Benign Tumor 6
1321 NRN043 Neuroendocrine Neoplasm of Esophagus 6
1322 BLT005 Bilateral Meningioma of Optic Nerve 6
1323 MLG015 Malignant Melanocytic Peripheral Nerve Sheath Tumor of Mediastinum 6
1324 HYP234 Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 5
1325 MDS007 Mediastinum Neurofibroma 5
1326 SCM002 Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 5
1327 PTR009 Pterygium Colli Mental Retardation Digital Anomalies 5
1328 DFN009 Deafness Hyperuricemia Neurologic Ataxia 4
1329 HRD105 Hereditary Sensorimotor Neuropathy with Hyperelastic Skin 4
1330 NRV003 Nervous System Hibernoma 4
1331 CRN091 Craniosynostosis Alopecia Brain Defect 4
1332 CNG099 Congenital Heart Disease Radio Ulnar Synostosis Mental Retardation 3
1333 CRN100 Craniosynostosis Mental Retardation Heart Defects 3
1334 PRT057 Proteus Like Syndrome Mental Retardation Eye Defect 3
1335 LKM007 Leukomelanoderma Mental Redardation Hypotrichosis 3
1336 OST060 Osteosclerosis Abnormalities of Nervous System and Meninges 3
1337 EPL007 Epilepsy Mental Deterioration Finnish Type 3
1338 CRN064 Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation 3
1339 SZR004 Seizures Mental Retardation Hair Dysplasia 3
1340 DFN012 Deafness Mesenteric Diverticula of Small Bowel Neuropathy 3
1341 DFN018 Deafness Peripheral Neuropathy Arterial Disease 3
1342 DFN033 Deafness, Neurosensory Nonsyndromic Recessive, Dfn 3
1343 HRD059 Hereditary Peripheral Nervous Disorder 2
1344 CHR279 Chronic Demyelinizing Neuropathy with Igm Monoclonal 2
1345 FCL024 Focal or Multifocal Malformations in Neuronal Migration 2
1346 RTN074 Retinopathy Aplastic Anemia Neurological Abnormalities 2
1347 SPN084 Spinal Bulbar Motor Neuropathy 2
1348 SPS043 Spastic Paraplegia and Distal Muscle Wasting Caused by Neuropathy Target Esterase Gene Mutation 2
1349 P ATX030 Ataxia-Telangiectasia 79
1350 PST028 Post-Traumatic Stress Disorder 58
1351 RDC002 Radiculopathy 53
1352 ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53
1353 P AST007 Astrocytoma 51
1354 c CRB191 Cerebral Cavernous Malformations 2 49
1355 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 44
1356 NRN002 Neuronitis 41
1357 MTH074 Methionine Adenosyltransferase I/iii Deficiency 40
1358 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 38
1359 c CRB094 Cerebral Cavernous Malformations 3 37
1360 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 37
1361 ALC011 Alcoholic Neuropathy 31
1362 c HYP716 Hypermanganesemia with Dystonia 1 28
1363 BLB005 Beaulieu-Boycott-Innes Syndrome 26
1364 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 26
1365 PPL060 Papillary Glioneuronal Tumors 26
1366 HYP723 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 24
1367 RDL004 Radial Neuropathy 24
1368 MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 21
1369 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 21
1370 c HYP713 Hypermanganesemia with Dystonia 2 21
1371 c SPN420 Spinocerebellar Ataxia 46 21
1372 ACT181 Acute Motor Axonal Neuropathy 21
1373 c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 20
1374 HRL006 Harel-Yoon Syndrome 20
1375 c MNT275 Mental Retardation, Autosomal Recessive 60 20
1376 FGS004 Fg Syndrome 4 19
1377 c JVN001 Juvenile Astrocytoma 19
1378 FXL001 Foix-Alajouanine Syndrome 19
1379 OKR001 Okur-Chung Neurodevelopmental Syndrome 18
1380 P HYP821 Hypermanganesemia with Dystonia 18
1381 CRV067 Cervical Neuroblastoma 18
1382 c MNT271 Mental Retardation, X-Linked 61 18
1383 HYP646 Hypomagnesemia, Seizures, and Mental Retardation 17
1384 NRD027 Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset 17
1385 c MNT289 Mental Retardation, X-Linked 103 17
1386 SBN004 Sabinas Brittle Hair Syndrome 16
1387 c MNT267 Mental Retardation, X-Linked 104 15
1388 NRD039 Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language 15
1389 ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 14
1390 c MNT274 Mental Retardation, X-Linked 105 14
1391 NRD044 Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features 14
1392 NRD037 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies 14
1393 INT311 Intellectual Developmental Disorder with Neuropsychiatric Features 13
1394 MYP122 Myopathy, Congenital, with Neuropathy and Deafness 13
1395 MNT306 Mental Retardation, X-Linked, Syndromic, Houge Type 12
1396 CLF027 Cleft Palate, Isolated 63
1397 P MTR004 Maturity-Onset Diabetes of the Young 60
1398 SMT006 Somatoform Disorder 55
1399 P EPN002 Ependymoma 55
1400 c MLG064 Malignant Ependymoma 45
1401 STL001 St. Louis Encephalitis 43
1402 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 43
1403 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 41
1404 DPR002 Depersonalization Disorder 36
1405 c CNG191 Congenital Disorder of Glycosylation, Type Iia 36
1406 c BNG030 Benign Ependymoma 33
1407 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 29
1408 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 27
1409 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 26
1410 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 26
1411 RCH010 Richieri-Costa/guion-Almeida Syndrome 25
1412 c STR092 Striatal Degeneration, Autosomal Dominant 2 25
1413 RTR023 Retroperitoneal Neuroblastoma 25
1414 JWD001 Jawad Syndrome 24
1415 CRB196 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 24
1416 c MNT287 Mental Retardation, Autosomal Recessive 57 24
1417 ART103 Arthrogryposis, Mental Retardation, and Seizures 23
1418 P STR101 Striatal Degeneration, Autosomal Dominant 1 22
1419 SFR001 Sifrim-Hitz-Weiss Syndrome 22
1420 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 22
1421 c MNT282 Mental Retardation, Autosomal Recessive 55 22
1422 c ATM089 Autoimmune Neuropathy 22
1423 BRN134 Brain Malformations with or Without Urinary Tract Defects 22
1424 CMB002 Combat Disorder 22
1425 IMM146 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 22
1426 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 22
1427 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 21
1428 c MNT285 Mental Retardation, Autosomal Recessive 58 21
1429 c MLG023 Malignant Adult Ependymoma 20
1430 GNC005 Geniculate Ganglionitis 20
1431 CLF050 Cleft Palate, Cardiac Defects, and Mental Retardation 20
1432 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 19
1433 CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 19
1434 c MNT263 Mental Retardation, Autosomal Recessive 51 19
1435 CRB158 Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 19
1436 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 18
1437 c MNT197 Mental Retardation, X-Linked, Syndromic 9 18
1438 P NRN029 Neuronal Intestinal Dysplasia 18
1439 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 18
1440 c ATM007 Autoimmune Disease of Central Nervous System 18
1441 c MNT277 Mental Retardation, Autosomal Recessive 54 18
1442 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 18
1443 c MNT281 Mental Retardation, Autosomal Recessive 59 18
1444 c MNT284 Mental Retardation, Autosomal Recessive 56 17
1445 MNT118 Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 17
1446 NRD036 Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures 16
1447 SPN409 Spongiform Encephalopathy with Neuropsychiatric Features 16
1448 PRN006 Parenchymatous Neurosyphilis 15
1449 NRD025 Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations 14
1450 NRS002 Neuroaspergillosis 13
1451 NRD043 Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities 13
1452 c CSK002 Cask-Related Intellectual Disability 12
1453 NRD035 Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures 12
1454 MNT331 Mental Retardation, Autosomal Dominant 55, with Seizures 12
1455 c GNT045 Giant Axonal Neuropathy 2 11
1456 c SYN073 Syngap1-Related Intellectual Disability 11
1457 CNT002 Central Nervous System Angiosarcoma 9
1458 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 9
1459 c PPP001 Ppp2r5d-Related Intellectual Disability 8
1460 c ATS360 Autosomal Recessive Intellectual Disability 58 7
1461 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 7
1462 c TRR002 Trio-Related Intellectual Disability 7
1463 c WCR002 Wac-Related Intellectual Disability 7
1464 c SN3001 Sin3a-Related Intellectual Disability Syndrome 6
1465 P ATS403 Autosomal Dominant Intellectual Disability 40 6
1466 c ATS348 Autosomal Dominant Intellectual Disability 30 6
1467 BRN116 Brain Stem Medulloblastoma 6
1468 SML035 Small Intestine Carcinoid Neuroendocrine Tumor 5
1469 c ACS002 Acsl4-Related Intellectual Disability 4
1470 c ARX002 Arx-Related Intellectual Disability 4
1471 c DDX001 Ddx3x-Related Intellectual Disability 4
1472 P OLG002 Oligodendroglioma 59
1473 MNT002 Mental Depression 57
1474 c ADL023 Adult Medulloblastoma 54
1475 P DBT005 Diabetes Insipidus 54
1476 c CHR283 Chronic Inflammatory Demyelinating Polyneuropathy 52
1477 NRR001 Neuroretinitis 46
1478 P DMY001 Demyelinating Polyneuropathy 46
1479 HYP016 Hypochondriasis 42
1480 SCT001 Sciatic Neuropathy 42
1481 CRB002 Cerebral Primitive Neuroectodermal Tumor 39
1482 P CNT036 Central Nervous System Germ Cell Tumor 38
1483 P AXN001 Axonal Neuropathy 38
1484 c ADL008 Adult Oligodendroglioma 38
1485 LRG014 Large Cell Neuroendocrine Carcinoma 37
1486 NRD001 Neurodermatitis 37
1487 THY108 Thymic Neuroendocrine Tumor 36
1488 CRB022 Cerebellar Liponeurocytoma 36
1489 DFF012 Differentiating Neuroblastoma 35
1490 MXD026 Mixed Glioma 35
1491 BRN137 Bronchial Neuroendocrine Tumor 33
1492 MDN002 Median Neuropathy 32
1493 DFF029 Diffuse Large B-Cell Lymphoma of the Central Nervous System 31
1494 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 31
1495 ART110 Arteritic Anterior Ischemic Optic Neuropathy 31
1496 DDN005 Duodenal Somatostatinoma 31
1497 CLB026 Colobomatous Microphthalmia 30
1498 c HNT011 Huntington Disease-Like 3 30
1499 NRG001 Neurogenic Bowel 29
1500 ATY004 Atypical Neurofibroma 28
1501 HGH001 High Pressure Neurological Syndrome 28
1502 MGL033 Megalocornea-Mental Retardation Syndrome 28
1503 NRG005 Neurogenic Hypertension 28
1504 GRN006 Granulomatous Angiitis 26
1505 DRG004 Drug-Induced Mental Disorder 26
1506 EXT044 Extraventricular Neurocytoma 26
1507 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 25
1508 c SYN078 Syndromic X-Linked Intellectual Disability Type 10 24
1509 TXC008 Toxic Optic Neuropathy 24
1510 CNT043 Central Nervous System Organ Benign Neoplasm 23
1511 CLL006 Cellular Neurofibroma 23
1512 c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 23
1513 P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 23
1514 CNT042 Central Nervous System Mesenchymal Non-Meningothelial Tumor 23
1515 ALC013 Alcohol-Induced Mental Disorder 23
1516 MDR006 Moderate and Severe Traumatic Brain Injury 23
1517 NRP027 Neuropathy, Painful 23
1518 CRB169 Cerebellar Atrophy, Developmental Delay, and Seizures 22
1519 BRN034 Brain Meningioma 22
1520 CNT017 Central Nervous System Origin Vertigo 22
1521 P SYN064 Syndromic X-Linked Intellectual Disability 22
1522 c MNT181 Mental Retardation, Autosomal Recessive 35 22
1523 c GST091 Gastrointestinal Neuroendocrine Benign Tumor 22
1524 c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 21
1525 ALP085 Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 21
1526 MNT256 Mental Retardation, Buenos Aires Type 21
1527 YHV001 You-Hoover-Fong Syndrome 21
1528 c MCR272 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 20
1529 SPN368 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 20
1530 MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 20
1531 P SPN039 Spinal Canal and Spinal Cord Meningioma 20
1532 MLT011 Multiple Mucosal Neuroma 20
1533 NNS032 Non-Syndromic X-Linked Intellectual Disability 20
1534 TBL027 Tubulinopathy-Associated Dysgyria 20
1535 URM001 Uremic Neuropathy 19
1536 KNN010 Kennerknecht Syndrome 19
1537 c MNT162 Mental Retardation, Autosomal Recessive 24 19
1538 ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 19
1539 c MNT163 Mental Retardation, Autosomal Recessive 30 19
1540 PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 19
1541 c MNT172 Mental Retardation, Autosomal Recessive 25 18
1542 CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 18
1543 c MNT167 Mental Retardation, Autosomal Recessive 16 18
1544 CHR397 Chromosome Xp11.3 Deletion Syndrome 18
1545 HYP688 Hypospadias-Mental Retardation Syndrome 18
1546 c MNT165 Mental Retardation, Autosomal Recessive 28 18
1547 c MNT180 Mental Retardation, Autosomal Recessive 33 18
1548 P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 18
1549 MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 18
1550 ARL006 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 18
1551 c MNT182 Mental Retardation, Autosomal Recessive 19 18
1552 SPN344 Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 18
1553 BRC121 Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation 18
1554 BRN112 Brain Dopamine-Serotonin Vesicular Transport Disease 18
1555 NRN023 Neuroendocrine Cell Hyperplasia of Infancy 18
1556 INF036 Inflammatory and Toxic Neuropathy 17
1557 CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 17
1558 c MNT170 Mental Retardation, Autosomal Recessive 23 17
1559 c HRD156 Hereditary Central Diabetes Insipidus 17
1560 EXT008 Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor 17
1561 SDM003 Sodium Channelopathy-Related Small Fiber Neuropathy 17
1562 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 17
1563 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 17
1564 c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 17
1565 SPS226 Spastic Paraplegia, Ataxia, and Mental Retardation 17
1566 RSS027 Russell-Silver Syndrome, X-Linked 17
1567 DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 17
1568 MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 17
1569 SKL027 Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal 17
1570 NNP016 Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy 17
1571 c MNT161 Mental Retardation, Autosomal Recessive 29 17
1572 c CHR139 Charcot-Marie-Tooth Disease Type 2c 17
1573 CHM001 Cahmr Syndrome 17
1574 c MNT160 Mental Retardation, Autosomal Recessive 31 16
1575 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 16
1576 BRN122 Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome 16
1577 c NRN038 Neuronal Intestinal Dysplasia, Type B 16
1578 ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 16
1579 c SYN056 Syndromic X-Linked Intellectual Disability 7 16
1580 c MNT247 Mental Retardation, X-Linked 73 16
1581 HRD035 Hair Defect with Photosensitivity and Mental Retardation 16
1582 PRD033 Periodic Paralysis with Later-Onset Distal Motor Neuropathy 16
1583 ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 16
1584 ART029 Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 15
1585 NRL001 Neurilemmoma of the Fifth Cranial Nerve 15
1586 MNT030 Mental Retardation Syndrome, Belgian Type 15
1587 OPH013 Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency 15
1588 EHL082 Ehlers-Danlos Syndrome, Beasley-Cohen Type 15
1589 SPS195 Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 15
1590 CHR580 Choroid Plexus Calcification and Mental Retardation 15
1591 c ACQ034 Acquired Central Diabetes Insipidus 15
1592 MNT255 Mental Retardation and Psoriasis 15
1593 CCH008 Cochlear Nerve Deficiency 15
1594 GRW038 Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 15
1595 ECT104 Ectodermal Dysplasia with Mental Retardation and Syndactyly 15
1596 CRN103 Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 15
1597 MRF017 Marfanoid Mental Retardation Syndrome, Autosomal 15
1598 ADL042 Adult Malignant Schwannoma 15
1599 CHL033 Childhood Malignant Schwannoma 15
1600 c SYN082 Syndromic X-Linked Intellectual Disability 14 15
1601 PLT021 Pili Torti and Developmental Delay 14
1602 c MNT194 Mental Retardation, X-Linked 50 14
1603 CTS046 Cutis Verticis Gyrata and Mental Retardation 14
1604 c CHR550 Charcot-Marie-Tooth Disease Type 2n 14
1605 MNT315 Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 14
1606 c SPR105 Sporadic Fetal Brain Disruption Sequence 14
1607 ACT235 Acute Macular Neuroretinopathy 14
1608 NRN032 Neuroendocrine Tumor of Anal Canal 14
1609 ACT236 Acute Motor and Sensory Axonal Neuropathy 14
1610 ACT161 Acute Pandysautonomia 14
1611 GLL034 Gallbladder Neuroendocrine Tumor 14
1612 CHL027 Childhood Central Nervous System Germinoma 14
1613 CHL046 Childhood Central Nervous System Mixed Germ Cell Tumor 14
1614 SYN079 Syndromic X-Linked Intellectual Disability Siderius Type 14
1615 NTR002 Nutritional Optic Neuropathy 14
1616 RVN001 Ravine Syndrome 14
1617 EXT024 Extracranial Neuroblastoma 14
1618 THY092 Thymic Neuroendocrine Carcinoma 13
1619 STR102 Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Features 13
1620 HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 13
1621 SPS194 Spastic Paresis, Glaucoma, and Mental Retardation 13
1622 DWR021 Dwarfism, Mental Retardation, and Eye Abnormality 13
1623 MNT039 Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 13
1624 ACT162 Acute Sensory Ataxic Neuropathy 13
1625 INF124 Infundibulo-Neurohypophysitis 13
1626 CHR628 Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 13
1627 PRK068 Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments 13
1628 CRM012 Cree Mental Retardation Syndrome 13
1629 HYP816 Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes 13
1630 XLN204 X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome 13
1631 MBS006 Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 13
1632 MNT250 Mental Retardation with Spastic Paraplegia 13
1633 MNT316 Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 13
1634 NRL021 Neurologic Disease, Infantile Multisystem, with Osseous Fragility 12
1635 MND028 Mandibulofacial Dysostosis with Mental Retardation 12
1636 DFN340 Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease 12
1637 NRD046 Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities 12
1638 c SBC037 Subacute Inflammatory Demyelinating Polyneuropathy 12
1639 c MNT333 Mental Retardation, X-Linked 107 12
1640 SCL044 Scalp Syndrome 12
1641 SPS193 Spastic Paraplegia, Epilepsy, and Mental Retardation 12
1642 MTR081 Motor Neuron Disease with Dementia and Ophthalmoplegia 12
1643 MDN009 Median-Ulnar Nerve Communications 12
1644 c CHR553 Charcot-Marie-Tooth Disease Type 2q 12
1645 FCL076 Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 12
1646 CTR179 Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy 12
1647 NDL022 Nodular Neuronal Heterotopia 12
1648 MSC159 Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 11
1649 CRB178 Cerebellar Ataxia and Neurosensory Deafness 11
1650 c ALP075 Alopecia-Mental Retardation Syndrome 2 11
1651 c DST092 Distal Hereditary Motor Neuropathy Type 7 11
1652 SPN388 Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy 11
1653 ART149 Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies 11
1654 c MNT205 Mental Retardation, X-Linked 42 11
1655 PRN067 Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 11
1656 ART055 Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies 11
1657 c CHR551 Charcot-Marie-Tooth Disease Type 2o 11
1658 MDD017 Middle Ear Neuroendocrine Tumor 11
1659 AMY015 Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 11
1660 NRN039 Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 11
1661 LRY052 Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 11
1662 NRD045 Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills 11
1663 SPT020 Spatial Visualization, Aptitude for 11
1664 XLN092 X-Linked Neurodegenerative Syndrome, Bertini Type 11
1665 VTL010 Vitiligo, Progressive, with Mental Retardation and Urethral Duplication 11
1666 c PRM246 Primary Tethered Cord Syndrome 10
1667 SPN396 Spinal Muscular Atrophy with Mental Retardation 10
1668 NRP050 Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 10
1669 NRP061 Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia 10
1670 c ALP063 Alopecia-Mental Retardation Syndrome 3 10
1671 EPT006 Epithelioid Neurofibroma 10
1672 CTS047 Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation 10
1673 HYP783 Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 10
1674 c CHR571 Charcot-Marie-Tooth Disease Type 5 10
1675 XLN091 X-Linked Neurodegenerative Syndrome, Hamel Type 10
1676 SPN397 Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 10
1677 OPT029 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 10
1678 MNT299 Mental and Growth Retardation with Amblyopia 10
1679 LNT009 Lentiginosis, Centrofacial Neurodysraphic 10
1680 MLG153 Malignant Peripheral Nerve Sheath Tumor with Perineurial Differentiation 9
1681 c ADL041 Adult Spinal Cord Ependymoma 9
1682 MSC144 Muscular Atrophy, Malignant Neurogenic 9
1683 OHD002 Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant 9
1684 PRP018 Peripheral Nerve Schwannoma 9
1685 NRP052 Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine 9
1686 EPL197 Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation 9
1687 MYL068 Myelinated Optic Nerve Fibers 9
1688 ATS387 Autosomal Dominant Non-Syndromic Intellectual Disability 5 9
1689 P CRN291 Cranial Nerves, Recurrent Paresis of 9
1690 IND013 Indolylacroyl Glycinuria with Mental Retardation 9
1691 SCR041 Sucrosuria, Hiatus Hernia and Mental Retardation 9
1692 TBL001 Tibial Nerve Palsy 9
1693 DSL004 Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 9
1694 RCR030 Recurrent Idiopathic Neuroretinitis 9
1695 OPH019 Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 8
1696 OHD001 Ohdo Syndrome, Maat-Kievit-Brunner Type 8
1697 PSD115 Pseudouridinuria and Mental Defect 8
1698 IDP004 Idiopathic Peripheral Autonomic Neuropathy 8
1699 NRF004 Neurofibroma of the Esophagus 8
1700 PCN001 Pacinian Tumor 8
1701 JJN001 Jejunal Somatostatinoma 8
1702 GLS003 Glossopharyngeal Nerve Paralysis 8
1703 SYN091 Syndromic X-Linked Intellectual Disability Nascimento Type 8
1704 c CHR121 Charcot-Marie-Tooth Neuropathy X Type 5 8
1705 HYP778 Hypertrophic Neuropathy and Cataract 8
1706 c ATS394 Autosomal Dominant Mental Retardation 55 8
1707 c ATS395 Autosomal Dominant Mental Retardation 61 8
1708 c CRN290 Cranial Nerves, Congenital Paresis of 8
1709 NRD020 Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to 9q21 Microdeletion 8
1710 MDF003 Modifier, X-Linked, for Neurofunctional Defects 8
1711 c SYN077 Syndromic X-Linked Intellectual Disability 12 8
1712 c CHR315 Charcot-Marie-Tooth Neuropathy Type 4j 8
1713 CMM002 Common Peroneal Nerve Lesion 7
1714 CNT021 Central Nervous System Rhabdomyosarcoma 7
1715 HYP797 Hypotonia, Congenital Nystagmus, Ataxia, and Abnormal Auditory Brainstem Responses 7
1716 ATS383 Autosomal Dominant Non-Syndromic Intellectual Disability 1 7
1717 ATS390 Autosomal Dominant Non-Syndromic Intellectual Disability 9 7
1718 CRV015 Cervical Large Cell Neuroendocrine Carcinoma 7
1719 PRP089 Prp Systemic Amyloidosis 7
1720 NRV014 Neurovisceral Storage Disease with Curvilinear Bodies 7
1721 CNT027 Central Nervous System Fibrosarcoma 7
1722 P CNT039 Central Nervous System Immature Teratoma 7
1723 P CNT040 Central Nervous System Mature Teratoma 7
1724 ASY004 Asymmetric Motor Neuropathy 7
1725 SVR052 Severe Early-Onset Axonal Neuropathy Due to Mfn2 Deficiency 7
1726 CRT047 Creatine Kinase, Brain Type, Ectopic Expression of 7
1727 MCR344 Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 7
1728 NRH002 Neurohypophysis Granular Cell Tumor 7
1729 INF132 Infantile Osteopetrosis with Neuroaxonal Dysplasia 7
1730 ATS384 Autosomal Dominant Non-Syndromic Intellectual Disability 2 6
1731 ATS385 Autosomal Dominant Non-Syndromic Intellectual Disability 3 6
1732 ATS386 Autosomal Dominant Non-Syndromic Intellectual Disability 4 6
1733 HRD175 Hereditary Motor and Sensory Neuropathy with Acrodystrophy 6
1734 CMB029 Combined Hyperactive Dysfunction Syndrome of the Cranial Nerves 6
1735 PRP020 Peripheral Nervous System Ganglioneuroblastoma 6
1736 NNT034 Neonatal Brainstem Dysfunction 6
1737 BRS024 Breast Large Cell Neuroendocrine Carcinoma 6
1738 NRV013 Nerve Growth Factor, Alpha Subunit 6
1739 CNT014 Central Nervous System Osteosarcoma 6
1740 c MCR282 Microcephaly and Chorioretinopathy 1 6
1741 c MCR283 Microcephaly and Chorioretinopathy 2 6
1742 c MCR284 Microcephaly and Chorioretinopathy 3 6
1743 EXT057 Extensive Peripapillary Myelinated Nerve Fibers 6
1744 CNT030 Central Nervous System Leiomyosarcoma 6
1745 CNT034 Central Nervous System Childhood Germ Cell Tumor 6
1746 NRV005 Nerve Plexus Neoplasm 6
1747 EMP013 Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation 6
1748 ACT163 Acute Pure Sensory Neuropathy 6
1749 NRT003 Neurotrophic Keratoconjunctivitis 6
1750 ATS077 Autosomal Dominant Optic Atrophy and Peripheral Neuropathy 5
1751 NRP028 Neuropathy with Hearing Impairment 5
1752 CNT012 Central Nervous System Chondroma 5
1753 c CNT032 Central Nervous System Adult Germ Cell Tumor 5
1754 MLN006 Melanocytic Psammomatous Mpnst 5
1755 c ADL040 Adult Brain Ependymoma 5
1756 FBL015 Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome 5
1757 INF150 Infantile Spams-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome 5
1758 FBR095 Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation 5
1759 ANM047 Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/mental Retardation Syndrome 5
1760 MNT314 Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 5
1761 MCR342 Microcephaly, Macrotia, and Mental Retardation 5
1762 SHR110 Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 5
1763 FTL051 Fatal Post-Viral Neurodegenerative Disorder 5
1764 PRL043 Poorly Differentiated Thymic Neuroendocrine Carcinoma 5
1765 NRP056 Neuropathy, Hereditary Motor and Sensory, with Excessive Myelin Folding Complex, Autosomal Recessive 5
1766 MDR005 Moderately-Differentiated Thymic Neuroendocrine Carcinoma 5
1767 WLL020 Well-Differentiated Thymic Neuroendocrine Carcinoma 5
1768 c ADL029 Adult Central Nervous System Mixed Germ Cell Tumor 5
1769 CNT103 Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome 5
1770 ATS093 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease with Neuropathic Pain 5
1771 P MXD039 Mixed Germ Cell Tumor of Central Nervous System 5
1772 FML335 Familial Gastric Type 1 Neuroendocrine Tumor 5
1773 CHL019 Childhood Central Nervous System Immature Teratoma 4
1774 CHL047 Childhood Central Nervous System Mature Teratoma 4
1775 c ADL011 Adult Central Nervous System Mature Teratoma 4
1776 c ADL012 Adult Central Nervous System Immature Teratoma 4
1777 CHL106 Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter 4
1778 GLT033 Glutamic Acid Decarboxylase, Brain, Membrane Form 4
1779 c CHR116 Charcot-Marie-Tooth Neuropathy Type 2e/1f 4
1780 GRS004 Gars-Associated Axonal Neuropathy 4
1781 GLS006 Glossopharyngeal Motor Neuropathy 4
1782 c CHR461 Choriocarcinoma of the Central Nervous System 4
1783 HMN006 Hemangioma of Peripheral Nerve 4
1784 ATS357 Autosomal Dominant Distal Axonal Motor Neuropathy-Myofibrillar Myopathy Syndrome 4
1785 NRG007 Neurogenic Palpebral Tumor 4
1786 MCR298 Microcephaly-Complex Motor and Sensory Axonal Neuropathy Syndrome 4
1787 c MCR048 Microcephaly Chorioretinopathy Recessive Form 4
1788 c MCR059 Microcephaly with Chorioretinopathy, Autosomal Dominant Form 4
1789 P CHR168 Chorioretinopathy Dominant Form Microcephaly 4
1790 SYN094 Syndromic X-Linked Mental Retardation Hough Type 3
1791 c HRD062 Hereditary Type 1 Neuropathy 3
1792 c HRD063 Hereditary Type 2 Neuropathy 3
1793 MNT020 Mental Retardation Macrocephaly Coarse Facies Hypotonia 3
1794 c CHD006 Chd2-Related Neurodevelopmental Disorders 3
1795 P GRN052 Grin2b-Related Neurodevelopmental Disorder 3
1796 c PRR032 Pura-Related Neurodevelopmental Disorders 3
1797 NRM007 Neuroma Biliary Tract 2
1798 NRN007 Neuronal Interstitial Dysplasia 2
1799 BSC002 Bscl2-Related Neurologic Disorders/seipinopathy 2
1800 ALK018 Alk-Related Neuroblastic Tumor Susceptibility 1
1801 ATP015 Atp1a3-Related Neurologic Disorders 1
1802 STR067 Stroke, Ischemic 82
1803 P PRK057 Parkinson Disease, Late-Onset 76
1804 P MNN013 Meningitis 70
1805 P SCH015 Schizophrenia 69
1806 P EPL164 Epilepsy 69
1807 P HYD006 Hydrocephalus 69
1808 P AMY004 Amyloidosis 68
1809 APN008 Apnea, Obstructive Sleep 67
1810 P CWD001 Cowden Disease 67
1811 CRB039 Cerebrovascular Disease 67
1812 P ENC004 Encephalitis 65
1813 P DYS154 Dystonia 64
1814 P MYS005 Myositis 63
1815 c MCP049 Mucopolysaccharidosis, Type Vii 63
1816 c MCP024 Mucopolysaccharidosis Type Vi 62
1817 MVM001 Movement Disease 60
1818 c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 59
1819 c 3MT016 3-Methylglutaconic Aciduria, Type Iii 59
1820 SLP005 Sleep Disorder 59
1821 HDC001 Headache 59
1822 c MCP004 Mucopolysaccharidosis Iv 59
1823 c RHB024 Rhabdomyosarcoma 2 58
1824 NRT004 Neuritis 57
1825 TRP002 Tropical Spastic Paraparesis 57
1826 DMY004 Demyelinating Disease 57
1827 P PLY019 Polyneuropathy 57
1828 P EPL140 Epilepsy, Idiopathic Generalized 57
1829 c ALM001 Al Amyloidosis 57
1830 CRT016 Carotid Artery Disease 57
1831 RLP002 Relapsing-Remitting Multiple Sclerosis 57
1832 P RHB003 Rhabdomyosarcoma 56
1833 STR020 Strabismus 56
1834 P CHL002 Childhood Absence Epilepsy 56
1835 FCL014 Focal Epilepsy 55
1836 P SMP003 Simpson-Golabi-Behmel Syndrome 55
1837 c CWD006 Cowden Syndrome 1 55
1838 P MGL013 Megalencephaly 54
1839 SPS003 Spastic Diplegia 54
1840 ASP003 Aseptic Meningitis 54
1841 c DYS191 Dystonia 1, Torsion, Autosomal Dominant 53
1842 P MGR003 Migraine with Aura 53
1843 P CNT004 Centronuclear Myopathy 53
1844 INT075 Intracranial Hypertension 52
1845 TMP001 Temporal Lobe Epilepsy 52
1846 P TRN034 Transverse Myelitis 52
1847 c VRL007 Viral Encephalitis 52
1848 c INV001 Invasive Aspergillosis 52
1849 QDR001 Quadriplegia 52
1850 CRT013 Carotid Stenosis 52
1851 P PTT014 Pitt-Hopkins Syndrome 51
1852 c ERL020 Early-Onset Schizophrenia 51
1853 GNG002 Ganglioneuroma 51
1854 RFL001 Reflex Sympathetic Dystrophy 51
1855 FCL012 Facial Paralysis 51
1856 DBT004 Diabetic Polyneuropathy 51
1857 c SCN036 Secondary Progressive Multiple Sclerosis 51
1858 P LPR021 Leprosy 3 50
1859 P SYR001 Syringomyelia 50
1860 HNN001 Hennekam Syndrome 50
1861 c PRM108 Primary Progressive Multiple Sclerosis 49
1862 MGR028 Migraine with or Without Aura 1 49
1863 c CNG216 Congenital Hydrocephalus 49
1864 MNN009 Meningoencephalitis 49
1865 CRB027 Cerebellar Disease 49
1866 c VRL012 Viral Meningitis 49
1867 c HRD039 Hereditary Amyloidosis 48
1868 P LSS002 Lissencephaly 48
1869 c MYS051 Myasthenic Syndrome, Congenital, 5 47
1870 HYD061 Hydrocephalus, Normal-Pressure 47
1871 P NML001 Nemaline Myopathy 47
1872 EPL073 Epilepsy, Nocturnal Frontal Lobe, 1 47
1873 SPS007 Spastic Cerebral Palsy 47
1874 c OPT051 Opitz Gbbb Syndrome, Type I 47
1875 c SCH079 Schizophrenia 1 46
1876 P RSM001 Rasmussen Encephalitis 46
1877 P KLF001 Kleefstra Syndrome 46
1878 CRB004 Cerebral Artery Occlusion 46
1879 MGR001 Migraine Without Aura 46
1880 CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 46
1881 PLY020 Polyradiculoneuropathy 46
1882 P BLP003 Blepharospasm 46
1883 P GLL032 Galloway-Mowat Syndrome 46
1884 P EPN001 Ependymoblastoma 46
1885 P ENC008 Encephalocele 46
1886 BSL008 Basal Ganglia Disease 46
1887 WRN003 Wernicke Encephalopathy 45
1888 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 45
1889 c PSD106 Pseudo-Torch Syndrome 1 45
1890 c LKD010 Leukodystrophy, Hypomyelinating, 2 45
1891 CRY014 Cryptococcal Meningitis 45
1892 MNN001 Meningeal Melanocytoma 45
1893 MNN032 Meningococcal Meningitis 44
1894 c ACT159 Acute Transverse Myelitis 44
1895 GNG008 Ganglioneuroblastoma 44
1896 c MCP047 Mucopolysaccharidosis, Type Iva 44
1897 c 3MT015 3-Methylglutaconic Aciduria, Type I 44
1898 CRT008 Carotid Artery Dissection 44
1899 CRT015 Carotid Artery Occlusion 44
1900 P MNN018 Mannosidosis 43
1901 P MTC004 Mitochondrial Encephalomyopathy 43
1902 MNN017 Mononeuropathy 43
1903 HRT030 Hartsfield Syndrome 43
1904 c CHR095 Chronic Progressive External Ophthalmoplegia 43
1905 P DNR001 Duane Retraction Syndrome 43
1906 CLS049 Classic Phenylketonuria 42
1907 c BNG023 Benign Familial Infantile Epilepsy 42
1908 PRP056 Porphyria, Acute Hepatic 42
1909 P JVN007 Juvenile Absence Epilepsy 42
1910 LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 42
1911 P MYF003 Myofibrillar Myopathy 42
1912 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 42
1913 EXT022 Exotropia 42
1914 ERL001 Early Myoclonic Encephalopathy 42
1915 MYC033 Myoclonus 41
1916 SYN058 Synucleinopathy 41
1917 HYP026 Hypoglycemic Coma 41
1918 PLL008 Pallister-Killian Syndrome 41
1919 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 41
1920 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 41
1921 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 41
1922 c OPT050 Opitz Gbbb Syndrome, Type Ii 41
1923 CRB009 Cerebritis 41
1924 c 3MT014 3-Methylglutaconic Aciduria, Type V 41
1925 P MNN007 Meningocele 41
1926 PST086 Posterior Cortical Atrophy 41
1927 c PRN053 Porencephaly 1 41
1928 STR002 Streptococcal Meningitis 41
1929 ART002 Arts Syndrome 41
1930 CHR386 Chromosome 6pter-P24 Deletion Syndrome 40
1931 DND001 Dandy-Walker Syndrome 40
1932 FRG008 Fragile X-Associated Tremor/ataxia Syndrome 40
1933 SCR001 Secretory Meningioma 40
1934 c ATM075 Autoimmune Encephalitis 40
1935 c STR085 Striatonigral Degeneration, Infantile 40
1936 c DYS146 Dystonia 24 40
1937 c ERL056 Early-Onset Parkinson's Disease 40
1938 PNM013 Pneumococcal Meningitis 40
1939 SCR011 Scrapie 40
1940 PLR009 Pol Iii-Related Leukodystrophies 40
1941 c MYS078 Myasthenic Syndrome, Congenital, 14 40
1942 PDT035 Pediatric Systemic Lupus Erythematosus 40
1943 P CNG024 Congenital Nystagmus 40
1944 ALG001 Algoneurodystrophy 39
1945 P CRB059 Cerebellar Degeneration 39
1946 RHB002 Rhabdoid Meningioma 39
1947 CLL001 Cellular Schwannoma 39
1948 CRB148 Cerebral Creatine Deficiency Syndrome 3 39
1949 INT042 Internuclear Ophthalmoplegia 39
1950 P EPL116 Epileptic Encephalopathy, Childhood-Onset 39
1951 P CRB088 Cerebral Atrophy 39
1952 c HLP026 Holoprosencephaly 3 39
1953 BSL009 Basal Ganglia Calcification 39
1954 PST027 Postencephalitic Parkinson Disease 39
1955 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 39
1956 c HLP024 Holoprosencephaly 2 39
1957 BLT001 Bilateral Retinoblastoma 39
1958 P GNR002 Generalized Epilepsy with Febrile Seizures Plus 38
1959 INT010 Intracranial Embolism 38
1960 c HLP029 Holoprosencephaly 4 38
1961 c PRG011 Progressive Myoclonus Epilepsy 38
1962 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 38
1963 c MYC068 Myoclonic Epilepsy of Infancy 38
1964 c GM2005 Gm2-Gangliosidosis, Ab Variant 38
1965 c PRK090 Parkinson Disease 3, Autosomal Dominant 38
1966 RTN013 Retinal Hemangioblastoma 38
1967 HYP034 Hypertensive Encephalopathy 38
1968 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 38
1969 c MYG007 Myoglobinuria, Recurrent 38
1970 c ERL006 Early-Onset Familial Alzheimer Disease 38
1971 VNM003 Van Maldergem Syndrome 1 38
1972 OBS004 Obstructive Hydrocephalus 38
1973 MDL003 Medullomyoblastoma 38
1974 P GNG010 Gangliosidosis Gm2 37
1975 PLX004 Plexopathy 37
1976 PLM021 Pilomyxoid Astrocytoma 37
1977 PRT005 Protoplasmic Astrocytoma 37
1978 P 3MT007 3-Methylglutaconic Aciduria 37
1979 c GLL038 Galloway-Mowat Syndrome 1 37
1980 c LKD008 Leukodystrophy, Hypomyelinating, 4 37
1981 SML028 Semilobar Holoprosencephaly 37
1982 CHR073 Choreatic Disease 37
1983 CHR667 Chromosome 3pter-P25 Deletion Syndrome 37
1984 CSL001 Causalgia 37
1985 P MYG005 Myoglobinuria 37
1986 ESN006 Eosinophilic Meningitis 37
1987 c MYS052 Myasthenic Syndrome, Congenital, 10 37
1988 MYT003 Myotonic Disease 37
1989 MYP139 Myopathy, Proximal, and Ophthalmoplegia 37
1990 BTR002 Beta-Ureidopropionase Deficiency 37
1991 P LSS024 Lissencephaly with Cerebellar Hypoplasia 37
1992 MDD003 Middle Cerebral Artery Infarction 37
1993 MNN006 Meninges Hemangiopericytoma 37
1994 P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 37
1995 GLY032 Glycosylphosphatidylinositol Deficiency 36
1996 ALB014 Alobar Holoprosencephaly 36
1997 P HYP263 Hypersomnia 36
1998 ATY002 Atypical Choroid Plexus Papilloma 36
1999 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 36
2000 FCL049 Focal Hand Dystonia 36
2001 BLC015 Balo Concentric Sclerosis 36
2002 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 36
2003 CRB026 Cerebellar Astrocytoma 36
2004 ENC005 Encephalomalacia 36
2005 c BLP048 Blepharospasm, Benign Essential 36
2006 P MYC026 Myoclonus Epilepsy 36
2007 c MCP051 Mucopolysaccharidosis, Type Ix 36
2008 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 36
2009 MCR001 Microcystic Meningioma 36
2010 MYS054 Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency 35
2011 P CMM008 Communicating Hydrocephalus 35
2012 P ECT002 Ectomesenchymoma 35
2013 LBR025 Lobar Holoprosencephaly 35
2014 BSL004 Basilar Artery Occlusion 35
2015 c TYP024 Type Ii Mixed Cryoglobulinemia 35
2016 LGH012 Leigh Syndrome with Leukodystrophy 35
2017 PPL050 Papillary Tumor of the Pineal Region 35
2018 IND012 Indifference to Pain, Congenital, Autosomal Recessive 35
2019 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 35
2020 NNK001 Nonaka Myopathy 35
2021 c PRK025 Parkinson Disease 10 35
2022 CHR033 Chordoid Glioma 35
2023 AMY003 Amyotrophic Neuralgia 35
2024 OHD005 Ohdo Syndrome, Sbbys Variant 34
2025 GMS001 Gemistocytic Astrocytoma 34
2026 OCL066 Oculogyric Crisis 34
2027 PSD001 Pseudobulbar Palsy 34
2028 PRM056 Primrose Syndrome 34
2029 c DNR003 Duane Retraction Syndrome 1 34
2030 MCR173 Microform Holoprosencephaly 34
2031 P HYP111 Hyperprolinemia 34
2032 CRB081 Cerebellar Ataxia, Cayman Type 34
2033 PTH003 Pathologic Nystagmus 34
2034 INT003 Intracranial Hypotension 34
2035 INT082 Intraocular Retinoblastoma 34
2036 INF159 Infantile Sialic Acid Storage Disease 34
2037 FCL003 Facial Hemiatrophy 34
2038 P BNG002 Benign Meningioma 34
2039 EPL001 Epilepsy with Generalized Tonic-Clonic Seizures 34
2040 PLX001 Plexiform Schwannoma 33
2041 ANT013 Anterior Spinal Artery Syndrome 33
2042 DYS001 Dyskinetic Cerebral Palsy 33
2043 BRC010 Brachial Plexus Lesion 33
2044 P FML186 Familial Paroxysmal Nonkinesigenic Dyskinesia 33
2045 PLY021 Polyradiculopathy 33
2046 c NML004 Nemaline Myopathy 3 33
2047 P STR001 Striatonigral Degeneration 33
2048 c HYD060 Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 33
2049 UNL002 Unilateral Retinoblastoma 33
2050 CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 33
2051 c DYS119 Dystonia 9 33
2052 MST006 Mast Syndrome 33
2053 NDL005 Nodular Medulloblastoma 33
2054 c GNR038 Generalized Epilepsy with Febrile Seizures Plus, Type 1 33
2055 GBT001 Gaba-Transaminase Deficiency 33
2056 INT053 Intracranial Vasospasm 33
2057 KLL014 Kelley-Seegmiller Syndrome 33
2058 P MYS047 Myasthenic Syndrome, Congenital, 1b, Fast-Channel 33
2059 GLY094 Glycine Encephalopathy with Normal Serum Glycine 33
2060 ANG050 Angiocentric Glioma 33
2061 AKN002 Akinetic Mutism 33
2062 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 32
2063 c CHR091 Chronic Meningitis 32
2064 c MYP078 Myopathy, Myofibrillar, 3 32
2065 EPD005 Epidural Abscess 32
2066 c JVN038 Juvenile Myasthenia Gravis 32
2067 c MYS075 Myasthenic Syndrome, Congenital, 13 32
2068 P SLW003 Slow-Channel Congenital Myasthenic Syndrome 32
2069 FRG010 Fragile X Tremor/ataxia Syndrome 32
2070 ORM002 Oromandibular Dystonia 32
2071 LST003 Listeria Meningitis 32
2072 c HLP028 Holoprosencephaly 5 32
2073 DST008 Diastematomyelia 32
2074 ANT022 Anterior Cranial Fossa Meningioma 32
2075 CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 32
2076 CHR055 Chordoid Meningioma 32
2077 MTC060 Mitochondrial Dna Depletion Syndrome 9 32
2078 LRG003 Large Cell Medulloblastoma 31
2079 VRT001 Vertebral Artery Occlusion 31
2080 FNG004 Fungal Meningitis 31
2081 ANG009 Angiomatous Meningioma 31
2082 GLT019 Glut1 Deficiency Syndrome 2 31
2083 c NML003 Nemaline Myopathy 2 31
2084 RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 31
2085 c EPL133 Epilepsy, Juvenile Absence 1 31
2086 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 31
2087 BYL001 Baylisascariasis 31
2088 CHR028 Chronic Wasting Disease 31
2089 CRT009 Critical Illness Polyneuropathy 31
2090 PHS021 Phosphoglycerate Dehydrogenase Deficiency 31
2091 c MLG133 Malignant Ectomesenchymoma 31
2092 PLC004 Pilocytic Astrocytoma of Cerebellum 31
2093 PRL014 Paralytic Squint 31
2094 P HYP700 Hypomyelinating Leukodystrophy 31
2095 CMP006 Complex Partial Epilepsy 31
2096 c MYP079 Myopathy, Myofibrillar, 5 31
2097 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 31
2098 PLM007 Pulmonary Aspergilloma 31
2099 c NML002 Nemaline Myopathy 1 31
2100 c NML005 Nemaline Myopathy 4 31
2101 SPT016 Septopreoptic Holoprosencephaly 31
2102 ANS018 Anismus 31
2103 CLR007 Colorado Tick Fever 31
2104 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 31
2105 SBD001 Subdural Empyema 31
2106 CLD003 Cold-Induced Sweating Syndrome 31
2107 c PRK085 Parkinson Disease 1, Autosomal Dominant 31
2108 c MCP048 Mucopolysaccharidosis, Type Ivb 30
2109 HYP048 Hypotropia 30
2110 ASP024 Asparagine Synthetase Deficiency 30
2111 PHS022 Phosphoserine Phosphatase Deficiency 30
2112 c LSS010 Lissencephaly 4 30
2113 c KLF004 Kleefstra Syndrome 1 30
2114 HMD003 Hemidystonia 30
2115 VRT003 Vertebrobasilar Insufficiency 30
2116 CNJ001 Conjugate Gaze Palsy 30
2117 MCR099 Microlissencephaly 30
2118 c CHR135 Charcot-Marie-Tooth Disease Type 2a 30
2119 c MYS011 Myasthenia Gravis Congenital 30
2120 c HLP027 Holoprosencephaly 7 30
2121 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 30
2122 SPR011 Suprasellar Meningioma 30
2123 NRN022 Neurenteric Cyst 30
2124 MLD011 Mild Hyperphenylalaninemia 30
2125 GLM012 Glomuvenous Malformations 30
2126 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 30
2127 CRB036 Cerebral Meningioma 30
2128 c SCK009 Seckel Syndrome 1 30
2129 CMB020 Combined Saposin Deficiency 30
2130 LPD042 Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 30
2131 c RCR002 Recurrent Hypersomnia 29
2132 PSM001 Psammomatous Meningioma 29
2133 c MYP080 Myopathy, Myofibrillar, 4 29
2134 MCR183 Microcephaly-Capillary Malformation Syndrome 29
2135 HYP047 Hypertropia 29
2136 c GNR039 Generalized Epilepsy with Febrile Seizures Plus, Type 2 29
2137 MCR096 Macrocephaly/autism Syndrome 29
2138 c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 29
2139 PRP093 Pierpont Syndrome 29
2140 CRB005 Cerebral Arteritis 29
2141 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 29
2142 PHS014 Phosphoglycerate Kinase 1 Deficiency 29
2143 c SCK011 Seckel Syndrome 5 29
2144 c HRD198 Hereditary Dystonia 29
2145 HYP657 Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency 29
2146 WTT002 Witteveen-Kolk Syndrome 29
2147 INT009 Intracranial Abscess 29
2148 P SPS225 Spastic Paralysis, Infantile-Onset Ascending 29
2149 PPL009 Papillary Craniopharyngioma 28
2150 CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 28
2151 MLN009 Melanotic Neurilemmoma 28
2152 BCH003 Boucher-Neuhauser Syndrome 28
2153 c MTC074 Metachromatic Leukodystrophy, Adult Form 28
2154 CRB031 Cerebral Arterial Disease 28
2155 c INF041 Infantile-Onset Ascending Hereditary Spastic Paralysis 28
2156 NDL011 Nodular Ganglioneuroblastoma 28
2157 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 28
2158 CNJ017 Conjunctival Nevus 28
2159 P EPL198 Epilepsy, Myoclonic Juvenile 28
2160 OCC011 Occipital Encephalocele 28
2161 c ALZ062 Alzheimer Disease 19 28
2162 FCL007 Facial Neuralgia 28
2163 c DYS067 Dystonia 6, Torsion 28
2164 SPN340 Spontaneous Intracranial Hypotension 28
2165 PTC005 Pituicytoma 28
2166 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 28
2167 MTC059 Mitochondrial Dna Depletion Syndrome 5 28
2168 EXT009 Extratemporal Epilepsy 28
2169 ACT064 Acute Necrotizing Encephalitis 28
2170 c INF122 Infantile Krabbe Disease 28
2171 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 28
2172 ATY003 Atypical Autism 28
2173 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 28
2174 P SPN202 Spinocerebellar Ataxia, X-Linked 1 28
2175 SCR035 Sacral Agenesis with Vertebral Anomalies 28
2176 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 28
2177 CLS047 Classic Progressive Supranuclear Palsy Syndrome 28
2178 c SCK010 Seckel Syndrome 4 28
2179 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 28
2180 c DYS163 Dystonia 4, Torsion, Autosomal Dominant 27
2181 CRN302 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 27
2182 EPL072 Epilepsy, Nocturnal Frontal Lobe, 3 27
2183 PRG090 Progressive Relapsing Multiple Sclerosis 27
2184 LNG015 Lingual-Facial-Buccal Dyskinesia 27
2185 RST024 Rosette-Forming Glioneuronal Tumor 27
2186 DBT081 Diabetic Encephalopathy 27
2187 SDN002 Sudanophilic Cerebral Sclerosis 27
2188 RHM015 Rhombencephalosynapsis 27
2189 ALZ030 Alazami Syndrome 27
2190 GLT028 Glutaric Aciduria Iii 27
2191 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 27
2192 PYR021 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 27
2193 RFL002 Reflex Epilepsy 27
2194 CMB017 Combined Oxidative Phosphorylation Deficiency 6 27
2195 HYD034 Hydromyelia 27
2196 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 27
2197 LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 27
2198 c PSD107 Pseudo-Torch Syndrome 2 27
2199 MYP097 Myopathy with Lactic Acidosis, Hereditary 27
2200 XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 27
2201 c HYP248 Hyperprolinemia, Type I 27
2202 RBS005 Ribose 5-Phosphate Isomerase Deficiency 27
2203 c ATS307 Autosomal Recessive Cerebellar Ataxia 27
2204 TTT001 Tatton-Brown-Rahman Syndrome 27
2205 CRB147 Cerebellofaciodental Syndrome 27
2206 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 27
2207 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 27
2208 c DYS162 Dystonia, Juvenile-Onset 27
2209 c PRK093 Parkinson Disease 8, Autosomal Dominant 27
2210 TKN001 Takenouchi-Kosaki Syndrome 26
2211 OCC005 Occlusion Precerebral Artery 26
2212 CLR018 Clear Cell Meningioma 26
2213 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 26
2214 MNG007 Manganese Poisoning 26
2215 c MYS046 Myasthenic Syndrome, Congenital, 1a, Slow-Channel 26
2216 ACC003 Accommodative Esotropia 26
2217 c HYP699 Hyperekplexia 1 26
2218 BRC002 Brachial Plexus Neuritis 26
2219 c SPS092 Spastic Paraplegia 11 26
2220 MTC088 Mitochondrial Dna Depletion Syndrome 13 26
2221 c DYS059 Dystonia 16 26
2222 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 26
2223 HRD073 Hereditary Myopathy with Early Respiratory Failure 26
2224 c CHR094 Chronic Polyneuropathy 26
2225 GLY078 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 26
2226 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 26
2227 c PTT029 Pitt-Hopkins-Like Syndrome 1 26
2228 ADG002 Audiogenic Seizures 26
2229 c LKD020 Leukodystrophy, Hypomyelinating, 10 26
2230 SGM008 Segmental Dystonia 26
2231 ADM001 Adamantinous Craniopharyngioma 26
2232 PRS024 Parasagittal Meningioma 26
2233 c SCH082 Schizophrenia 5 26
2234 HYP717 Hypotonia, Infantile, with Psychomotor Retardation 26
2235 c BSL030 Basal Encephalocele 25
2236 c LKD022 Leukodystrophy, Hypomyelinating, 13 25
2237 INT083 Intraventricular Meningioma 25
2238 PST063 Postsynaptic Congenital Myasthenic Syndromes 25
2239 c LPR022 Leprosy 2 25
2240 c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 25
2241 FBR001 Fibrous Meningioma 25
2242 c HLP025 Holoprosencephaly 9 25
2243 P NNT006 Neonatal Myasthenia Gravis 25
2244 TTR027 Tetrasomy 15q26 25
2245 c PRK065 Parkinson Disease 20, Early-Onset 25
2246 PSY012 Psychogenic Movement 25
2247 PRL013 Paralytic Poliomyelitis 25
2248 c ALZ002 Alzheimer Disease Type 1 25
2249 c HRD173 Hereditary Late-Onset Parkinson Disease 25
2250 PLY110 Polymicrogyria, Bilateral Temporooccipital 25
2251 c EPL201 Epilepsy, Familial Adult Myoclonic, 1 25
2252 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 24
2253 c EPL203 Epilepsy, Familial Adult Myoclonic, 2 24
2254 ANT007 Anterior Horn Cell Disease 24
2255 CRN294 Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced 24
2256 CVR001 Cavernous Sinus Meningioma 24
2257 MTC062 Mitochondrial Dna Depletion Syndrome 2 24
2258 CRB017 Cerebral Falx Meningioma 24
2259 c ERL003 Early Onset Absence Epilepsy 24
2260 MYL044 Myelocystocele 24
2261 CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 24
2262 LKN008 Leukoencephalopathy, Cystic, Without Megalencephaly 24
2263 c LKD016 Leukodystrophy, Hypomyelinating, 9 24
2264 c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 24
2265 P SPN237 Spina Bifida Aperta 24
2266 c CWD008 Cowden Syndrome 6 24
2267 RTN174 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 24
2268 MLN004 Melanotic Medulloblastoma 24
2269 BSL045 Basel-Vanagaite-Smirin-Yosef Syndrome 24
2270 c MYS067 Myasthenic Syndrome, Congenital, 22 24
2271 c EPL154 Epilepsy, Progressive Myoclonic, 9 24
2272 PRT101 Poretti-Boltshauser Syndrome 24
2273 c EPL210 Epilepsy, Progressive Myoclonic, 6 24
2274 LMB069 Lamb-Shaffer Syndrome 24
2275 c PTT030 Pitt-Hopkins-Like Syndrome 2 24
2276 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 24
2277 c SCK015 Seckel Syndrome 2 24
2278 c EPL155 Epilepsy, Progressive Myoclonic, 8 24
2279 CMB046 Combined Oxidative Phosphorylation Deficiency 11 24
2280 DFF013 Diffuse Meningeal Melanocytosis 24
2281 c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 24
2282 FNT003 Fountain Syndrome 24
2283 c PRK081 Parkinson Disease 19a, Juvenile-Onset 24
2284 SZR018 Seizures, Scoliosis, and Macrocephaly Syndrome 24
2285 CRB028 Cerebellar Medulloblastoma 24
2286 MYC069 Myoclonic-Astastic Epilepsy 24
2287 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 24
2288 c MYS062 Myasthenic Syndrome, Congenital, 2a, Slow-Channel 24
2289 c HLP016 Holoprosencephaly 11 24
2290 c CWD004 Cowden Syndrome 5 24
2291 c GNR043 Generalized Epilepsy with Febrile Seizures Plus, Type 7 23
2292 c EPL134 Epilepsy, Progressive Myoclonic 7 23
2293 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 23
2294 c MYS076 Myasthenic Syndrome, Congenital, 8 23
2295 c FRN037 Frontal Encephalocele 23
2296 MLT105 Multiple System Atrophy, Cerebellar Type 23
2297 c DYS063 Dystonia 2, Torsion, Autosomal Recessive 23
2298 CRB032 Cerebral Convexity Meningioma 23
2299 P FRM004 Foramen Magnum Meningioma 23
2300 ASS004 Aase-Smith Syndrome I 23
2301 c LKD023 Leukodystrophy, Hypomyelinating, 12 23
2302 EPL096 Epilepsy, Nocturnal Frontal Lobe, 5 23
2303 c ALZ015 Alzheimer Disease 6 23
2304 c EPS013 Episodic Kinesigenic Dyskinesia 2 23
2305 c EPL207 Epilepsy, Progressive Myoclonic, 1b 23
2306 P DYS068 Dystonia 7, Torsion 23
2307 MTC078 Mitochondrial Dna Depletion Syndrome 11 23
2308 SPS211 Spasticity, Childhood-Onset, with Hyperglycinemia 23
2309 c MYS074 Myasthenic Syndrome, Congenital, 12 23
2310 c EPL188 Epilepsy, Progressive Myoclonic, 10 23
2311 PYR025 Pyruvate Dehydrogenase E2 Deficiency 23
2312 c LKD021 Leukodystrophy, Hypomyelinating, 11 23
2313 c MYP119 Myopathy, Myofibrillar, 7 23
2314 CHR487 Chromosome 8q21.11 Deletion Syndrome 23
2315 PRS120 Persistent Idiopathic Facial Pain 23
2316 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 23
2317 c NML007 Nemaline Myopathy 6 23
2318 CHR616 Chromosome 19q13.11 Deletion Syndrome, Distal 23
2319 HYP714 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 23
2320 PRK066 Parkinsonism with Spasticity, X-Linked 23
2321 c SCK029 Seckel Syndrome 7 23
2322 TRG019 Trigonocephaly with Short Stature and Developmental Delay 23
2323 DSN002 Desanto-Shinawi Syndrome 23
2324 c DYS145 Dystonia 23 22
2325 ADL051 Adolescence-Adult Electroclinical Syndrome 22
2326 SPN365 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 22
2327 c MYS056 Myasthenic Syndrome, Congenital, 17 22
2328 SYP001 Syphilitic Meningitis 22
2329 CHL058 Childhood Electroclinical Syndrome 22
2330 c CWD007 Cowden Syndrome 3 22
2331 PDT015 Pediatric Supratentorial Ependymoma 22
2332 HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 22
2333 c PRK052 Parkinson Disease 17 22
2334 PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 22
2335 c PRK070 Parkinson Disease 21 22
2336 c DYS185 Dystonia 13, Torsion, Autosomal Dominant 22
2337 TRN002 Transitional Meningioma 22
2338 CMB054 Combined Oxidative Phosphorylation Deficiency 23 22
2339 c MYS064 Myasthenic Syndrome, Congenital, 16 22
2340 MCR355 Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy 22
2341 c LSS009 Lissencephaly 3 22
2342 CMB018 Combined Oxidative Phosphorylation Deficiency 7 22
2343 c ADL084 Adult-Onset Myasthenia Gravis 22
2344 c MLT094 Multiple Sclerosis 3 22
2345 c PRK091 Parkinson Disease 4, Autosomal Dominant 22
2346 MNN004 Meningothelial Meningioma 22
2347 c SBC039 Subacute Cerebellar Degeneration 22
2348 c SCK038 Seckel Syndrome 10 22
2349 c MYP112 Myopathy, Distal, 3 22
2350 c DYS151 Dystonia 25 22
2351 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant 22
2352 MYS057 Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency 22
2353 c JVN058 Juvenile-Onset Parkinson's Disease 21
2354 PRM153 Primary Progressive Apraxia of Speech 21
2355 c PRK099 Parkinson Disease 18, Autosomal Dominant 21
2356 PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 21
2357 RTC007 Reticular Perineurioma 21
2358 c SPS198 Spastic Paraplegia 16, X-Linked 21
2359 c ALZ045 Alzheimer Disease 9 21
2360 c EPL053 Epilepsy, Familial Adult Myoclonic, 3 21
2361 c MYS060 Myasthenic Syndrome, Congenital, 4b, Fast-Channel 21
2362 c MYS070 Myasthenic Syndrome, Congenital, 19 21
2363 c NML022 Nemaline Myopathy 10 21
2364 c NML024 Nemaline Myopathy 11, Autosomal Recessive 21
2365 DVL018 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 21
2366 INF033 Infancy Electroclinical Syndrome 21
2367 c LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 21
2368 c CRB170 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 21
2369 c SCN048 Secondary Syringomyelia 21
2370 c EPL200 Epilepsy, Childhood Absence 1 21
2371 MSC089 Mosaic Monosomy X 21
2372 MCR321 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 21
2373 PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 21
2374 YNH001 Yuan-Harel-Lupski Syndrome 21
2375 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 21
2376 CRB015 Cerebellar Angioblastoma 21
2377 c LSS035 Lissencephaly 8 21
2378 c MYP118 Myopathy, Myofibrillar, 8 21
2379 c DYS138 Dystonia 21 21
2380 P ENC054 Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations 21
2381 HMC036 Homocystinuria Without Methylmalonic Aciduria 21
2382 MLT116 Multiple System Atrophy, Parkinsonian Type 21
2383 c NML010 Nemaline Myopathy 7 21
2384 c MYS065 Myasthenic Syndrome, Congenital, 18 21
2385 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 21
2386 c SCH085 Schizophrenia 2 21
2387 c SCK033 Seckel Syndrome 8 21
2388 c MYP148 Myopathy, Centronuclear, 5 21
2389 c NML025 Nemaline Myopathy 8 21
2390 MCR354 Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures 21
2391 EXT029 Extraocular Retinoblastoma 21
2392 SPS190 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 21
2393 NNT041 Neonatal Period Electroclinical Syndrome 21
2394 PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 21
2395 c GNR041 Generalized Epilepsy with Febrile Seizures Plus, Type 3 21
2396 c APR009 Aprosencephaly Syndrome 21
2397 c HLP022 Holoprosencephaly 8 21
2398 ATY034 Atypical Juvenile Parkinsonism 21
2399 c EPL103 Epilepsy, Familial Adult Myoclonic, 5 21
2400 c SCK037 Seckel Syndrome 9 20
2401 MYS016 Myosclerosis, Autosomal Recessive 20
2402 c PRK008 Parkinson Disease Type 9 20
2403 CRV063 Cervical Spina Bifida Aperta 20
2404 P TRC034 Torch Syndrome 20
2405 SPR067 Sporadic Adult-Onset Ataxia of Unknown Etiology 20
2406 CRB018 Cerebral Lipidosis 20
2407 MYP038 Myopathy, Congenital, Compton-North 20
2408 HRR005 Harrod Syndrome 20
2409 SPS134 Spasmodic Dystonia 20
2410 c SCH080 Schizophrenia 3 20
2411 SPS207 Spastic Paraplegia and Psychomotor Retardation with or Without Seizures 20
2412 HMP030 Haemophilus Meningitis 20
2413 HYD048 Hydrocephalus with Stenosis of the Aqueduct of Sylvius 20
2414 PRX090 Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy 20
2415 c EPL093 Epilepsy, Idiopathic Generalized 7 20
2416 ATS327 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2 20
2417 c EPL084 Epilepsy, Idiopathic Generalized 11 20
2418 HMP027 Hemiparkinsonism-Hemiatrophy Syndrome 20
2419 MYM014 Moyamoya Disease 6 with Achalasia 20
2420 c NML021 Nemaline Myopathy 9 20
2421 c CWD009 Cowden Syndrome 7 20
2422 PDT016 Pediatric Infratentorial Ependymoma 20
2423 P OVR096 Overlap Myositis 20
2424 c MLT093 Multiple Sclerosis 2 20
2425 c DYS172 Dystonia 27 20
2426 VCT008 Vacterl with Hydrocephalus 20
2427 CNT104 Contractures, Congenital, Torticollis, and Malignant Hyperthermia 20
2428 CHR393 Chromosome 19p13.13 Deletion Syndrome 20
2429 c SPS020 Spastic Paraplegia 1 20
2430 MCR311 Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome 20
2431 c EPL086 Epilepsy, Idiopathic Generalized 9 20
2432 STR093 Striatonigral Degeneration, Childhood-Onset 20
2433 PRT006 Partial Motor Epilepsy 20
2434 c PRK094 Parkinson Disease 11, Autosomal Dominant 20
2435 UND011 Undetermined Early-Onset Epileptic Encephalopathy 20
2436 CRV062 Cervical Spina Bifida Cystica 20
2437 c HYP510 Hyperekplexia 2 20
2438 KLP016 Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism 20
2439 c SPS062 Spastic Paraplegia 34, X-Linked 20
2440 c MYP098 Myopathy, Centronuclear, 4 20
2441 LMB056 Lumbosacral Spina Bifida Cystica 20
2442 ABS020 Absent Eyebrows and Eyelashes with Mental Retardation 20
2443 CRB023 Cerebellopontine Angle Meningioma 20
2444 LKN017 Leukoencephalopathy with Ataxia 19
2445 c MLT124 Multiple Sclerosis 5 19
2446 MTR058 Maternally-Inherited Progressive External Ophthalmoplegia 19
2447 MYP035 Myopathy, Distal, with Anterior Tibial Onset 19
2448 c PRM150 Primary Localized Amyloidosis 19
2449 c GLL040 Galloway-Mowat Syndrome 3 19
2450 c MYS077 Myasthenic Syndrome, Congenital, 15 19
2451 c GNR034 Generalized Epilepsy with Febrile Seizures Plus, Type 9 19
2452 PLY114 Polyglucosan Body Myopathy 2 19
2453 CRT069 Cortical Malformations, Occipital 19
2454 c PRK096 Parkinson Disease 13, Autosomal Dominant 19
2455 c PRM015 Primary Cerebellar Degeneration 19
2456 CMB051 Combined Oxidative Phosphorylation Deficiency 21 19
2457 NPH064 Nipah Virus Disease 19
2458 c CRB168 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 19
2459 GRW033 Growth Retardation, Small and Puffy Hands and Feet, and Eczema 19
2460 c DNR004 Duane Retraction Syndrome 2 19
2461 c MYS049 Myasthenic Syndrome, Congenital, 3b, Fast-Channel 19
2462 PRP008 Parapharyngeal Meningioma 19
2463 c FCL030 Facial Paresis, Hereditary Congenital, 1 19
2464 CMB076 Combined Oxidative Phosphorylation Deficiency 31 19
2465 c ALZ060 Alzheimer Disease 14 19
2466 CMB071 Combined Oxidative Phosphorylation Deficiency 27 19
2467 CMB077 Combined Oxidative Phosphorylation Deficiency 30 19
2468 c PRX024 Paroxysmal Nonkinesigenic Dyskinesia 2 19
2469 HYP690 Hyper-Beta-Alaninemia 19
2470 c PRN047 Porencephaly 2 19
2471 SPN356 Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia 19
2472 c MYP095 Myopathy, Distal, 4 19
2473 MYP114 Myopathy, Scapulohumeroperoneal 19
2474 CHR362 Chromosome 17q21.31 Duplication Syndrome 19
2475 c MYP116 Myopathy, Distal, 5 19
2476 CMB052 Combined Oxidative Phosphorylation Deficiency 20 19
2477 c MYS048 Myasthenic Syndrome, Congenital, 3a, Slow-Channel 19
2478 c RSM003 Rasmussen Subacute Encephalitis 19
2479 MYP149 Myopathy, Mitochondrial, and Ataxia 19
2480 RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 19
2481 c INF126 Infantile Glycine Encephalopathy 19
2482 c TTL009 Total Spina Bifida Aperta 19
2483 THR085 Thoracolumbosacral Spina Bifida Aperta 19
2484 LMB057 Lumbosacral Spina Bifida Aperta 19
2485 CRV064 Cervicothoracic Spina Bifida Aperta 19
2486 UPP008 Upper Thoracic Spina Bifida Aperta 19
2487 TTL008 Total Spina Bifida Cystica 19
2488 THR084 Thoracolumbosacral Spina Bifida Cystica 19
2489 CRV061 Cervicothoracic Spina Bifida Cystica 19
2490 UPP007 Upper Thoracic Spina Bifida Cystica 19
2491 c SPN203 Spinocerebellar Ataxia, X-Linked 5 19
2492 CMB063 Combined Oxidative Phosphorylation Deficiency 25 19
2493 c EPL107 Epilepsy, Familial Adult Myoclonic, 4 19
2494 IDP067 Idiopathic Hemiconvulsion-Hemiplegia Syndrome 19
2495 MYP121 Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 19
2496 SZR027 Seizures, Cortical Blindness, and Microcephaly Syndrome 19
2497 DYS188 Dyskinesia, Limb and Orofacial, Infantile-Onset 19
2498 c SCH051 Schizophrenia 4 19
2499 c SPS042 Spastic Paraplegia 9 19
2500 c CWD003 Cowden Syndrome 2 19
2501 c CWD005 Cowden Syndrome 4 19
2502 c FCL056 Facial Paresis, Hereditary Congenital, 3 19
2503 LKD026 Leukodystrophy, Progressive, Early Childhood-Onset 18
2504 NNT038 Neonatal Glycine Encephalopathy 18
2505 ATX023 Ataxia, Sensory, 1, Autosomal Dominant 18
2506 LKN009 Leukoencephalopathy with Metaphyseal Chondrodysplasia 18
2507 INF118 Inflammatory Myopathy with Abundant Macrophages 18
2508 c GLL041 Galloway-Mowat Syndrome 4 18
2509 3P2001 3p25.3 Microdeletion Syndrome 18
2510 PLY115 Polyendocrine-Polyneuropathy Syndrome 18
2511 11Q001 11q22.2q22.3 Microdeletion Syndrome 18
2512 MSL004 Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis 18
2513 P ANT004 Anterior Cerebral Artery Infarction 18
2514 c SCH081 Schizophrenia 6 18
2515 MTC079 Mitochondrial Pyruvate Carrier Deficiency 18
2516 PRM157 Primary Progressive Freezing Gait 18
2517 c HYP519 Hyperekplexia 3 18
2518 ZBR001 Zebra Body Myopathy 18
2519 HYP659 Hypomyelinating Leukoencephalopathy 18
2520 c BLL009 Bullous Dystrophy Hereditary Macular Type 18
2521 c LPR023 Leprosy 1 18
2522 c PSD047 Pseudo-Turner Syndrome 18
2523 MNT308 Mental Retardation with Optic Atrophy, Deafness, and Seizures 18
2524 MLG143 Malignant Hyperthermia of Anesthesia 18
2525 OCL070 Oculopalatocerebral Syndrome 18
2526 c 3MT023 3-Methylglutaconic Aciduria, Type Ix 18
2527 CRB134 Carbon Monoxide-Induced Parkinsonism 18
2528 APL029 Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy 18
2529 c DYS175 Dystonia 26, Myoclonic 18
2530 CHR043 Chronic Inflammatory Demyelinating Polyneuritis 18
2531 c SCH064 Schizophrenia 10 18
2532 c MYP096 Myopathy, Centronuclear, 3 18
2533 DST036 Distal Trisomy 15q 18
2534 c EPL098 Epilepsy, Idiopathic Generalized 12 18
2535 6Q1001 6q16 Deletion Syndrome 18
2536 CRN156 Craniofacioskeletal Syndrome 18
2537 c GLL042 Galloway-Mowat Syndrome 5 18
2538 DYS189 Dyskinesia, Seizures, and Intellectual Developmental Disorder 18
2539 c SCK032 Seckel Syndrome 6 18
2540 c HYD042 Hydrocephalus, Autosomal Dominant 18
2541 c SYS066 Systemic Polyarteritis Nodosa 18
2542 7P2001 7p22.1 Microduplication Syndrome 18
2543 CHR614