Neuronal Diseases Category (6101 diseases)


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

# Family MCID Name MIFTS
1 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
2 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 52
3 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 54
4 c GLY008 Glycogen Storage Disease Ii 67
5 c GLY060 Glycogen Storage Disease Ia 62
6 c GLY003 Glycogen Storage Disease Iii 62
7 P GLY013 Glycogen Storage Disease 62
8 c GLY005 Glycogen Storage Disease Vi 57
9 c GLY004 Glycogen Storage Disease V 55
10 c GLY007 Glycogen Storage Disease Iv 52
11 c GLY011 Glycogen Storage Disease Vii 52
12 c GLY098 Glycogen Storage Disease, Type Ixd 40
13 c GLY023 Glycogen Storage Disease Type 0 39
14 c GLY044 Glycogen Storage Disease Ixc 38
15 c GLY016 Glycogen Storage Disease Ib 36
16 c GLY097 Glycogen Storage Disease Ixb 29
17 c GLY017 Glycogen Storage Disease Ic 29
18 c GLY009 Glycogen Storage Disease Xv 29
19 c GLY043 Glycogen Storage Disease Xii 28
20 c GLY057 Glycogen Storage Disease X 28
21 c GLY006 Glycogen Storage Disease Viii 26
22 c GLY001 Glycogen Storage Disease Ix 23
23 c GLY059 Glycogen Storage Disease Xiii 22
24 c GLY093 Glycogen Storage Disease Ixa 16
25 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 32
26 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 40
27 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 57
28 NRP051 Neuropathy, Hereditary, with Liability to Pressure Palsies 59
29 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 46
30 MNT304 Mental Retardation, X-Linked, with or Without Seizures, Arx-Related 20
31 HYP186 Hypertrophic Neuropathy of Dejerine-Sottas 48
32 BRN028 Brain Cancer 74
33 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 59
34 MTC016 Mitochondrial Neurogastrointestinal Encephalopathy Disease 32
35 MTC036 Mitochondrial Membrane Protein-Associated Neurodegeneration 27
36 ABD002 Abducens Nerve Disease 42
37 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 60
38 c CRD225 Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant 27
39 NRM016 Neuromyotonia and Axonal Neuropathy, Autosomal Recessive 31
40 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 35
41 c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 44
42 P NRP063 Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive 54
43 PTT059 Pettigrew Syndrome 44
44 DBT087 Diabetes Insipidus, Neurohypophyseal 62
45 PNC119 Pancreatic Neuroendocrine Tumor 49
46 MNT303 Mental Retardation, X-Linked, Syndromic, Cabezas Type 29
47 c DST030 Distal Hereditary Motor Neuropathy, Type V 25
48 c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 61
49 P GNT009 Giant Axonal Neuropathy 52
50 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 42
51 CMB026 Combined Oxidative Phosphorylation Deficiency 12 28
52 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 26
53 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 37
54 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 43
55 BRN048 Brain Stem Cancer 40
56 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 37
57 HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 26
58 INT319 Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked 29
59 MLG077 Malignant Peripheral Nerve Sheath Tumor 60
60 ACS001 Acoustic Neuroma 62
61 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 37
62 INS023 Insensitivity to Pain, Congenital, with Anhidrosis 48
63 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 47
64 P NRD007 Neurodegeneration with Brain Iron Accumulation 49
65 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 43
66 SPN040 Spinal Cancer 42
67 CWC001 Cowchock Syndrome 36
68 ATH001 Athabaskan Brainstem Dysgenesis Syndrome 28
69 P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 53
70 c ATS421 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect 9
71 CNC002 Cinca Syndrome 65
72 ART127 Arthrogryposis Multiplex Congenita, Neurogenic Type 37
73 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 34
74 P PRP019 Peripheral Nervous System Disease 66
75 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 50
76 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 40
77 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 38
78 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 38
79 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 37
80 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 36
81 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 35
82 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 35
83 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
84 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 34
85 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 33
86 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 33
87 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 33
88 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 32
89 P NRP059 Neuropathy, Hereditary Motor and Sensory, Type Via 31
90 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 31
91 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 31
92 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 30
93 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 29
94 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 29
95 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 28
96 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 28
97 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 28
98 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 28
99 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 27
100 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 27
101 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 27
102 c SPN335 Spinocerebellar Ataxia Type 1 with Axonal Neuropathy 27
103 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 26
104 c SPS036 Spastic Paraplegia 3 26
105 c SPS091 Spastic Paraplegia 4 26
106 c SPS021 Spastic Paraplegia 10 26
107 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 26
108 c HRD186 Hereditary Spastic Paraplegia 51 26
109 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 25
110 c SPS027 Spastic Paraplegia 17 24
111 c SPS041 Spastic Paraplegia 6 20
112 c SPS023 Spastic Paraplegia 13 19
113 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 19
114 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 19
115 c SPS028 Spastic Paraplegia 18 19
116 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 18
117 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 18
118 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 18
119 c SPS034 Spastic Paraplegia 26 18
120 c SPS032 Spastic Paraplegia 24 18
121 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 18
122 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 17
123 c SPS029 Spastic Paraplegia 19 17
124 c SPS035 Spastic Paraplegia 29 17
125 c SPS033 Spastic Paraplegia 25 17
126 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 17
127 c SPS080 Spastic Paraplegia 51 16
128 c SPS026 Spastic Paraplegia 16 16
129 c SPS161 Spastic Paraplegia 32 16
130 c HRD188 Hereditary Spastic Paraplegia 72 16
131 c SPS022 Spastic Paraplegia 12 16
132 c SPS024 Spastic Paraplegia 14 15
133 c SPS040 Spastic Paraplegia 5b 12
134 c SPS230 Spastic Paraplegia Type 49 12
135 c SPS165 Spastic Paraplegia 47 11
136 c SPT021 Sptlc1-Related Hereditary Sensory Neuropathy 15
137 P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 50
138 c NRN040 Neuronopathy, Distal Hereditary Motor, Type Viib 25
139 NRP049 Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux 20
140 P NRV006 Nervous System Cancer 60
141 CRP001 Carpal Tunnel Syndrome 72
142 P CRB185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 49
143 ENC039 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 43
144 ATX010 Ataxia Neuropathy Spectrum 39
145 c HRD138 Hereditary Motor and Sensory Neuropathy V 31
146 NRD024 Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart 23
147 SPL051 Split Spinal Cord Malformation 23
148 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 51
149 PRT052 Partington X-Linked Mental Retardation Syndrome 41
150 c PRM039 Primary Angiitis of the Central Nervous System 35
151 c NRN037 Neuronopathy, Distal Hereditary Motor, Type Va 29
152 CSY002 Coasy Protein-Associated Neurodegeneration 18
153 P HRD021 Hereditary Sensory Neuropathy 50
154 MSS001 Masa Syndrome 47
155 MLN073 Melanosis, Neurocutaneous 40
156 MGR035 Migraine with Brainstem Aura 21
157 c AMY091 Amyotrophic Lateral Sclerosis 1 90
158 MCL009 Mcleod Syndrome 48
159 c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 41
160 c AMY023 Amyotrophic Lateral Sclerosis Type 6 31
161 c AMY089 Amyotrophic Lateral Sclerosis 7 27
162 c AMY074 Amyotrophic Lateral Sclerosis Type 14 26
163 c AMY022 Amyotrophic Lateral Sclerosis Type 5 23
164 c AMY079 Amyotrophic Lateral Sclerosis Type 15 14
165 c AMY109 Amyotrophic Lateral Sclerosis Type 22 11
166 c TRD001 Tardbp-Related Amyotrophic Lateral Sclerosis 10
167 P NRF023 Neurofibromatosis, Type Ii 76
168 c NRF024 Neurofibromatosis, Type I 69
169 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 49
170 RBF002 Riboflavin Transporter Deficiency Neuronopathy 17
171 MSC077 Muscle Eye Brain Disease 45
172 CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 42
173 c CHR647 Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 38
174 MHM001 Mehmo Syndrome 33
175 NRD030 Neurodegeneration, Childhood-Onset, with Brain Atrophy 20
176 PCK003 Pick Disease of Brain 66
177 MLT075 Multifocal Motor Neuropathy 50
178 c CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 47
179 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 38
180 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 34
181 c CHR026 Charcot-Marie-Tooth Disease Type X 24
182 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 23
183 c FVL008 Foveal Hypoplasia 2 23
184 c CHR549 Charcot-Marie-Tooth Disease Type 2l 18
185 c CHR147 Charcot-Marie-Tooth Disease Type 2k 18
186 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 16
187 c CHR143 Charcot-Marie-Tooth Disease Type 2g 15
188 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 14
189 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 12
190 c DNJ004 Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 10
191 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 10
192 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 10
193 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 9
194 c CHR572 Charcot-Marie-Tooth Disease Type 7 8
195 P CHR071 Charcot-Marie-Tooth Disease 65
196 NRT001 Neurotic Disorder 48
197 P ADT009 Auditory Neuropathy Spectrum Disorder 37
198 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 34
199 c NRN025 Neuronopathy, Distal Hereditary Motor, Type Viia 27
200 MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 26
201 P HYP553 Hyperphosphatasia with Mental Retardation Syndrome 3 22
202 c FRT006 Fourth Cranial Nerve Palsy, Familial Congenital 19
203 P PLZ001 Pelizaeus-Merzbacher Disease 66
204 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 62
205 c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 56
206 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 55
207 ATN002 Autonomic Nervous System Disease 54
208 c CNT033 Central Nervous System Cancer 53
209 c GRS014 Griscelli Syndrome, Type 2 49
210 P OPT070 Optic Nerve Hypoplasia, Bilateral 49
211 CRB151 Cerebral Creatine Deficiency Syndrome 1 49
212 c GRS013 Griscelli Syndrome, Type 1 40
213 c MNT143 Mental Retardation, Autosomal Dominant 13 38
214 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 37
215 MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 36
216 P MSC002 Muscular Dystrophy-Dystroglycanopathy 34
217 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 33
218 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 32
219 c PLZ002 Pelizaeus-Merzbacher-Like Disease 30
220 MBD001 Mbd5 Haploinsufficiency 28
221 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 26
222 c MNT301 Mental Retardation, X-Linked 21 23
223 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 22
224 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 20
225 SCP005 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 17
226 SPN186 Spinal Cord Injury 66
227 TXC002 Toxic Encephalopathy 57
228 NRN004 Neuroendocrine Tumor 56
229 CHR105 Choreoacanthocytosis 48
230 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 47
231 MTR007 Motor Peripheral Neuropathy 41
232 c ADT007 Auditory Neuropathy, Autosomal Dominant, 1 29
233 LKN010 Leukoencephalopathy with Dystonia and Motor Neuropathy 24
234 NRP009 Neuropathy, Hereditary Motor and Sensory, Okinawa Type 24
235 RYN006 Raynaud-Claes Syndrome 23
236 c NRN024 Neuronopathy, Distal Hereditary Motor, Type Vb 22
237 P NRN021 Neuronal Ceroid Lipofuscinosis 62
238 P PRP021 Peripheral Nervous System Neoplasm 51
239 c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 43
240 CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 32
241 c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 29
242 MNT056 Mental Retardation, X-Linked, Syndromic, Nascimento Type 25
243 c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 23
244 CRP034 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 22
245 c NRN018 Neuronopathy, Distal Hereditary Motor, Type Iic 21
246 c NRN041 Neuronopathy, Distal Hereditary Motor, Type Iib 21
247 c NRN026 Neuronopathy, Distal Hereditary Motor, Type Iid 20
248 c NRN035 Neuronopathy, Distal Hereditary Motor, Type Iia 19
249 CHR639 Chromosome Xp11.22 Duplication Syndrome 14
250 EPD081 Epidermoid Brain Cyst 13
251 P CTS001 Cutis Laxa 62
252 BLM002 Bulimia Nervosa 61
253 c NMN016 Niemann-Pick Disease, Type B 59
254 ERY029 Erythermalgia, Primary 58
255 c NMN013 Niemann-Pick Disease, Type a 58
256 BRJ001 Borjeson-Forssman-Lehmann Syndrome 54
257 c ATS393 Autosomal Recessive Cutis Laxa Type I 50
258 P NMN002 Niemann-Pick Disease 50
259 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 49
260 c CTS045 Cutis Laxa, Autosomal Dominant 1 46
261 LBS001 Lubs X-Linked Mental Retardation Syndrome 45
262 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 44
263 NRF008 Neurofibromatosis-Noonan Syndrome 43
264 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 39
265 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 38
266 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
267 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 36
268 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 33
269 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 31
270 c ACQ027 Acquired Cutis Laxa 30
271 c CTS031 Cutis Laxa, Autosomal Dominant 2 29
272 SCP002 Scapuloperoneal Spinal Muscular Atrophy 29
273 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
274 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
275 FCL042 Facial Onset Sensory and Motor Neuronopathy 22
276 c ATP003 Atp6v0a2-Related Cutis Laxa 21
277 RJB002 Rajab Interstitial Lung Disease with Brain Calcifications 21
278 RTN207 Retinopathy, Pigmentary, and Mental Retardation 20
279 c LTB003 Ltbp4-Related Cutis Laxa 16
280 c EFM001 Efemp2-Related Cutis Laxa 14
281 c FBL003 Fbln5-Related Cutis Laxa 8
282 P GRN052 Grin2b-Related Neurodevelopmental Disorder 8
283 MTR014 Motor Neuron Disease 60
284 SNS003 Sensory Peripheral Neuropathy 56
285 CNT019 Central Neurocytoma 48
286 c GNT049 Giant Axonal Neuropathy 1, Autosomal Recessive 43
287 c CRD226 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive 38
288 WCK001 Wieacker-Wolff Syndrome 36
289 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 33
290 c DST027 Distal Hereditary Motor Neuropathy, Type Ii 31
291 CNG102 Congenital Hypomyelination Neuropathy 21
292 ALP025 Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 12
293 P VSC017 Visceral Neuropathy Familial 8
294 P MDL005 Medulloblastoma 77
295 P BRN035 Brain Stem Glioma 52
296 NRV004 Nerve Compression Syndrome 39
297 c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 31
298 PDT045 Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus Infections 29
299 NRP010 Neuropathy, Hereditary Motor and Sensory, Russe Type 29
300 c MNT296 Mental Retardation, X-Linked, Syndromic 34 26
301 MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 22
302 c MNT305 Mental Retardation, X-Linked 12 20
303 MCR046 Microcephaly Brain Defect Spasticity Hypernatremia 14
304 ACC001 Accessory Nerve Disease 13
305 HYP028 Hypoglossal Nerve Disease 12
306 CRN305 Corneal Neuropathic Disease 6
307 NRF007 Neurofibroma 67
308 DBT010 Diabetic Neuropathy 60
309 LGS001 Legius Syndrome 51
310 c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 45
311 c HYP441 Hyperphosphatasia with Mental Retardation Syndrome 1 31
312 MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 28
313 c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 21
314 ANG067 Angioma, Hereditary Neurocutaneous 16
315 VGS001 Vagus Nerve Disease 16
316 ANR007 Anorexia Nervosa 68
317 NRM005 Neuromuscular Disease 61
318 P CFF008 Coffin-Siris Syndrome 1 57
319 NRN001 Neuroendocrine Carcinoma 53
320 CRN031 Cranial Nerve Disease 43
321 CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 38
322 CRN033 Cranial Nerve Malignant Neoplasm 36
323 c CRD239 Ceroid Lipofuscinosis, Neuronal, 13 36
324 c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 34
325 c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 30
326 c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 27
327 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 26
328 c NRP036 Neuropathy, Hereditary Sensory, Type if 25
329 P NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 25
330 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 24
331 c CFF011 Coffin-Siris Syndrome 6 23
332 c NRP039 Neuropathy, Hereditary Sensory, Type Id 22
333 SYN062 Syncope, Familial Vasovagal 22
334 OLF001 Olfactory Nerve Disease 21
335 c CFF006 Coffin-Siris Syndrome 5 21
336 PRT015 Partial Third-Nerve Palsy 21
337 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 20
338 SPN350 Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration 20
339 SPS197 Spastic Paraplegia with Neuropathy and Poikiloderma 19
340 SYN092 Syndromic X-Linked Intellectual Disability Cabezas Type 18
341 c CFF013 Coffin-Siris Syndrome 8 14
342 c LPD015 Lipodystrophy, Familial Partial, Type 2 61
343 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 53
344 P FML012 Familial Partial Lipodystrophy 52
345 c LPD021 Lipodystrophy, Familial Partial, Type 3 50
346 c LPD019 Lipodystrophy, Partial, Acquired 45
347 c LPD040 Lipodystrophy, Familial Partial, Type 1 43
348 NRN016 Neuronal Migration Disorders 39
349 AMY086 Amyotrophy, Hereditary Neuralgic 38
350 c MTC010 Mitochondrial Dna Depletion Syndrome 37
351 c LPD034 Lipodystrophy, Familial Partial, Type 4 36
352 CNT007 Central Nervous System Tuberculosis 35
353 MNT310 Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 34
354 c MTC058 Mitochondrial Dna Depletion Syndrome 6 33
355 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 33
356 JHN004 Johnson Neuroectodermal Syndrome 32
357 c MTC088 Mitochondrial Dna Depletion Syndrome 13 31
358 c MTC062 Mitochondrial Dna Depletion Syndrome 2 30
359 c NRP062 Neuropathy - Hereditary 28
360 c MTC078 Mitochondrial Dna Depletion Syndrome 11 27
361 c LPD036 Lipodystrophy, Familial Partial, Type 6 25
362 c LPD044 Lipodystrophy, Familial Partial, Type 7 25
363 c LPD030 Lipodystrophy, Familial Partial, Type 5 24
364 c NRN027 Neuronopathy, Distal Hereditary Motor, Type I 24
365 c MTC126 Mitochondrial Dna Depletion Syndrome 14 23
366 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 23
367 c MTC129 Mitochondrial Dna Depletion Syndrome 15 23
368 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 22
369 DFN305 Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy 20
370 c MNT196 Mental Retardation, X-Linked 92 20
371 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 18
372 RLN001 Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 17
373 c RRM004 Rrm2b-Related Mitochondrial Dna Depletion Syndrome 16
374 P MTC014 Mitochondrial Dna Deletion Syndromes 13
375 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 9
376 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 9
377 PNF001 Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus Syndrome 7
378 ART141 Arteriovenous Malformations of the Brain 60
379 P CNG412 Congenital Disorder of Glycosylation, Type Ii 49
380 c CNG497 Congenital Disorder of Glycosylation, Type Iio 43
381 c CNG190 Congenital Disorder of Glycosylation, Type Iib 42
382 c CNG204 Congenital Disorder of Glycosylation, Type Iih 41
383 TTH004 Tethered Spinal Cord Syndrome 41
384 c CNG504 Congenital Disorder of Glycosylation, Type Iip 40
385 c CNG201 Congenital Disorder of Glycosylation, Type Iij 39
386 P MNT319 Mental Retardation, Autosomal Dominant 20 39
387 c CNG209 Congenital Disorder of Glycosylation, Type Iif 38
388 c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 38
389 c CNG383 Congenital Disorder of Glycosylation, Type Iik 37
390 MLN001 Melanotic Neuroectodermal Tumor 34
391 c CNG379 Congenital Disorder of Glycosylation, Type It 33
392 LJN003 Lujan-Fryns Syndrome 32
393 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
394 CRB024 Cerebral Neuroblastoma 31
395 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
396 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
397 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
398 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
399 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
400 c CNG194 Congenital Disorder of Glycosylation, Type Ig 29
401 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
402 c CNG414 Congenital Disorder of Glycosylation, Type Iil 28
403 CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 28
404 c CNG386 Congenital Disorder of Glycosylation, Type Iu 27
405 c CNG378 Congenital Disorder of Glycosylation, Type Ir 27
406 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27
407 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 26
408 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 26
409 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
410 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 26
411 c CNG498 Congenital Disorder of Glycosylation, Type Iin 26
412 c NRP043 Neuropathy, Hereditary Motor and Sensory, Type Vib 25
413 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 25
414 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
415 c MNT155 Mental Retardation, Autosomal Recessive 2 25
416 c CNG193 Congenital Disorder of Glycosylation, Type Ip 24
417 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
418 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 24
419 SLW005 Slowed Nerve Conduction Velocity, Autosomal Dominant 18
420 c MNT200 Mental Retardation, X-Linked 97 18
421 TRC015 Trochlear Nerve Disease 13
422 ADS006 Aids - Neurological Complications 5
423 OLF005 Olfactory Neuroblastoma 52
424 c MTC061 Mitochondrial Dna Depletion Syndrome 1 46
425 NRN005 Neuronal Ceroid-Lipofuscinoses 46
426 P ATS366 Autism X-Linked 2 45
427 c HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 41
428 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 40
429 P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 39
430 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 39
431 GLT018 Glut1 Deficiency Syndrome 1 39
432 OPT008 Optic Nerve Neoplasm 37
433 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies 36
434 P CNT037 Central Nervous System Germinoma 35
435 NRS005 Neurosarcoidosis 35
436 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 34
437 GLL028 Gillespie Syndrome 33
438 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 32
439 MNT302 Mental Retardation, X-Linked, Syndromic, Christianson Type 31
440 AMY005 Amyloid Neuropathy 31
441 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 29
442 PRM284 Primitive Neuroectodermal Tumor of the Cervix Uteri 27
443 THR010 Third Cranial Nerve Disease 26
444 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 26
445 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 25
446 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 25
447 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 25
448 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 25
449 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 24
450 NRD028 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 24
451 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 24
452 NRG006 Neurogenic Thoracic Outlet Syndrome 24
453 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 24
454 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 23
455 RCT005 Rectum Neuroendocrine Neoplasm 23
456 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 23
457 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 23
458 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 23
459 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 22
460 NRD057 Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects 22
461 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 22
462 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 22
463 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 22
464 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 22
465 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 22
466 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 22
467 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 22
468 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 22
469 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 21
470 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 21
471 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 21
472 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 21
473 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 21
474 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 21
475 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 21
476 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 21
477 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 20
478 MCR123 Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy 20
479 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 20
480 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 18
481 c EPL233 Epileptic Encephalopathy, Early Infantile, 69 17
482 c EPL234 Epileptic Encephalopathy, Early Infantile, 70 16
483 c EPL235 Epileptic Encephalopathy, Early Infantile, 71 15
484 SPN045 Spinal Cord Primitive Neuroectodermal Neoplasm 10
485 LWG004 Low-Grade Neuroendocrine Tumor of the Corpus Uteri 8
486 LPS008 Lupus - Neurological Sequelae 6
487 P NRB001 Neuroblastoma 73
488 P INT030 Intracranial Aneurysm 60
489 CYS005 Cysticercosis 59
490 ALX003 Alexander Disease 58
491 TRM010 Traumatic Brain Injury 56
492 NRL004 Neuroleptic Malignant Syndrome 51
493 NRF003 Neurofibrosarcoma 43
494 CNV002 Conversion Disorder 43
495 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 38
496 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 38
497 c CHR653 Charcot-Marie-Tooth Disease, Demyelinating, Type 1d 37
498 BRN005 Brain Glioblastoma Multiforme 36
499 CRT081 Cortical Dysplasia, Complex, with Other Brain Malformations 7 35
500 c CHR656 Charcot-Marie-Tooth Disease, Demyelinating, Type 1f 33
501 c TRC101 Trichothiodystrophy 4, Nonphotosensitive 30
502 VST006 Vestibulocochlear Nerve Disease 28
503 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
504 3MT022 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia 27
505 WSM002 Waisman Syndrome 25
506 MNT307 Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 24
507 c TRC103 Trichothiodystrophy 5, Nonphotosensitive 22
508 c TRC117 Trichothiodystrophy 6, Nonphotosensitive 20
509 c CRB195 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 19
510 c NRB015 Neuroblastoma 2 19
511 c NRP065 Neuropathy, Congenital Hypomyelinating, 3 19
512 CMP082 Complex Cortical Dysplasia with Other Brain Malformations 16
513 c NRN042 Neuronopathy, Distal Hereditary Motor, Type Ix 13
514 LYM055 Lyme Disease - Neurological Complications 7
515 c INT097 Intracranial Aneurysms Multiple Congenital Anomaly 3
516 P HNT016 Huntington Disease 74
517 MLT157 Multiple System Atrophy 1 73
518 P NRV007 Nervous System Disease 72
519 OBS002 Obsessive-Compulsive Disorder 69
520 c CNT035 Central Nervous System Disease 65
521 ACT049 Acute Disseminated Encephalomyelitis 56
522 c HNT010 Huntington Disease-Like 1 50
523 EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 44
524 P GST047 Gastrointestinal Neuroendocrine Tumor 41
525 P FRT001 Fourth Cranial Nerve Palsy 32
526 c JVN015 Juvenile Huntington Disease 30
527 ABC001 Abcd Syndrome 30
528 46X053 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 29
529 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 27
530 SPN043 Spinal Cord Glioma 27
531 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 26
532 PRN033 Paraneoplastic Neurologic Disorders 26
533 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 26
534 c MNT210 Mental Retardation, Autosomal Recessive 42 26
535 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 25
536 PRP075 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 24
537 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 23
538 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 23
539 c GNT040 Giant Axonal Neuropathy 2, Autosomal Dominant 23
540 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 22
541 c NRP055 Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive 22
542 CNG382 Congenital Cataracts, Hearing Loss, and Neurodegeneration 22
543 STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 22
544 HMR018 Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 22
545 c MNT236 Mental Retardation, Autosomal Dominant 39 22
546 NRL023 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 21
547 SPN026 Spinal Cord Lymphoma 21
548 NRD031 Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 21
549 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy 19
550 c NRP064 Neuropathy, Congenital Hypomyelinating, 2 19
551 MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 19
552 c HNT014 Huntington Disease-Like Syndrome Due to C9orf72 Expansions 17
553 CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 13
554 c CL4005 Col4a1-Related Brain Small-Vessel Disease 7
555 CRV044 Cervical Hypertrichosis Peripheral Neuropathy 5
556 LYM017 Lyme Disease 71
557 ATY005 Atypical Teratoid Rhabdoid Tumor 62
558 SPN041 Spinal Cord Disease 55
559 NRS003 Neurosyphilis 47
560 SPR008 Supratentorial Primitive Neuroectodermal Tumor 43
561 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 42
562 P CRN035 Cranial Nerve Palsy 41
563 P CRB059 Cerebellar Degeneration 40
564 SPR066 Superficial Siderosis 40
565 P SPN410 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 37
566 NRG003 Neurogenic Arthropathy 36
567 c ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 35
568 WHT019 White-Sutton Syndrome 35
569 TRS001 Tarsal Tunnel Syndrome 34
570 c CFF010 Coffin-Siris Syndrome 3 33
571 BRN049 Brain Tumor, Childhood 33
572 ATM098 Autoimmune Peripheral Neuropathy 32
573 P NNS031 Non-Syndromic Intellectual Disability 32
574 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 31
575 XGB001 Xia-Gibbs Syndrome 31
576 c PRM015 Primary Cerebellar Degeneration 27
577 OCL003 Oculomotor Nerve Paralysis 27
578 PDT043 Pediatric Acute-Onset Neuropsychiatric Syndrome 26
579 MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 26
580 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 26
581 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 26
582 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 25
583 c MNT270 Mental Retardation, Autosomal Recessive 53 25
584 c MNT295 Mental Retardation, X-Linked, Syndromic 33 25
585 c MNT262 Mental Retardation, Autosomal Dominant 42 24
586 CHL057 Childhood Brain Stem Glioma 22
587 c CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 22
588 CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 22
589 ARM006 Armfield X-Linked Mental Retardation Syndrome 22
590 CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 20
591 CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 20
592 CRT073 Cortical Dysplasia, Complex, with Other Brain Malformations 5 20
593 CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 20
594 NRF025 Neurofibromatosis, Type Iii, Mixed Central and Peripheral 19
595 RDL001 Radial Nerve Lesion 17
596 DFF020 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia 16
597 PRN063 Peroneal Nerve, Accessory Deep 16
598 CTR173 Cataract, Ataxia, Short Stature, and Mental Retardation 15
599 HGH030 High-Grade Neuroendocrine Carcinoma of the Cervix Uteri 12
600 XLN174 X-Linked Non-Syndromic Sensorineural Deafness Type Dfn 12
601 NRV002 Nerve Fibre Bundle Defect 11
602 LNG002 Lung Combined Large Cell Neuroendocrine Carcinoma 11
603 SYN083 Syndromic X-Linked Intellectual Disability Shashi Type 10
604 TTL002 Total Third-Nerve Palsy 9
605 MLG073 Malignant Melanocytic Neoplasm of the Peripheral Nerve Sheath 8
606 MLG028 Malignant Neoplasm of Acoustic Nerve 8
607 HGH029 High-Grade Neuroendocrine Carcinoma of the Corpus Uteri 8
608 SPN022 Spinal Cord Neuroblastoma 8
609 MCR286 Microcephaly-Intellectual Disability-Phalangeal and Neurological Anomalies Syndrome 8
610 c OPT030 Optic Nerve Hypoplasia, Familial Bilateral 7
611 c ADL022 Adult Central Nervous System Primitive Neuroectodermal Neoplasm 6
612 CHL022 Childhood Central Nervous System Primitive Neuroectodermal Neoplasm 6
613 ART040 Arthrogryposis Epileptic Seizures Migrational Brain Disorder 5
614 MBS003 Moebius Axonal Neuropathy Hypogonadism 4
615 TMR014 Tumor of Cranial and Spinal Nerves 4
616 ASY002 Asymptomatic Neurosyphilis 42
617 P SPS133 Spastic Paraplegia 2, X-Linked 40
618 FMR003 Femoral Neuropathy 39
619 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 38
620 BRN036 Brain Stem Infarction 37
621 c ADL054 Adult Brain Stem Glioma 36
622 BRK002 Birk-Barel Syndrome 35
623 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 34
624 SCH074 Schuurs-Hoeijmakers Syndrome 34
625 TBS001 Tabes Dorsalis 34
626 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 32
627 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 31
628 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 30
629 c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 29
630 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 29
631 c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 28
632 c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 27
633 c MNT157 Mental Retardation, Autosomal Dominant 18 25
634 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 24
635 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24
636 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 24
637 c MNT273 Mental Retardation, Autosomal Dominant 44 23
638 CRT082 Cortical Dysplasia, Complex, with Other Brain Malformations 8 23
639 MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 22
640 c GLY103 Glycosylphosphatidylinositol Biosynthesis Defect 15 22
641 TRT002 Tertiary Neurosyphilis 21
642 KHR001 Kahrizi Syndrome 21
643 c GLY108 Glycosylphosphatidylinositol Biosynthesis Defect 18 20
644 P CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 20
645 c SPS062 Spastic Paraplegia 34, X-Linked 20
646 c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 19
647 P GLY106 Glycosylphosphatidylinositol Biosynthesis Defect 11 19
648 BRN011 Brain Stem Astrocytic Neoplasm 18
649 c NRB014 Neuroblastoma 3 17
650 NRD051 Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness 16
651 LCL011 Localized Hypertrophic Neuropathy 15
652 CHL055 Childhood Germ Cell Brain Tumor 8
653 STR067 Stroke, Ischemic 84
654 P MNN013 Meningitis 71
655 P TRC102 Trichothiodystrophy 1, Photosensitive 59
656 BRN071 Brain Injury 54
657 ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 49
658 CNT025 Central Pontine Myelinolysis 48
659 P CHR342 Chiari Malformation 46
660 NRN008 Neuronal Intranuclear Inclusion Disease 45
661 HLS003 Helsmoortel-Van Der Aa Syndrome 41
662 c CFF009 Coffin-Siris Syndrome 4 40
663 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 38
664 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 38
665 P MYC078 Myoclonus and Ataxia 37
666 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 37
667 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 37
668 MLG041 Malignant Triton Tumor 35
669 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 35
670 CRN034 Cranial Nerve Neoplasm 35
671 c CHR091 Chronic Meningitis 33
672 SPN185 Spinal Cord Infarction 33
673 c MCR329 Microcephaly, Autosomal Dominant 32
674 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 32
675 TMT003 Temtamy Syndrome 30
676 c CFF007 Coffin-Siris Syndrome 2 29
677 c MNT185 Mental Retardation, Autosomal Dominant 7 29
678 P SPN042 Spinal Cord Ependymoma 28
679 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 28
680 MDR004 Madras Motor Neuron Disease 28
681 c MNT246 Mental Retardation, Autosomal Dominant 38 27
682 c MNT212 Mental Retardation, Autosomal Dominant 26 27
683 c MNT241 Mental Retardation, Autosomal Dominant 32 26
684 c MNT219 Mental Retardation, Autosomal Dominant 30 26
685 P MNT298 Mental Retardation, X-Linked, Syndromic, 35 25
686 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 25
687 c MNT322 Mental Retardation, Autosomal Dominant 27 25
688 c MNT214 Mental Retardation, Autosomal Dominant 24 25
689 c MNT325 Mental Retardation, Autosomal Recessive 61 24
690 c MNT222 Mental Retardation, Autosomal Dominant 29 24
691 ENC047 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 24
692 CLN039 Cln4 Disease 24
693 c MNT150 Mental Retardation, Autosomal Recessive 15 23
694 c MNT239 Mental Retardation, Autosomal Dominant 35 23
695 c MNT238 Mental Retardation, Autosomal Dominant 34 23
696 c MNT226 Mental Retardation, Autosomal Dominant 31 23
697 c MNT272 Mental Retardation, Autosomal Dominant 41 23
698 c MCR269 Microcephaly 15, Primary, Autosomal Recessive 23
699 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 23
700 c MNT184 Mental Retardation, Autosomal Dominant 11 23
701 c MNT321 Mental Retardation, Autosomal Recessive 37 23
702 c MNT186 Mental Retardation, Autosomal Dominant 10 23
703 c MNT324 Mental Retardation, Autosomal Dominant 49 22
704 PRM183 Primary Aldosteronism, Seizures, and Neurologic Abnormalities 22
705 c MNT211 Mental Retardation, Autosomal Dominant 23 22
706 c MNT179 Mental Retardation, Autosomal Dominant 21 22
707 c MNT245 Mental Retardation, Autosomal Dominant 36 22
708 c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 22
709 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 21
710 c MNT207 Mental Retardation, X-Linked, Syndromic 32 21
711 OVR005 Ovarian Large-Cell Neuroendocrine Carcinoma 21
712 c MNT240 Mental Retardation, Autosomal Dominant 33 21
713 c MCR360 Microcephaly 20, Primary, Autosomal Recessive 21
714 MNT058 Mental Retardation, X-Linked, Syndromic, Turner Type 20
715 NRD040 Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter 20
716 EPL170 Epilepsy-Aphasia Spectrum 20
717 c MCR356 Microcephaly 19, Primary, Autosomal Recessive 20
718 c MNT154 Mental Retardation, Autosomal Recessive 14 20
719 NRD026 Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies 20
720 c MNT151 Mental Retardation, Autosomal Recessive 18 19
721 c MCR361 Microcephaly 21, Primary, Autosomal Recessive 18
722 c MCR362 Microcephaly 22, Primary, Autosomal Recessive 18
723 BKR002 Baker-Gordon Syndrome 18
724 MNT057 Mental Retardation, X-Linked, Syndromic, Raymond Type 18
725 P BRN030 Brain Ependymoma 17
726 KRK002 Karak Syndrome 17
727 c MCR363 Microcephaly 23, Primary, Autosomal Recessive 16
728 PNC065 Pinched Nerve 16
729 c MCR368 Microcephaly 24, Primary, Autosomal Recessive 16
730 c GSR001 Gosr2-Related Progressive Myoclonus Ataxia 15
731 c CHR161 Chiari Malformation Type 3 11
732 c MCR372 Microcephaly 25, Primary, Autosomal Recessive 10
733 SPN003 Spinal Cord Dermoid Cyst 9
734 c CHR162 Chiari Malformation Type 4 7
735 ICH006 Ichthyosis Alopecia Eclabion Ectropion Mental Retardation 6
736 PLT009 Pili Torti Developmental Delay Neurological Abnormalities 6
737 BRN069 Brain and Spinal Tumors 5
738 GTD002 Gatad2b-Associated Neurodevelopmental Disorder 5
739 P EPL164 Epilepsy 73
740 CRB037 Cerebral Palsy 71
741 P MCR115 Microvascular Complications of Diabetes 5 71
742 c MCR129 Microvascular Complications of Diabetes 1 66
743 c MCR113 Microvascular Complications of Diabetes 3 58
744 c EPS042 Episodic Ataxia, Type 1 58
745 c EPS035 Episodic Ataxia, Type 2 57
746 THR013 Thoracic Outlet Syndrome 57
747 P TRN034 Transverse Myelitis 54
748 PRN023 Prion Disease 53
749 WRN002 Wernicke-Korsakoff Syndrome 53
750 c GM2005 Gm2-Gangliosidosis, Ab Variant 49
751 P LSS002 Lissencephaly 49
752 c GM2006 Gm2 Gangliosidosis 49
753 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 49
754 PPL058 Papilloma of Choroid Plexus 48
755 ISC002 Ischemic Optic Neuropathy 48
756 P GNG009 Gangliosidosis 47
757 CRB150 Cerebral Creatine Deficiency Syndrome 2 46
758 c MCR120 Microvascular Complications of Diabetes 7 46
759 c ACT159 Acute Transverse Myelitis 45
760 P PRV002 Periventricular Nodular Heterotopia 45
761 c BNG023 Benign Familial Infantile Epilepsy 44
762 c MCR133 Microvascular Complications of Diabetes 4 43
763 c MCR130 Microvascular Complications of Diabetes 6 43
764 c MCR112 Microvascular Complications of Diabetes 2 42
765 CRB033 Cerebral Degeneration 42
766 CDQ001 Cauda Equina Syndrome 40
767 PLX002 Plexiform Neurofibroma 40
768 c EPS017 Episodic Ataxia, Type 6 36
769 DYS006 Dysembryoplastic Neuroepithelial Tumor 36
770 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 36
771 c EPS037 Episodic Ataxia, Type 4 31
772 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 31
773 c ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 31
774 c EPS015 Episodic Ataxia, Type 7 30
775 SML004 Small Intestine Neuroendocrine Neoplasm 29
776 HNM002 Hinman Syndrome 29
777 HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 29
778 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 29
779 MLS013 Miles-Carpenter Syndrome 28
780 MTR031 Motor Neuro-Ophthalmic Disorders 27
781 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 26
782 NRP048 Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration 26
783 BRK011 Brooks-Wisniewski-Brown Syndrome 25
784 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 24
785 P MNT198 Mental Retardation, X-Linked 98 23
786 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 23
787 c EPS014 Episodic Ataxia, Type 3 23
788 TRG004 Trigeminal Nerve Neoplasm 23
789 c CHR622 Charcot-Marie-Tooth Disease Type 2a2 23
790 c MNT191 Mental Retardation, X-Linked, Syndromic 17 22
791 OLF004 Olfactory Nerve Neoplasm 22
792 c EPS033 Episodic Ataxia, Type 8 21
793 MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 20
794 c EPS034 Episodic Ataxia, Type 5 20
795 MNT320 Mental Retardation, Autosomal Dominant 6, with or Without Seizures 20
796 c NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 20
797 MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 20
798 MNT283 Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly 18
799 MCR333 Microcephaly, Seizures, Spasticity, and Brain Calcifications 18
800 CNT029 Central Nervous System Endodermal Sinus Tumor 18
801 ACT231 Acute Flaccid Myelitis 18
802 c VSC054 Visceral Neuropathy, Familial, Autosomal Recessive 17
803 NRD004 Neurodegeneration Due to Cerebral Folate Transport Deficiency 17
804 MNT257 Mental Retardation, X-Linked, with Craniofacial Dysmorphism 17
805 FLL034 Fallot Complex with Severe Mental and Growth Retardation 17
806 DPB002 Deep Brain Stimulation for Movement Disorders 16
807 LRY013 Laryngeal Neuroendocrine Tumor 16
808 ABD008 Abidi X-Linked Mental Retardation Syndrome 16
809 CHL003 Childhood Spinal Cord Tumor 16
810 MTR078 Motor Neuropathy, Peripheral, with Dysautonomia 16
811 BNP001 Bone Peripheral Neuroepithelioma 16
812 CRN293 Craniosynostosis-Mental Retardation-Clefting Syndrome 15
813 NRD042 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy 14
814 IDP022 Idiopathic Spinal Cord Herniation 13
815 c PRV013 Periventricular Nodular Heterotopia 3 12
816 c VSC056 Visceral Neuropathy, Familial, Autosomal Dominant 12
817 FCL002 Facial Nerve Neoplasm 11
818 SPN007 Spinal Cord Oligodendroglioma 11
819 c ATS388 Autosomal Dominant Non-Syndromic Intellectual Disability 6 11
820 SYN081 Syndromic X-Linked Intellectual Disability Abidi Type 11
821 BRN025 Brainstem Intraparenchymal Clear Cell Meningioma 10
822 XLN023 X-Linked Mental Retardation Craniofacial Abnormal Microcephaly Club 10
823 CNG458 Congenital Abducens Nerve Palsy 10
824 VGS002 Vagus Nerve Neoplasm 9
825 SYN090 Syndromic X-Linked Intellectual Disability Turner Type 9
826 c GM2001 Gm2 Gangliosidosis, 0 Variant 9
827 ADL035 Adult Spinal Cord Glioblastoma Multiforme 9
828 ADL021 Adult Brainstem Gliosarcoma 9
829 ANL010 Anal Neuroendocrine Tumor 8
830 PRM283 Primitive Neuroectodermal Tumor of the Corpus Uteri 7
831 TRC009 Trochlear Nerve Neoplasm 7
832 CRN032 Cranial Nerve Iii Tumor 7
833 ADL003 Adult Brainstem Mixed Glioma 7
834 BLT005 Bilateral Meningioma of Optic Nerve 7
835 CLS051 Classic Neuroendocrine Tumor of Appendix 7
836 MLG027 Malignant Oculomotor Nerve Tumor 7
837 c GM2002 Gm2-Gangliosidosis, B, B1, Ab Variant 7
838 SPN001 Spinal Accessory Nerve Neoplasm 6
839 ABD001 Abducens Nerve Neoplasm 6
840 HYP079 Hypoglossal Nerve Neoplasm 6
841 ALZ051 Alzheimer Disease Without Neurofibrillary Tangles 6
842 GLS002 Glossopharyngeal Nerve Neoplasm 6
843 CHL005 Childhood Mediastinal Neurogenic Tumor 6
844 c SCN040 Secondary Acute Transverse Myelitis 6
845 c DPD002 Depdc5-Related Epilepsy 5
846 ARN002 Arnold Stickler Bourne Syndrome 5
847 VSC023 Vasculitis Syndromes of the Central and Peripheral Nervous Systems 5
848 THM007 Thumb Stiff Brachydactyly Mental Retardation 4
849 P BNG037 Benign Angiitis of the Central Nervous System 4
850 NRL012 Neurological Manifestations of Pompe Disease 4
851 c KCN020 Kcnt1-Related Epilepsy 4
852 PST045 Post-Streptococcal Neurologic Disorders 3
853 P ANG001 Angelman Syndrome 65
854 P GLM040 Glioma Susceptibility 1 64
855 TRG002 Trigeminal Neuralgia 60
856 BRN004 Brain Edema 59
857 SPN020 Spondylosis 52
858 PRR007 Perry Syndrome 51
859 P RSM001 Rasmussen Encephalitis 49
860 P PRN026 Porencephaly 49
861 MNN028 Mononeuropathy of the Median Nerve, Mild 46
862 OPT007 Optic Nerve Glioma 45
863 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 41
864 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 40
865 BRC011 Brachial Plexus Neuropathy 40
866 NRM006 Neuromuscular Junction Disease 38
867 P SPS008 Spastic Ataxia 37
868 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 37
869 c SPN247 Spinocerebellar Ataxia Type 19/22 37
870 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 36
871 P PRS124 Presynaptic Congenital Myasthenic Syndromes 36
872 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 34
873 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 34
874 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 33
875 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 33
876 NRT011 Neurotrophic Keratopathy 32
877 PDN001 Pudendal Neuralgia 32
878 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 32
879 c FML084 Familial Porencephaly 32
880 ULN001 Ulnar Neuropathy 30
881 GRN004 Granulomatous Amebic Encephalitis 30
882 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 29
883 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 28
884 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 28
885 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 27
886 c MNT248 Mental Retardation, X-Linked 102 27
887 PRN008 Peroneal Nerve Paralysis 27
888 c SPS212 Spastic Ataxia 5, Autosomal Recessive 26
889 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 26
890 c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 25
891 P DST101 Distal Hereditary Motor Neuropathies 25
892 c MNT158 Mental Retardation, Autosomal Dominant 22 25
893 MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 25
894 SPR032 Superficial Siderosis of the Central Nervous System 25
895 HRT037 Heart and Brain Malformation Syndrome 25
896 c SPS208 Spastic Ataxia 4, Autosomal Recessive 24
897 c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 24
898 c MNT183 Mental Retardation, Autosomal Recessive 36 24
899 P CNT044 Central Nervous System Primitive Neuroectodermal Neoplasm 24
900 c RSM003 Rasmussen Subacute Encephalitis 23
901 NRF016 Neurofibromatosis, Familial Spinal 23
902 ANT066 Anterior Cutaneous Nerve Entrapment Syndrome 23
903 c SPN102 Spinocerebellar Ataxia 30 23
904 TNN015 Tonne-Kalscheuer Syndrome 23
905 c SPS136 Spastic Ataxia 3, Autosomal Recessive 23
906 c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 22
907 c SPS191 Spastic Ataxia 7, Autosomal Dominant 22
908 NRD023 Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language 21
909 ENC050 Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 21
910 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 21
911 ENC059 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity 21
912 c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 20
913 CHR655 Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive 20
914 c SPN107 Spinocerebellar Ataxia 9 20
915 c GLM025 Glioma Susceptibility 2 19
916 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 19
917 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 19
918 c MNT224 Mental Retardation, X-Linked 101 19
919 P ALP076 Alopecia-Mental Retardation Syndrome 1 18
920 BCK018 Bickerstaff Brainstem Encephalitis 18
921 c MNT218 Mental Retardation, X-Linked 99 18
922 c MNT294 Mental Retardation, X-Linked 106 18
923 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 17
924 c MNT223 Mental Retardation, X-Linked 100 17
925 c GLM043 Glioma Susceptibility 9 17
926 c GLM047 Glioma Susceptibility 3 17
927 PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 16
928 NRD049 Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or Without Seizures 16
929 c MYS082 Myasthenic Syndrome, Congenital, 25, Presynaptic 15
930 c MYS081 Myasthenic Syndrome, Congenital, 24, Presynaptic 14
931 SPN004 Spinal Cord Lipoma 14
932 c MYS080 Myasthenic Syndrome, Congenital, 23, Presynaptic 14
933 c ACQ029 Acquired Porencephaly 13
934 ATN001 Autonomic Peripheral Neuropathy 12
935 c ANG059 Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 11
936 c GRD008 Grid2-Related Spinocerebellar Ataxia 11
937 c SPS214 Spastic Ataxia 4 10
938 c SPS171 Spastic Ataxia 5 10
939 CHL017 Childhood Brain Meningioma 9
940 c ANG053 Angelman Syndrome Due to Maternal 15q11q13 Deletion 9
941 c SPS163 Spastic Ataxia 3 9
942 c SPS162 Spastic Ataxia 1 9
943 c GLM019 Glioma Susceptibility 4 9
944 c GLM021 Glioma Susceptibility 6 9
945 c GLM022 Glioma Susceptibility 8 9
946 c ANG052 Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 8
947 c SPS170 Spastic Ataxia 2 8
948 c GLM020 Glioma Susceptibility 5 8
949 c GLM038 Glioma Susceptibility 7 8
950 NRD061 Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities 8
951 c SPS172 Spastic Ataxia 7 8
952 c SPS229 Spastic Ataxia 8 8
953 BRN023 Brain Stem Ependymoma 7
954 c ENC068 Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect 7
955 c ANG058 Angelman Syndrome Due to a Point Mutation 6
956 MDS014 Mediastinum Neuroblastoma 6
957 MTR033 Motor Sensory Neuropathy Type 1 Aplasia Cutis Congenita 3
958 ART005 Arteriovenous Malformation 66
959 P ENC018 Encephalopathy 65
960 P NRP001 Neuropathy 63
961 TRN015 Transient Cerebral Ischemia 59
962 GLM004 Gliomatosis Cerebri 58
963 P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 57
964 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56
965 GNG005 Gangliocytoma 52
966 P SYR001 Syringomyelia 51
967 P AST007 Astrocytoma 51
968 c PRM092 Primary Lateral Sclerosis, Adult, 1 47
969 c MLG068 Malignant Glioma 47
970 CNT046 Central Nervous System Vasculitis 47
971 BRC010 Brachial Plexus Lesion 46
972 ATN004 Autonomic Neuropathy 46
973 BRN032 Brain Glioma 45
974 MDL002 Medulloepithelioma 45
975 BRN080 Brain Ischemia 43
976 P HYP265 Hypotonia 43
977 EST003 Eastern Equine Encephalitis 39
978 c PSD106 Pseudo-Torch Syndrome 1 38
979 CNT041 Central Nervous System Melanocytic Neoplasm 36
980 TRG003 Trigeminal Nerve Disease 35
981 VST001 Vestibular Neuronitis 35
982 P SCH017 Schindler Disease 35
983 CHR543 Chromosome 2q37 Deletion Syndrome 35
984 BRN031 Brain Germinoma 34
985 GLS004 Glossopharyngeal Neuralgia 34
986 P ATN003 Autonomic Nervous System Neoplasm 34
987 c CHR670 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 33
988 c PNT044 Pontocerebellar Hypoplasia, Type 2a 32
989 PLY158 Polyglucosan Body Neuropathy, Adult Form 31
990 PLM039 Pulmonary Neuroendocrine Tumor 31
991 MND023 Mend Syndrome 28
992 BRN021 Brain Sarcoma 28
993 CNT109 Central Nervous System Benign Neoplasm 26
994 BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 26
995 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 26
996 BRN008 Brain Compression 25
997 c MNT145 Mental Retardation, Autosomal Recessive 5 25
998 c MNT280 Mental Retardation, Autosomal Dominant 43 25
999 BRS005 Breast Neuroendocrine Neoplasm 25
1000 c MNT166 Mental Retardation, Autosomal Recessive 39 25
1001 c MNT213 Mental Retardation, Autosomal Recessive 40 24
1002 OHD003 Ohdo Syndrome, X-Linked 24
1003 c MNT328 Mental Retardation, Autosomal Dominant 52 24
1004 ALC002 Alcohol-Related Neurodevelopmental Disorder 24
1005 c MNT244 Mental Retardation, Autosomal Recessive 49 24
1006 c MNT242 Mental Retardation, Autosomal Dominant 40 23
1007 c MNT216 Mental Retardation, Autosomal Recessive 41 23
1008 c MNT176 Mental Retardation, Autosomal Recessive 38 23
1009 c MNT221 Mental Retardation, Autosomal Recessive 44 22
1010 c MNT177 Mental Retardation, Autosomal Recessive 27 22
1011 P TRC034 Torch Syndrome 22
1012 AMM001 Amme Complex 22
1013 c MNT323 Mental Retardation, Autosomal Dominant 48 21
1014 c MNT227 Mental Retardation, Autosomal Recessive 46 21
1015 c SCN048 Secondary Syringomyelia 21
1016 NRD029 Neurodevelopmental Disorder with Involuntary Movements 21
1017 c JVN001 Juvenile Astrocytoma 21
1018 P ENC046 Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy 21
1019 HYD065 Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies 21
1020 c MNT234 Mental Retardation, Autosomal Recessive 48 21
1021 c MNT220 Mental Retardation, Autosomal Recessive 45 20
1022 c MNT286 Mental Retardation, Autosomal Dominant 45 20
1023 c MNT329 Mental Retardation, Autosomal Dominant 53 20
1024 c MNT279 Mental Retardation, Autosomal Dominant 47 20
1025 c MNT330 Mental Retardation, Autosomal Dominant 54 20
1026 c MNT327 Mental Retardation, Autosomal Dominant 51 20
1027 c MNT215 Mental Retardation, Autosomal Recessive 43 20
1028 c MNT225 Mental Retardation, Autosomal Recessive 47 20
1029 c MNT326 Mental Retardation, Autosomal Dominant 50 20
1030 c MNT332 Mental Retardation, Autosomal Dominant 56 20
1031 c MNT278 Mental Retardation, Autosomal Dominant 46 19
1032 P HYP830 Hypomagnesemia, Seizures, and Mental Retardation 1 19
1033 LSN001 Lesion of Sciatic Nerve 19
1034 c MNT264 Mental Retardation, Autosomal Recessive 52 18
1035 c MNT243 Mental Retardation, Autosomal Recessive 50 18
1036 ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 18
1037 BRN007 Brain Oligodendroglioma 17
1038 c MNT195 Mental Retardation, X-Linked 96 15
1039 SCH001 Schwannoma of Twelfth Cranial Nerve 15
1040 NRD058 Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures 15
1041 NRD038 Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy 15
1042 MNT107 Mental Retardation, Fra12a Type 14
1043 c PNT052 Pontocerebellar Hypoplasia, Type 12 14
1044 FLP002 Floppy Infant Syndrome 13
1045 CRT087 Cortical Dysplasia, Complex, with Other Brain Malformations 9 13
1046 NRP058 Neuropathy, Hereditary Sensory, X-Linked 13
1047 NRP057 Neuropathy, Hereditary Sensory, Atypical 12
1048 c PRM168 Primary Syringomyelia 11
1049 c FML255 Familial Syringomyelia 10
1050 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 10
1051 CHL051 Childhood Brain Germinoma 9
1052 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 8
1053 CNT013 Central Nervous System Leiomyoma 8
1054 BRN020 Brain Stem Angioblastoma 8
1055 CLP007 Clpb Deficiency 8
1056 SCR027 Sacral Nerve Root Cysts 7
1057 HRD105 Hereditary Sensorimotor Neuropathy with Hyperelastic Skin 5
1058 NRL011 Neurological Consequences of Cytomegalovirus Infection 4
1059 ANX010 Anxiety 73
1060 P ENC004 Encephalitis 66
1061 P SZR006 Seizure Disorder 61
1062 P SYP003 Syphilis 58
1063 HMN009 Hemangioblastoma 57
1064 P TRM003 Tremor 56
1065 P GLM045 Glioma 56
1066 RRR001 Rere-Related Disorders 55
1067 P SLL003 Salla Disease 53
1068 NRM004 Neuroma 52
1069 HYD061 Hydrocephalus, Normal-Pressure 52
1070 c RBN021 Rubinstein-Taybi Syndrome 1 48
1071 NNT033 Neonatal Hypoxic and Ischemic Brain Injury 48
1072 CRB090 Cerebral Hypoxia 47
1073 DBT002 Diabetic Autonomic Neuropathy 46
1074 ARC002 Arachnoiditis 46
1075 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 44
1076 c PRM022 Primary Syphilis 44
1077 MNN017 Mononeuropathy 43
1078 P HMF004 Hemifacial Spasm 43
1079 c SPN265 Spinocerebellar Ataxia 36 43
1080 STL001 St. Louis Encephalitis 41
1081 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 41
1082 c CNG033 Congenital Syphilis 41
1083 CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 41
1084 CRB148 Cerebral Creatine Deficiency Syndrome 3 40
1085 c CNG031 Congenital Nervous System Abnormality 40
1086 OHD004 Ohdo Syndrome 40
1087 c SCN006 Secondary Syphilis 39
1088 HYP264 Hypertonia 37
1089 NRX001 Neuroaxonal Dystrophy 35
1090 PRM205 Primary Hepatic Neuroendocrine Carcinoma 34
1091 EPD005 Epidural Abscess 34
1092 SPN018 Spinal Cord Astrocytoma 34
1093 PRN016 Peroneal Neuropathy 34
1094 FST001 Foster-Kennedy Syndrome 33
1095 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 32
1096 NRG001 Neurogenic Bowel 32
1097 FCL011 Facial Nerve Disease 31
1098 ISC001 Ischemic Neuropathy 30
1099 CKS001 Ck Syndrome 30
1100 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 30
1101 c LSS010 Lissencephaly 4 29
1102 c TRM024 Tremor, Hereditary Essential, 1 29
1103 EPT008 Epithelioid Malignant Peripheral Nerve Sheath Tumor 29
1104 NRN045 Neuroendocrine Neoplasm of Appendix 29
1105 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 29
1106 NRS001 Neuroschistosomiasis 28
1107 LKN024 Leukoencephalopathy, Brain Calcifications, and Cysts 27
1108 c SNS009 Sensory Neuropathy Type 1 27
1109 c MLT009 Multiple Cranial Nerve Palsy 26
1110 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 26
1111 c LTC001 Late Congenital Syphilis 25
1112 EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 24
1113 TBL007 Tibial Neuropathy 23
1114 ILL008 Ileal Neuroendocrine Tumor 22
1115 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 22
1116 c CHR682 Chronic Bilirubin Encephalopathy 22
1117 c HMF011 Hemifacial Spasm, Familial 21
1118 RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 21
1119 c ERL002 Early Congenital Syphilis 21
1120 CRB198 Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome 21
1121 HLL013 Hall-Riggs Mental Retardation Syndrome 21
1122 ESP009 Esophageal Neuroendocrine Tumor 21
1123 c CHR678 Charcot-Marie-Tooth Disease, Axonal, Type 2dd 21
1124 PLY113 Polyneuropathy Associated with Igm Monoclonal Gammapathy with Anti-Mag 21
1125 c CHR115 Charcot-Marie-Tooth Neuropathy Type 2a 20
1126 BLP044 Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 20
1127 GMS002 Gms Syndrome 19
1128 MYC075 Myoclonus, Intractable, Neonatal 19
1129 P BRN140 Brain Small Vessel Disease 2 19
1130 SPN424 Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits 19
1131 c TRM020 Tremor, Hereditary Essential, 2 18
1132 c TRM022 Tremor, Hereditary Essential, 5 18
1133 YLK002 Yolk Sac Tumor of Central Nervous System 18
1134 INT022 Intracranial Primitive Neuroectodermal Tumor 18
1135 c INF044 Infantile Axonal Neuropathy 18
1136 c GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 18
1137 PBL004 Piebald Trait with Neurologic Defects 17
1138 LMB066 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 17
1139 ULN002 Ulnar Nerve Lesion 17
1140 P ACT241 Acute Bilirubin Encephalopathy 17
1141 OVR004 Ovary Neuroendocrine Neoplasm 17
1142 WLF012 Wolff Mental Retardation Syndrome 17
1143 P NNP004 Nonphotosensitive Trichothiodystrophy 17
1144 c TRM017 Tremor, Hereditary Essential, 4 16
1145 PTR031 Pterygium Colli and Mental Retardation with Facial and Digital Anomalies 16
1146 BRN027 Brain Angioma 16
1147 MNN005 Meningovascular Neurosyphilis 16
1148 NRP006 Neuropathy, Congenital, with Arthrogryposis Multiplex 16
1149 ULN022 Ulnar Hypoplasia with Mental Retardation 16
1150 c MNT204 Mental Retardation, X-Linked 23 16
1151 c MNT202 Mental Retardation, X-Linked 53 16
1152 VSC048 Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome 16
1153 PRS131 Prostate Cancer/brain Cancer Susceptibility 15
1154 SPN025 Spinal Cord Melanoma 15
1155 NRC007 Neuroectodermal Endocrine Syndrome 15
1156 SPN347 Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 15
1157 c CHR120 Charcot-Marie-Tooth Neuropathy X Type 1 15
1158 HYP687 Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy 15
1159 SCH022 Schimke X-Linked Mental Retardation Syndrome 15
1160 HYP183 Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features 15
1161 PRP102 Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development 15
1162 CNG457 Congenital Oculomotor Nerve Palsy 15
1163 P MNT312 Mental Health Wellness 1 15
1164 GLS008 Glossopharyngeal Nerve Disease 15
1165 SPS218 Spastic Diplegia and Mental Retardation 14
1166 NRP047 Neuropathy, Hereditary Thermosensitive 14
1167 RNL088 Renal Cell Carcinoma Associated with Neuroblastoma 14
1168 c ATS261 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 14
1169 PRS017 Prostate Neuroendocrine Neoplasm 14
1170 OCL024 Ocular Neuromyotonia 14
1171 SPR039 Supratentorial Primitive Neuroectodermal Tumors, Childhood 14
1172 NRD059 Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy 13
1173 EFV001 Efavirenz, Poor Metabolism of 13
1174 c SZR011 Seizures, Benign Familial Infantile, 4 12
1175 CNG362 Congenital Trochlear Nerve Palsy 12
1176 SPN024 Spinal Cord Sarcoma 12
1177 NRH002 Neurohypophysis Granular Cell Tumor 12
1178 HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 11
1179 c NRB012 Neuroblastoma 5 11
1180 c TRM016 Tremor, Hereditary Essential, 3 11
1181 P FTL014 Fetal Brain Disruption Sequence 11
1182 CLN014 Colon Neuroendocrine Neoplasm 11
1183 MNT311 Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration 11
1184 OST048 Osteopetrosis and Infantile Neuroaxonal Dystrophy 11
1185 c PMP012 Pmp2-Related Charcot-Marie-Tooth Disease Type 1 11
1186 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 11
1187 NRD060 Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 11
1188 P NRP005 Neuropathy Sensory Spastic Paraplegia 10
1189 c DNM001 Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy 10
1190 KCN019 Kcnk9 Imprinting Syndrome 10
1191 CRB010 Cerebellopontine Angle Primitive Neuroectodermal 10
1192 SPN002 Spinal Cord Intramedullary Teratoma 10
1193 PRP096 Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 10
1194 CNT023 Central Nervous System Hemangioma 10
1195 c NRB013 Neuroblastoma 6 10
1196 c NRB011 Neuroblastoma 4 10
1197 c NRB016 Neuroblastoma 7 10
1198 c INT094 Intermediate Severe Salla Disease 10
1199 c ATS389 Autosomal Dominant Non-Syndromic Intellectual Disability 8 9
1200 NRF005 Neurofibroma of Gallbladder 9
1201 c SCN009 Scn1a-Related Seizure Disorders 9
1202 SYN093 Syndromic X-Linked Intellectual Disability Raymond Type 9
1203 c ATS417 Autosomal Dominant Non-Syndromic Intellectual Disability 19 9
1204 CLL024 Colloid Cysts of Third Ventricle 8
1205 ATM073 Autoimmune-Related Retinopathy and Optic Neuropathy 8
1206 NRF001 Neurofibroma of Spinal Cord 8
1207 NRF006 Neurofibroma of the Heart 8
1208 SFT001 Soft Tissue Peripheral Neuroepithelioma 8
1209 MLG125 Malignant Mediastinal Neurogenic Neoplasm 8
1210 c SVR017 Severe Infantile Axonal Neuropathy 8
1211 SNL005 Senile Degeneration of Brain 8
1212 P RBN007 Rubinstein Taybi Like Syndrome 7
1213 MLG057 Malignant Cardiac Peripheral Nerve Sheath Neoplasm 7
1214 c ADL036 Adult Central Nervous System Germinoma 7
1215 c MNT313 Mental Health Wellness 2 7
1216 HRD181 Hereditary Neuroendocrine Tumor of Small Intestine 7
1217 P ADL055 Adult Central Nervous System Teratoma 7
1218 NRN043 Neuroendocrine Neoplasm of Esophagus 7
1219 NSL005 Nasal Cavity Olfactory Neuroblastoma 7
1220 CTS013 Cutis Verticis Gyrata Mental Deficiency 6
1221 NRV001 Nerve Root Neoplasm 6
1222 c GDP003 Gdap1-Related Hereditary Motor and Sensory Neuropathy 6
1223 INF155 Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome 6
1224 ADL004 Adult Brainstem Astrocytoma 6
1225 THR008 Thoracic Spinal Canal and Spinal Cord Meningioma 6
1226 LMB007 Lumbar Spinal Canal and Spinal Cord Meningioma 6
1227 PLN002 Plantar Nerve Lesion 6
1228 MLG015 Malignant Melanocytic Peripheral Nerve Sheath Tumor of Mediastinum 6
1229 SCR007 Sacral Spinal Canal and Spinal Cord Meningioma 6
1230 c MLT014 Multiple Spinal Canal and Spinal Cord Meningioma 6
1231 CHL053 Childhood Brainstem Astrocytoma 6
1232 CRV019 Cervical Spinal Canal and Spinal Cord Meningioma 6
1233 INT252 Intestinal Neuroendocrine Benign Tumor 6
1234 MDS007 Mediastinum Neurofibroma 5
1235 SCM002 Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 5
1236 PTR009 Pterygium Colli Mental Retardation Digital Anomalies 5
1237 PRG135 Progressive Dementia with Neuroserpin Inclusion Bodies 4
1238 HYP234 Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 4
1239 DFN009 Deafness Hyperuricemia Neurologic Ataxia 4
1240 PRG136 Progressive Myoclonic Epilepsy with Neuroserpin Inclusion Bodies 4
1241 NRV003 Nervous System Hibernoma 4
1242 CRN091 Craniosynostosis Alopecia Brain Defect 4
1243 CRN100 Craniosynostosis Mental Retardation Heart Defects 3
1244 PRT057 Proteus Like Syndrome Mental Retardation Eye Defect 3
1245 CNG099 Congenital Heart Disease Radio Ulnar Synostosis Mental Retardation 3
1246 LKM007 Leukomelanoderma Mental Redardation Hypotrichosis 3
1247 CRN064 Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation 3
1248 DFN012 Deafness Mesenteric Diverticula of Small Bowel Neuropathy 3
1249 SZR004 Seizures Mental Retardation Hair Dysplasia 3
1250 DFN018 Deafness Peripheral Neuropathy Arterial Disease 3
1251 OST060 Osteosclerosis Abnormalities of Nervous System and Meninges 3
1252 EPL007 Epilepsy Mental Deterioration Finnish Type 3
1253 DFN033 Deafness, Neurosensory Nonsyndromic Recessive, Dfn 3
1254 HRD059 Hereditary Peripheral Nervous Disorder 2
1255 FCL024 Focal or Multifocal Malformations in Neuronal Migration 2
1256 RTN074 Retinopathy Aplastic Anemia Neurological Abnormalities 2
1257 CHR279 Chronic Demyelinizing Neuropathy with Igm Monoclonal 2
1258 SPN084 Spinal Bulbar Motor Neuropathy 2
1259 SPS043 Spastic Paraplegia and Distal Muscle Wasting Caused by Neuropathy Target Esterase Gene Mutation 2
1260 P ATX030 Ataxia-Telangiectasia 83
1261 P PRK057 Parkinson Disease, Late-Onset 77
1262 P ATT013 Attention Deficit-Hyperactivity Disorder 67
1263 MVM001 Movement Disease 67
1264 P CRB048 Cerebral Cavernous Malformations 65
1265 PST028 Post-Traumatic Stress Disorder 63
1266 HMR039 Hemorrhage, Intracerebral 62
1267 APH002 Aphasia 60
1268 SLP005 Sleep Disorder 60
1269 RDC002 Radiculopathy 54
1270 CRB027 Cerebellar Disease 53
1271 LPD009 Lipid Storage Disease 53
1272 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 53
1273 P MGL013 Megalencephaly 50
1274 CRB045 Cerebellar Hypoplasia 50
1275 c CRB191 Cerebral Cavernous Malformations 2 49
1276 WRN003 Wernicke Encephalopathy 49
1277 PRP056 Porphyria, Acute Hepatic 47
1278 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 45
1279 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 45
1280 P CRB101 Cerebrooculofacioskeletal Syndrome 1 45
1281 P PNT019 Pontocerebellar Hypoplasia 43
1282 DND001 Dandy-Walker Syndrome 42
1283 c ERL056 Early-Onset Parkinson's Disease 40
1284 MTH074 Methionine Adenosyltransferase I/iii Deficiency 40
1285 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 38
1286 P 2HY001 2-Hydroxyglutaric Aciduria 38
1287 c PRK090 Parkinson Disease 3, Autosomal Dominant 37
1288 P CNT036 Central Nervous System Germ Cell Tumor 36
1289 c CRB094 Cerebral Cavernous Malformations 3 36
1290 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 35
1291 c PRK025 Parkinson Disease 10 35
1292 ASP024 Asparagine Synthetase Deficiency 35
1293 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
1294 ART110 Arteritic Anterior Ischemic Optic Neuropathy 34
1295 c HRD173 Hereditary Late-Onset Parkinson Disease 34
1296 P HYP700 Hypomyelinating Leukodystrophy 31
1297 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 31
1298 c PRK071 Parkinson Disease 14, Autosomal Recessive 30
1299 c HYP716 Hypermanganesemia with Dystonia 1 30
1300 ALC011 Alcoholic Neuropathy 30
1301 NRN002 Neuronitis 29
1302 P SCH077 Schwannomatosis 1 29
1303 BRN034 Brain Meningioma 29
1304 BLB005 Beaulieu-Boycott-Innes Syndrome 28
1305 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 28
1306 c PRK093 Parkinson Disease 8, Autosomal Dominant 28
1307 P HYP723 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 27
1308 FZL002 Fazio-Londe Disease 27
1309 c CRB098 Cerebrooculofacioskeletal Syndrome 2 27
1310 PPL060 Papillary Glioneuronal Tumors 26
1311 c PRK022 Parkinson Disease 12 26
1312 RDL004 Radial Neuropathy 26
1313 c LKD030 Leukodystrophy, Hypomyelinating, 17 24
1314 c PRK081 Parkinson Disease 19a, Juvenile-Onset 24
1315 c LKD021 Leukodystrophy, Hypomyelinating, 11 23
1316 c PRK091 Parkinson Disease 4, Autosomal Dominant 23
1317 c SPN420 Spinocerebellar Ataxia 46 23
1318 c JVN058 Juvenile-Onset Parkinson's Disease 22
1319 c PRK008 Parkinson Disease Type 9 22
1320 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 22
1321 MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 22
1322 c SPN427 Spinocerebellar Ataxia 48 22
1323 P HYP821 Hypermanganesemia with Dystonia 21
1324 ACT181 Acute Motor Axonal Neuropathy 21
1325 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 21
1326 HRL006 Harel-Yoon Syndrome 21
1327 c MNT275 Mental Retardation, Autosomal Recessive 60 20
1328 FGS004 Fg Syndrome 4 20
1329 NRD037 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies 19
1330 OKR001 Okur-Chung Neurodevelopmental Syndrome 19
1331 FXL001 Foix-Alajouanine Syndrome 19
1332 c MNT267 Mental Retardation, X-Linked 104 19
1333 c MNT334 Mental Retardation, Autosomal Dominant 57 19
1334 c SCH088 Schwannomatosis 2 18
1335 c LRR001 Lrrk2-Related Parkinson Disease 18
1336 c MNT289 Mental Retardation, X-Linked 103 18
1337 NRD046 Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities 17
1338 CRV067 Cervical Neuroblastoma 17
1339 NRD044 Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features 17
1340 NRD027 Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset 17
1341 OSL002 O'sullivan-Mcleod Syndrome 17
1342 CLP002 Colpocephaly 17
1343 c PRK058 Parkinson Disease 16 17
1344 c MNT333 Mental Retardation, X-Linked 107 16
1345 c PRK098 Parkinson Disease 5, Autosomal Dominant 16
1346 INT311 Intellectual Developmental Disorder with Neuropsychiatric Features 16
1347 SBN004 Sabinas Brittle Hair Syndrome 16
1348 c MNT274 Mental Retardation, X-Linked 105 15
1349 c ATT020 Attention Deficit-Hyperactivity Disorder 2 15
1350 ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 15
1351 CHL046 Childhood Central Nervous System Mixed Germ Cell Tumor 15
1352 MNT306 Mental Retardation, X-Linked, Syndromic, Houge Type 14
1353 c ENC066 Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 2 14
1354 LSS040 Lissencephaly 9 with Complex Brainstem Malformation 13
1355 c MGL035 Megalencephaly, Autosomal Dominant 13
1356 c BRN141 Brain Small Vessel Disease 3 12
1357 c ATT021 Attention Deficit-Hyperactivity Disorder 3 10
1358 c ATT022 Attention Deficit-Hyperactivity Disorder 4 10
1359 SQL002 Squalene Synthase Deficiency 10
1360 c VPS003 Vps35-Related Parkinson Disease 10
1361 c ATT019 Attention Deficit-Hyperactivity Disorder 1 10
1362 c ADL029 Adult Central Nervous System Mixed Germ Cell Tumor 7
1363 c MCP050 Mucopolysaccharidosis, Type Ii 67
1364 CLF027 Cleft Palate, Isolated 66
1365 P CCK001 Cockayne Syndrome 66
1366 ETN001 Eating Disorder 65
1367 c MCP049 Mucopolysaccharidosis, Type Vii 65
1368 c MCP052 Mucopolysaccharidosis, Type Vi 62
1369 P MTR004 Maturity-Onset Diabetes of the Young 61
1370 P MCP040 Mucopolysaccharidosis-Plus Syndrome 60
1371 c MCP004 Mucopolysaccharidosis Iv 60
1372 P PLY019 Polyneuropathy 58
1373 ASP003 Aseptic Meningitis 56
1374 SMT006 Somatoform Disorder 55
1375 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 53
1376 LRN003 Learning Disability 53
1377 HDN002 Head Injury 52
1378 c BNG030 Benign Ependymoma 52
1379 CVR006 Cavernous Hemangioma 52
1380 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 52
1381 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 51
1382 c CCK008 Cockayne Syndrome a 51
1383 P DYS021 Dysautonomia 49
1384 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
1385 P MYC033 Myoclonus 46
1386 c PNC128 Pain - Chronic 46
1387 PRS063 Paresthesia 45
1388 c MLG064 Malignant Ependymoma 45
1389 c MCP047 Mucopolysaccharidosis, Type Iva 45
1390 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 44
1391 c CRN278 Craniosynostosis 1 44
1392 PLY024 Polymicrogyria 44
1393 SYN058 Synucleinopathy 44
1394 LRG014 Large Cell Neuroendocrine Carcinoma 43
1395 P CRB088 Cerebral Atrophy 42
1396 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 42
1397 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 41
1398 c JBR024 Joubert Syndrome 14 41
1399 DPR002 Depersonalization Disorder 40
1400 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 40
1401 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 40
1402 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 39
1403 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 39
1404 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 39
1405 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 39
1406 MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 38
1407 c PNT018 Pontocerebellar Hypoplasia, Type 1b 38
1408 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 38
1409 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 38
1410 WST004 West Nile Encephalitis 38
1411 P STR001 Striatonigral Degeneration 38
1412 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 37
1413 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 37
1414 c BSL038 Basal Ganglia Calcification, Idiopathic, 1 37
1415 IND012 Indifference to Pain, Congenital, Autosomal Recessive 36
1416 SWL001 Swallowing Disorders 36
1417 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 36
1418 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 36
1419 FTD001 Foot Drop 36
1420 c MCP051 Mucopolysaccharidosis, Type Ix 35
1421 c ATM007 Autoimmune Disease of Central Nervous System 35
1422 INT003 Intracranial Hypotension 35
1423 P HYP111 Hyperprolinemia 35
1424 c PTT029 Pitt-Hopkins-Like Syndrome 1 35
1425 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 35
1426 MST006 Mast Syndrome 34
1427 GLT019 Glut1 Deficiency Syndrome 2 34
1428 CRB196 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 34
1429 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 33
1430 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 32
1431 c MYS075 Myasthenic Syndrome, Congenital, 13 32
1432 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 32
1433 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 32
1434 c SPN284 Spinocerebellar Ataxia 38 32
1435 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 32
1436 P NRN029 Neuronal Intestinal Dysplasia 31
1437 c JBR025 Joubert Syndrome 17 31
1438 c CCK002 Cockayne Syndrome Type I 31
1439 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 31
1440 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 30
1441 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 30
1442 c PNT035 Pontocerebellar Hypoplasia, Type 1c 30
1443 c JBR022 Joubert Syndrome 20 30
1444 c PNT032 Pontocerebellar Hypoplasia, Type 9 30
1445 BYL001 Baylisascariasis 30
1446 c JBR012 Joubert Syndrome 5 29
1447 c MYS067 Myasthenic Syndrome, Congenital, 22 29
1448 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 28
1449 c CRN277 Craniosynostosis 2 28
1450 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 28
1451 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 28
1452 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
1453 c LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 28
1454 P SPN202 Spinocerebellar Ataxia, X-Linked 1 28
1455 c HYP248 Hyperprolinemia, Type I 27
1456 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
1457 GNC005 Geniculate Ganglionitis 27
1458 RCH010 Richieri-Costa/guion-Almeida Syndrome 27
1459 P STR092 Striatal Degeneration, Autosomal Dominant 2 27
1460 c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 27
1461 c JBR014 Joubert Syndrome 9 27
1462 CNT017 Central Nervous System Origin Vertigo 27
1463 MNN002 Mononeuritis Multiplex 27
1464 c CRN281 Craniosynostosis 7 26
1465 CMB002 Combat Disorder 26
1466 c CCK004 Cockayne Syndrome Type Iii 26
1467 c CRN217 Craniosynostosis 3 25
1468 c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 25
1469 MNS002 Mini Stroke 25
1470 c JBR016 Joubert Syndrome 10 25
1471 c PNT047 Pontocerebellar Hypoplasia, Type 2b 25
1472 c PNT048 Pontocerebellar Hypoplasia, Type 2c 25
1473 P MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 25
1474 c MNT287 Mental Retardation, Autosomal Recessive 57 25
1475 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
1476 c JBR013 Joubert Syndrome 8 24
1477 c LKD016 Leukodystrophy, Hypomyelinating, 9 24
1478 c MYS056 Myasthenic Syndrome, Congenital, 17 24
1479 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 24
1480 c PTT030 Pitt-Hopkins-Like Syndrome 2 24
1481 c ATM105 Autoimmune Disease of Peripheral Nervous System 24
1482 c JBR011 Joubert Syndrome 7 24
1483 MCR064 Microcephaly, Seizures, and Developmental Delay 24
1484 CNT042 Central Nervous System Mesenchymal Non-Meningothelial Tumor 24
1485 ART103 Arthrogryposis, Mental Retardation, and Seizures 24
1486 c JBR042 Joubert Syndrome 23 23
1487 RTR023 Retroperitoneal Neuroblastoma 23
1488 c JBR030 Joubert Syndrome 22 23
1489 c JBR018 Joubert Syndrome 4 23
1490 c SPN364 Spinocerebellar Ataxia, X-Linked 3 23
1491 c MYS074 Myasthenic Syndrome, Congenital, 12 23
1492 JWD001 Jawad Syndrome 23
1493 c CHR094 Chronic Polyneuropathy 23
1494 c STR101 Striatal Degeneration, Autosomal Dominant 1 23
1495 c CRN221 Craniosynostosis 4 23
1496 CLF050 Cleft Palate, Cardiac Defects, and Mental Retardation 23
1497 c MNT282 Mental Retardation, Autosomal Recessive 55 22
1498 c JBR037 Joubert Syndrome 26 22
1499 LKN017 Leukoencephalopathy with Ataxia 22
1500 P ENC054 Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations 22
1501 c ATM089 Autoimmune Neuropathy 22
1502 SFR001 Sifrim-Hitz-Weiss Syndrome 22
1503 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 22
1504 c LSS035 Lissencephaly 8 22
1505 c JBR021 Joubert Syndrome 18 22
1506 IMM146 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 22
1507 BRN134 Brain Malformations with or Without Urinary Tract Defects 22
1508 CRB089 Cerebral Beriberi 22
1509 c JBR039 Joubert Syndrome 28 21
1510 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 21
1511 c JBR040 Joubert Syndrome 30 21
1512 c BSL035 Basal Ganglia Calcification, Idiopathic, 5 21
1513 c CRN256 Craniosynostosis 6 21
1514 c PRK102 Parkinsonism-Dystonia, Infantile, 2 21
1515 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 21
1516 c MNT285 Mental Retardation, Autosomal Recessive 58 21
1517 CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 21
1518 c PRV018 Periventricular Nodular Heterotopia 7 21
1519 NRD036 Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures 21
1520 c MCR255 Microcephaly 9, Primary, Autosomal Recessive 20
1521 c BSL039 Basal Ganglia Calcification, Idiopathic, 6 20
1522 c MNT337 Mental Retardation, Autosomal Dominant 58 20
1523 c MLG023 Malignant Adult Ependymoma 20
1524 c MNT336 Mental Retardation, Autosomal Recessive 64 20
1525 CNT067 Central Cord Syndrome 20
1526 c SPN363 Spinocerebellar Ataxia, X-Linked 4 20
1527 MNT118 Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 20
1528 c MNT339 Mental Retardation, Autosomal Recessive 66 20
1529 SPS209 Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy 20
1530 c SPN203 Spinocerebellar Ataxia, X-Linked 5 19
1531 c JBR036 Joubert Syndrome 25 19
1532 c MNT263 Mental Retardation, Autosomal Recessive 51 19
1533 c JBR028 Joubert Syndrome 13 19
1534 NRD054 Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures 19
1535 c JBR044 Joubert Syndrome 31 19
1536 LKN018 Leukoencephalopathy, Progressive, with Ovarian Failure 19
1537 NRD053 Neurodevelopmental Disorder with Spasticity and Poor Growth 19
1538 c JBR038 Joubert Syndrome 27 18
1539 c MNT197 Mental Retardation, X-Linked, Syndromic 9 18
1540 c MNT335 Mental Retardation, Autosomal Recessive 63 18
1541 c MNT277 Mental Retardation, Autosomal Recessive 54 18
1542 c MNT281 Mental Retardation, Autosomal Recessive 59 18
1543 BRN112 Brain Dopamine-Serotonin Vesicular Transport Disease 18
1544 c MNT338 Mental Retardation, Autosomal Recessive 65 18
1545 CRB158 Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 18
1546 c JBR047 Joubert Syndrome 35 18
1547 NRD025 Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations 17
1548 FBR097 Fibrosis, Neurodegeneration, and Cerebral Angiomatosis 17
1549 c MNT284 Mental Retardation, Autosomal Recessive 56 17
1550 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 17
1551 NRD043 Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities 17
1552 c PTT042 Pitt-Hopkins-Like Syndrome 17
1553 NRD052 Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures 17
1554 NRD045 Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills 16
1555 MNT331 Mental Retardation, Autosomal Dominant 55, with Seizures 16
1556 c CRB140 Cerebral Palsy, Spastic Quadriplegic, 2 16
1557 HYD066 Hydrocephalus, Congenital, 3, with Brain Anomalies 16
1558 KRS005 Korsakoff's Amnesic Syndrome 16
1559 SPN409 Spongiform Encephalopathy with Neuropsychiatric Features 16
1560 c SPN403 Spinocerebellar Ataxia, X-Linked 2 15
1561 c PRV021 Periventricular Nodular Heterotopia 8 15
1562 PRN006 Parenchymatous Neurosyphilis 15
1563 NRD055 Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum 14
1564 c DYS194 Dysautonomia-Like Disorder 14
1565 NRD056 Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities 14
1566 NRD035 Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures 14
1567 PST054 Postinfectious Encephalomyelitis 14
1568 c MLT069 Multiple Mitochondrial Dysfunctions Syndrome 2 13
1569 c BSL031 Basal Ganglia Calcification, Idiopathic, 2 13
1570 c CSK002 Cask-Related Intellectual Disability 12
1571 CNT024 Central Nervous System Lipoma 12
1572 c GNT045 Giant Axonal Neuropathy 2 11
1573 NRS002 Neuroaspergillosis 11
1574 CNT030 Central Nervous System Leiomyosarcoma 10
1575 CNT002 Central Nervous System Angiosarcoma 9
1576 CRV015 Cervical Large Cell Neuroendocrine Carcinoma 9
1577 GNR012 Generalized Gangliosidoses 9
1578 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 9
1579 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 9
1580 P CNT040 Central Nervous System Mature Teratoma 9
1581 P CNT039 Central Nervous System Immature Teratoma 9
1582 c PPP001 Ppp2r5d-Related Intellectual Disability 8
1583 BRS024 Breast Large Cell Neuroendocrine Carcinoma 8
1584 c ADL040 Adult Brain Ependymoma 8
1585 NRD062 Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction 8
1586 MCR371 Microcephaly, Growth Deficiency, Seizures, and Brain Malformations 8
1587 c MYC090 Myoclonus, Familial, 2 8
1588 c ATS360 Autosomal Recessive Intellectual Disability 58 7
1589 c ATS410 Autosomal Dominant Intellectual Disability 49 7
1590 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 7
1591 c TRR002 Trio-Related Intellectual Disability 7
1592 c WCR002 Wac-Related Intellectual Disability 7
1593 c SN3001 Sin3a-Related Intellectual Disability Syndrome 7
1594 c ATS403 Autosomal Dominant Intellectual Disability 40 6
1595 c CRN093 Craniosynostosis Autosomal Dominant 6
1596 c ATS348 Autosomal Dominant Intellectual Disability 30 6
1597 BRN116 Brain Stem Medulloblastoma 6
1598 SML035 Small Intestine Carcinoid Neuroendocrine Tumor 5
1599 c PLY008 Polyneuropathy Due to Drug 5
1600 c ATS179 Autosomal Recessive Cerebral Atrophy 5
1601 c DDX001 Ddx3x-Related Intellectual Disability 4
1602 c ARX002 Arx-Related Intellectual Disability 4
1603 c ACS002 Acsl4-Related Intellectual Disability 4
1604 P DYS154 Dystonia 66
1605 MNT002 Mental Depression 65
1606 SPN027 Spinal Stenosis 62
1607 P EPL140 Epilepsy, Idiopathic Generalized 62
1608 P OLG002 Oligodendroglioma 60
1609 INT075 Intracranial Hypertension 58
1610 TCK001 Tick-Borne Encephalitis 56
1611 P DBT005 Diabetes Insipidus 55
1612 GNG002 Ganglioneuroma 54
1613 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
1614 c ADL023 Adult Medulloblastoma 52
1615 MYL001 Myelitis 51
1616 c CNG208 Congenital Disorder of Glycosylation, Type Iic 50
1617 P NLX004 Neu-Laxova Syndrome 1 50
1618 BSL008 Basal Ganglia Disease 49
1619 HRD026 Hereditary Ataxia 49
1620 c ACR116 Aicardi-Goutieres Syndrome 1 48
1621 c MYS051 Myasthenic Syndrome, Congenital, 5 48
1622 NRR001 Neuroretinitis 48
1623 P DNR001 Duane Retraction Syndrome 46
1624 P DMY001 Demyelinating Polyneuropathy 46
1625 ANP006 Anaplastic Ependymoma 46
1626 CRB169 Cerebellar Atrophy, Developmental Delay, and Seizures 46
1627 P HYP263 Hypersomnia 45
1628 SPN050 Spinocerebellar Degeneration 45
1629 ZKF001 Zika Fever 45
1630 c LKD010 Leukodystrophy, Hypomyelinating, 2 44
1631 SPS057 Spasticity 44
1632 HRT030 Hartsfield Syndrome 43
1633 BSL009 Basal Ganglia Calcification 43
1634 GRN006 Granulomatous Angiitis 43
1635 SCT001 Sciatic Neuropathy 43
1636 VNC001 Von Economo's Disease 43
1637 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 42
1638 c AMY090 Amyotrophic Lateral Sclerosis 8 42
1639 c ATM075 Autoimmune Encephalitis 42
1640 c RCR002 Recurrent Hypersomnia 42
1641 ENC005 Encephalomalacia 42
1642 HYP016 Hypochondriasis 41
1643 CVR010 Cavernous Malformation 40
1644 c HNT011 Huntington Disease-Like 3 40
1645 P AXN001 Axonal Neuropathy 40
1646 CLB026 Colobomatous Microphthalmia 40
1647 c ATM100 Autoimmune Optic Neuritis 39
1648 c DNR003 Duane Retraction Syndrome 1 39
1649 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 39
1650 c MCR320 Microcephaly 17, Primary, Autosomal Recessive 39
1651 CRB002 Cerebral Primitive Neuroectodermal Tumor 39
1652 CRB022 Cerebellar Liponeurocytoma 39
1653 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 38
1654 BTR002 Beta-Ureidopropionase Deficiency 38
1655 c MCR238 Microcephaly 7, Primary, Autosomal Recessive 38
1656 ALK024 Alkuraya-Kucinskas Syndrome 38
1657 OLG006 Oligoastrocytoma 38
1658 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 38
1659 MYS054 Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency 38
1660 CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 37
1661 c ADL008 Adult Oligodendroglioma 37
1662 c ATS384 Autosomal Dominant Non-Syndromic Intellectual Disability 2 36
1663 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 36
1664 DYS003 Dysgraphia 35
1665 MXD026 Mixed Glioma 35
1666 DFF012 Differentiating Neuroblastoma 35
1667 P PRS013 Prosopagnosia 35
1668 c AMY085 Amyotrophic Lateral Sclerosis 9 34
1669 c SPN266 Spinocerebellar Ataxia 35 34
1670 P MYS047 Myasthenic Syndrome, Congenital, 1b, Fast-Channel 33
1671 c AMY067 Amyotrophic Lateral Sclerosis 18 33
1672 BRN018 Borna Disease 33
1673 PRS064 Persistent Vegetative State 33
1674 THY108 Thymic Neuroendocrine Tumor 33
1675 DFF029 Diffuse Large B-Cell Lymphoma of the Central Nervous System 33
1676 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 32
1677 c SPN095 Spinocerebellar Ataxia 19 32
1678 c SPN383 Spinocerebellar Ataxia 42 32
1679 PSD001 Pseudobulbar Palsy 32
1680 SPS226 Spastic Paraplegia, Ataxia, and Mental Retardation 32
1681 c HRD198 Hereditary Dystonia 32
1682 c AMY059 Amyotrophic Lateral Sclerosis 19 32
1683 c AMY088 Amyotrophic Lateral Sclerosis 3 31
1684 GNT004 Gnathomiasis 31
1685 c AMY083 Amyotrophic Lateral Sclerosis 11 31
1686 CHL033 Childhood Malignant Schwannoma 31
1687 c ATS385 Autosomal Dominant Non-Syndromic Intellectual Disability 3 31
1688 DDN005 Duodenal Somatostatinoma 30
1689 BRN137 Bronchial Neuroendocrine Tumor 30
1690 MDN002 Median Neuropathy 30
1691 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
1692 NRL001 Neurilemmoma of the Fifth Cranial Nerve 30
1693 P SLW003 Slow-Channel Congenital Myasthenic Syndrome 30
1694 c ACR081 Aicardi-Goutieres Syndrome 6 30
1695 c PNT033 Pontocerebellar Hypoplasia, Type 10 30
1696 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 29
1697 ATY004 Atypical Neurofibroma 29
1698 MGL033 Megalocornea-Mental Retardation Syndrome 29
1699 DRG004 Drug-Induced Mental Disorder 28
1700 c DYS059 Dystonia 16 28
1701 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 28
1702 HYD034 Hydromyelia 28
1703 c DYS146 Dystonia 24 28
1704 ALP085 Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 28
1705 c DYS162 Dystonia, Juvenile-Onset 27
1706 NRG005 Neurogenic Hypertension 27
1707 EXT044 Extraventricular Neurocytoma 27
1708 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 27
1709 c ACR084 Aicardi-Goutieres Syndrome 7 26
1710 HGH001 High Pressure Neurological Syndrome 26
1711 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 26
1712 c SPN372 Spinocerebellar Ataxia 43 26
1713 TXC008 Toxic Optic Neuropathy 26
1714 c JBR026 Joubert Syndrome 15 26
1715 c LKD020 Leukodystrophy, Hypomyelinating, 10 26
1716 c LKD022 Leukodystrophy, Hypomyelinating, 13 26
1717 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 26
1718 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 25
1719 c PNT051 Pontocerebellar Hypoplasia, Type 1d 25
1720 PHC018 Phace Association 25
1721 c PNT050 Pontocerebellar Hypoplasia, Type 11 25
1722 CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 25
1723 c PRK065 Parkinson Disease 20, Early-Onset 25
1724 CHR506 Choroideremia, Deafness, and Mental Retardation 25
1725 c DYS145 Dystonia 23 25
1726 c MYS059 Myasthenic Syndrome, Congenital, 4a, Slow-Channel 25
1727 CLL006 Cellular Neurofibroma 24
1728 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 24
1729 CNG538 Congenital Arthrogryposis with Anterior Horn Cell Disease 24
1730 BSL045 Basel-Vanagaite-Smirin-Yosef Syndrome 24
1731 MLT011 Multiple Mucosal Neuroma 24
1732 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 24
1733 MNT256 Mental Retardation, Buenos Aires Type 24
1734 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 24
1735 SPN187 Spinocerebellar Atrophy 24
1736 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 24
1737 c RTT008 Rett Syndrome, Congenital Variant 23
1738 SPN368 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 23
1739 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 23
1740 c HYP698 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 23
1741 c AMY063 Amyotrophic Lateral Sclerosis 20 23
1742 P SYN064 Syndromic X-Linked Intellectual Disability 23
1743 ACT236 Acute Motor and Sensory Axonal Neuropathy 23
1744 c INF065 Infantile Hypotonia 23
1745 LSS039 Lissencephaly 6 with Microcephaly 23
1746 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 23
1747 ALC013 Alcohol-Induced Mental Disorder 23
1748 c LKD023 Leukodystrophy, Hypomyelinating, 12 23
1749 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 23
1750 OHT001 Ohtahara Syndrome 23
1751 INT110 Intracranial Cysts 23
1752 c ATS383 Autosomal Dominant Non-Syndromic Intellectual Disability 1 23
1753 c HYP714 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 23
1754 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 23
1755 INT312 Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 23
1756 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 23
1757 c CRN216 Craniosynostosis 5 23
1758 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 22
1759 MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 22
1760 c GST091 Gastrointestinal Neuroendocrine Benign Tumor 22
1761 CMB054 Combined Oxidative Phosphorylation Deficiency 23 22
1762 LKD026 Leukodystrophy, Progressive, Early Childhood-Onset 22
1763 c ENC060 Encephalopathy, Acute, Infection-Induced 1 22
1764 P SPN039 Spinal Canal and Spinal Cord Meningioma 22
1765 c JBR035 Joubert Syndrome 24 22
1766 c MNT181 Mental Retardation, Autosomal Recessive 35 22
1767 c NLX003 Neu-Laxova Syndrome 2 22
1768 c DYS172 Dystonia 27 22
1769 c PRS058 Prosopagnosia, Hereditary 22
1770 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 22
1771 c MYS060 Myasthenic Syndrome, Congenital, 4b, Fast-Channel 21
1772 c DYS138 Dystonia 21 21
1773 c JBR027 Joubert Syndrome 16 21
1774 c MYS070 Myasthenic Syndrome, Congenital, 19 21
1775 YNH001 Yuan-Harel-Lupski Syndrome 21
1776 CRB087 Cerebral Arteriosclerosis 21
1777 c SYN078 Syndromic X-Linked Intellectual Disability Type 10 21
1778 c MYS065 Myasthenic Syndrome, Congenital, 18 21
1779 NRP027 Neuropathy, Painful 21
1780 ENC065 Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization 21
1781 MCR354 Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures 21
1782 CMB041 Combined Oxidative Phosphorylation Deficiency 13 21
1783 c LKD029 Leukodystrophy, Hypomyelinating, 16 21
1784 c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 20
1785 c PRP105 Peripheral Nervous System Benign Neoplasm 20
1786 c ATN017 Autonomic Nervous System Benign Neoplasm 20
1787 c EPL093 Epilepsy, Idiopathic Generalized 7 20
1788 BRC121 Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation 20
1789 c EPL084 Epilepsy, Idiopathic Generalized 11 20
1790 NNS032 Non-Syndromic X-Linked Intellectual Disability 20
1791 c AMY062 Amyotrophic Lateral Sclerosis 12 20
1792 PRV020 Periventricular Heterotopia with Microcephaly, Autosomal Recessive 20
1793 YHV001 You-Hoover-Fong Syndrome 20
1794 JBR046 Jaberi-Elahi Syndrome 20
1795 c MNT162 Mental Retardation, Autosomal Recessive 24 20
1796 c EPL086 Epilepsy, Idiopathic Generalized 9 20
1797 MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 20
1798 TBL027 Tubulinopathy-Associated Dysgyria 20
1799 EPL166 Epilepsy, Early-Onset, Vitamin B6-Dependent 20
1800 MDR006 Moderate and Severe Traumatic Brain Injury 19
1801 c MNT172 Mental Retardation, Autosomal Recessive 25 19
1802 c MYS049 Myasthenic Syndrome, Congenital, 3b, Fast-Channel 19
1803 CMB078 Combined Oxidative Phosphorylation Deficiency 32 19
1804 URM001 Uremic Neuropathy 19
1805 c AMY112 Amyotrophic Lateral Sclerosis 25 19
1806 c MNT165 Mental Retardation, Autosomal Recessive 28 19
1807 CHR397 Chromosome Xp11.3 Deletion Syndrome 19
1808 KNN010 Kennerknecht Syndrome 19
1809 c MYS048 Myasthenic Syndrome, Congenital, 3a, Slow-Channel 19
1810 P CRB125 Cerebral Palsy, Spastic Quadriplegic, 1 19
1811 c MNT163 Mental Retardation, Autosomal Recessive 30 19
1812 RSS027 Russell-Silver Syndrome, X-Linked 19
1813 c ENC063 Encephalopathy, Acute, Infection-Induced 7 19
1814 c MNT182 Mental Retardation, Autosomal Recessive 19 19
1815 c AMY110 Amyotrophic Lateral Sclerosis 24 19
1816 ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 19
1817 c ATS358 Autism X-Linked 6 18
1818 PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 18
1819 c AMY108 Amyotrophic Lateral Sclerosis 23 18
1820 c MNT167 Mental Retardation, Autosomal Recessive 16 18
1821 P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 18
1822 c DNR004 Duane Retraction Syndrome 2 18
1823 HYP688 Hypospadias-Mental Retardation Syndrome 18
1824 c MNT180 Mental Retardation, Autosomal Recessive 33 18
1825 c MNT170 Mental Retardation, Autosomal Recessive 23 18
1826 MYS050 Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency 18
1827 c EPL098 Epilepsy, Idiopathic Generalized 12 18
1828 c MNT161 Mental Retardation, Autosomal Recessive 29 18
1829 c SYN082 Syndromic X-Linked Intellectual Disability 14 18
1830 CNT034 Central Nervous System Childhood Germ Cell Tumor 18
1831 c BSL032 Basal Ganglia Calcification, Idiopathic, 4 18
1832 NRN032 Neuroendocrine Tumor of Anal Canal 18
1833 SPN344 Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 18
1834 OPH013 Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency 18
1835 ARL006 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 18
1836 EXT008 Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor 18
1837 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 18
1838 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 18
1839 c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 18
1840 c EPL165 Epilepsy, Idiopathic Generalized 14 17
1841 EXT039 Extrapontine Myelinolysis 17
1842 c HRD156 Hereditary Central Diabetes Insipidus 17
1843 c ATS387 Autosomal Dominant Non-Syndromic Intellectual Disability 5 17
1844 INF036 Inflammatory and Toxic Neuropathy 17
1845 c CHR139 Charcot-Marie-Tooth Disease Type 2c 17
1846 MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 17
1847 c EPL205 Epilepsy, Idiopathic Generalized 13 17
1848 c EPL091 Epilepsy, Idiopathic Generalized 3 17
1849 SDM003 Sodium Channelopathy-Related Small Fiber Neuropathy 17
1850 ART029 Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 17
1851 DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 17
1852 SKL027 Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal 17
1853 CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 17
1854 MYS063 Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency 17
1855 NNP016 Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy 17
1856 ACT235 Acute Macular Neuroretinopathy 17
1857 c CNT032 Central Nervous System Adult Germ Cell Tumor 17
1858 c SYN056 Syndromic X-Linked Intellectual Disability 7 17
1859 MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 17
1860 ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 16
1861 c MNT160 Mental Retardation, Autosomal Recessive 31 16
1862 c ENC037 Encephalopathy, Acute, Infection-Induced 6 16
1863 c MNT247 Mental Retardation, X-Linked 73 16
1864 CHM001 Cahmr Syndrome 16
1865 BRN122 Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome 16
1866 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 16
1867 ADL042 Adult Malignant Schwannoma 16
1868 MNT255 Mental Retardation and Psoriasis 16
1869 CHR580 Choroid Plexus Calcification and Mental Retardation 16
1870 c CHR550 Charcot-Marie-Tooth Disease Type 2n 16
1871 MNT030 Mental Retardation Syndrome, Belgian Type 16
1872 c NRN038 Neuronal Intestinal Dysplasia, Type B 16
1873 ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 16
1874 c ACQ034 Acquired Central Diabetes Insipidus 16
1875 HRD035 Hair Defect with Photosensitivity and Mental Retardation 16
1876 c ATS386 Autosomal Dominant Non-Syndromic Intellectual Disability 4 15
1877 P BSL046 Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive 15
1878 PRD033 Periodic Paralysis with Later-Onset Distal Motor Neuropathy 15
1879 c TRT014 Teratoma of the Central Nervous System 15
1880 SYR007 Syringohydromyelia 15
1881 MYC032 Myoclonic Encephalopathy of Infants 15
1882 EHL082 Ehlers-Danlos Syndrome, Beasley-Cohen Type 15
1883 SPS195 Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 15
1884 c MNT194 Mental Retardation, X-Linked 50 15
1885 ECT104 Ectodermal Dysplasia with Mental Retardation and Syndactyly 15
1886 CRN103 Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 15
1887 MRF017 Marfanoid Mental Retardation Syndrome, Autosomal 15
1888 HYP671 Hypomyelination Neuropathy-Arthrogryposis Syndrome 15
1889 NRN023 Neuroendocrine Cell Hyperplasia of Infancy 15
1890 SPS194 Spastic Paresis, Glaucoma, and Mental Retardation 14
1891 MTR081 Motor Neuron Disease with Dementia and Ophthalmoplegia 14
1892 c EPL208 Epilepsy, Idiopathic Generalized 8 14
1893 SPS193 Spastic Paraplegia, Epilepsy, and Mental Retardation 14
1894 GRW038 Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 14
1895 c ALP075 Alopecia-Mental Retardation Syndrome 2 14
1896 PLT021 Pili Torti and Developmental Delay 14
1897 CTS046 Cutis Verticis Gyrata and Mental Retardation 14
1898 c SPR105 Sporadic Fetal Brain Disruption Sequence 14
1899 c DST092 Distal Hereditary Motor Neuropathy Type 7 14
1900 ACT162 Acute Sensory Ataxic Neuropathy 14
1901 P MXD039 Mixed Germ Cell Tumor of Central Nervous System 14
1902 MNT315 Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 14
1903 ERB002