Neuronal Diseases Category (5056 diseases)


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

# Family MCID Name MIFTS
1 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 45
2 NRF026 Neurofibromatosis, Type Iv, of Riccardi 72
3 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 54
4 c GLY008 Glycogen Storage Disease Ii 64
5 P GLY013 Glycogen Storage Disease 61
6 c GLY060 Glycogen Storage Disease Ia 57
7 c GLY003 Glycogen Storage Disease Iii 56
8 c GLY004 Glycogen Storage Disease V 55
9 c GLY005 Glycogen Storage Disease Vi 51
10 c GLY007 Glycogen Storage Disease Iv 51
11 c GLY011 Glycogen Storage Disease Vii 48
12 c GLY098 Glycogen Storage Disease, Type Ixd 40
13 c GLY016 Glycogen Storage Disease Ib 36
14 c GLY023 Glycogen Storage Disease Type 0 34
15 c GLY044 Glycogen Storage Disease Ixc 30
16 c GLY057 Glycogen Storage Disease X 30
17 c GLY017 Glycogen Storage Disease Ic 28
18 c GLY097 Glycogen Storage Disease Ixb 27
19 c GLY043 Glycogen Storage Disease Xii 27
20 c GLY009 Glycogen Storage Disease Xv 26
21 c GLY059 Glycogen Storage Disease Xiii 22
22 c GLY006 Glycogen Storage Disease Viii 19
23 c GLY093 Glycogen Storage Disease Ixa 17
24 c GLY001 Glycogen Storage Disease Ix 12
25 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 31
26 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 40
27 MNT304 Mental Retardation, X-Linked, with or Without Seizures, Arx-Related 21
28 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 42
29 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 55
30 BRN028 Brain Cancer 72
31 HYP186 Hypertrophic Neuropathy of Dejerine-Sottas 43
32 NRP051 Neuropathy, Hereditary, with Liability to Pressure Palsies 57
33 MTC016 Mitochondrial Neurogastrointestinal Encephalopathy Disease 28
34 ABD002 Abducens Nerve Disease 28
35 MTC036 Mitochondrial Membrane Protein-Associated Neurodegeneration 19
36 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 40
37 CNC002 Cinca Syndrome 62
38 c CRD225 Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant 25
39 RNP003 Renpenning Syndrome 1 53
40 NRM016 Neuromyotonia and Axonal Neuropathy, Autosomal Recessive 31
41 PTT059 Pettigrew Syndrome 40
42 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 30
43 DBT087 Diabetes Insipidus, Neurohypophyseal 62
44 P MNT135 Mental Retardation, X-Linked, Syndromic 13 36
45 NRP060 Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive 50
46 c DST030 Distal Hereditary Motor Neuropathy, Type V 21
47 c HRD195 Hereditary Sensory and Autonomic Neuropathy Type 1e 17
48 c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 59
49 P GNT009 Giant Axonal Neuropathy 50
50 CMB026 Combined Oxidative Phosphorylation Deficiency 12 29
51 MNT303 Mental Retardation, X-Linked, Syndromic, Cabezas Type 29
52 P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 54
53 BRN048 Brain Stem Cancer 31
54 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 23
55 MLG077 Malignant Peripheral Nerve Sheath Tumor 59
56 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 41
57 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 26
58 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 42
59 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 36
60 P NRB001 Neuroblastoma 73
61 ACS001 Acoustic Neuroma 60
62 INT319 Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked 32
63 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 31
64 ART127 Arthrogryposis Multiplex Congenita, Neurogenic Type 28
65 SPN040 Spinal Cancer 37
66 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 51
67 ATH001 Athabaskan Brainstem Dysgenesis Syndrome 31
68 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 44
69 c HRD010 Hereditary Spastic Paraplegia 68
70 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 51
71 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 50
72 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 50
73 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 48
74 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 41
75 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 40
76 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 39
77 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 38
78 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 38
79 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 38
80 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 38
81 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 38
82 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 37
83 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 37
84 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 37
85 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 37
86 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 36
87 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
88 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 35
89 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 35
90 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 34
91 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 34
92 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 34
93 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 34
94 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
95 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 34
96 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 33
97 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 33
98 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 33
99 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 32
100 c NRP059 Neuropathy, Hereditary Motor and Sensory, Type Via 32
101 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 32
102 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 31
103 P SPS012 Spastic Paraplegia 3a 31
104 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 30
105 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 30
106 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 30
107 c SPS031 Spastic Paraplegia 23 29
108 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
109 c SPS036 Spastic Paraplegia 3 28
110 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 28
111 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 28
112 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 27
113 c HRD186 Hereditary Spastic Paraplegia 51 27
114 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 26
115 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 26
116 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 26
117 c SPS021 Spastic Paraplegia 10 26
118 c SPS039 Spastic Paraplegia 5a 25
119 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 25
120 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 25
121 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 25
122 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 24
123 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 24
124 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 24
125 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 24
126 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 24
127 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 24
128 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 23
129 c SPS025 Spastic Paraplegia 15 23
130 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 23
131 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 23
132 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 23
133 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 22
134 c SPS091 Spastic Paraplegia 4 21
135 c SPS041 Spastic Paraplegia 6 21
136 c SPS013 Spastic Paraplegia 8 19
137 c SPS037 Spastic Paraplegia 31 18
138 c SPS034 Spastic Paraplegia 26 18
139 c SPS023 Spastic Paraplegia 13 18
140 c SPS028 Spastic Paraplegia 18 18
141 c SPS027 Spastic Paraplegia 17 17
142 c SPS080 Spastic Paraplegia 51 16
143 c SPS022 Spastic Paraplegia 12 16
144 c SPS161 Spastic Paraplegia 32 15
145 c SPS035 Spastic Paraplegia 29 15
146 c SPS033 Spastic Paraplegia 25 15
147 c SPS032 Spastic Paraplegia 24 15
148 c HRD188 Hereditary Spastic Paraplegia 72 15
149 c SPS029 Spastic Paraplegia 19 15
150 c SPS026 Spastic Paraplegia 16 15
151 c SPS024 Spastic Paraplegia 14 13
152 c SPS040 Spastic Paraplegia 5b 11
153 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 11
154 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 11
155 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 11
156 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 11
157 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 11
158 c ATS186 Autosomal Recessive Spastic Paraplegia Type 68 11
159 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 11
160 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 11
161 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 37
162 c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 33
163 CWC001 Cowchock Syndrome 36
164 NRV006 Nervous System Cancer 61
165 P CRB185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 50
166 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 39
167 INS023 Insensitivity to Pain, Congenital, with Anhidrosis 39
168 P NRF023 Neurofibromatosis, Type Ii 69
169 NRN004 Neuroendocrine Tumor 58
170 P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 47
171 ENC039 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 42
172 ATX010 Ataxia Neuropathy Spectrum 29
173 c PRM039 Primary Angiitis of the Central Nervous System 26
174 SPL051 Split Spinal Cord Malformation 19
175 PRP019 Peripheral Nervous System Disease 53
176 P HRD021 Hereditary Sensory Neuropathy 47
177 PRT052 Partington X-Linked Mental Retardation Syndrome 42
178 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 40
179 c NRN040 Neuronopathy, Distal Hereditary Motor, Type Viib 26
180 CSY002 Coasy Protein-Associated Neurodegeneration 18
181 c SPN335 Spinocerebellar Ataxia Type 1 with Axonal Neuropathy 18
182 MSS001 Masa Syndrome 46
183 P NRD007 Neurodegeneration with Brain Iron Accumulation 46
184 MLN073 Melanosis, Neurocutaneous 38
185 MGR035 Migraine with Brainstem Aura 17
186 c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 39
187 CRN033 Cranial Nerve Malignant Neoplasm 25
188 c AMY091 Amyotrophic Lateral Sclerosis 1 87
189 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 57
190 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 47
191 c AMY090 Amyotrophic Lateral Sclerosis 8 43
192 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 42
193 c AMY069 Amyotrophic Lateral Sclerosis 21 39
194 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 39
195 c AMY067 Amyotrophic Lateral Sclerosis 18 38
196 c AMY088 Amyotrophic Lateral Sclerosis 3 35
197 c AMY085 Amyotrophic Lateral Sclerosis 9 33
198 c AMY059 Amyotrophic Lateral Sclerosis 19 32
199 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 31
200 c AMY083 Amyotrophic Lateral Sclerosis 11 31
201 MHM001 Mehmo Syndrome 30
202 c NRN037 Neuronopathy, Distal Hereditary Motor, Type Va 28
203 P HRD138 Hereditary Motor and Sensory Neuropathy V 27
204 c AMY074 Amyotrophic Lateral Sclerosis Type 14 27
205 c AMY089 Amyotrophic Lateral Sclerosis 7 27
206 c AMY063 Amyotrophic Lateral Sclerosis 20 25
207 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 24
208 c AMY055 Amyotrophic Lateral Sclerosis 17 24
209 c AMY023 Amyotrophic Lateral Sclerosis Type 6 24
210 c AMY062 Amyotrophic Lateral Sclerosis 12 24
211 c AMY022 Amyotrophic Lateral Sclerosis Type 5 23
212 c AMY079 Amyotrophic Lateral Sclerosis Type 15 16
213 RBF002 Riboflavin Transporter Deficiency Neuronopathy 15
214 c AMY108 Amyotrophic Lateral Sclerosis 23 13
215 c AMY109 Amyotrophic Lateral Sclerosis Type 22 11
216 c NRF024 Neurofibromatosis, Type I 63
217 MCL009 Mcleod Syndrome 45
218 NRP049 Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux 19
219 MLT075 Multifocal Motor Neuropathy 45
220 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 42
221 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 38
222 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 21
223 c CHR147 Charcot-Marie-Tooth Disease Type 2k 17
224 c CHR549 Charcot-Marie-Tooth Disease Type 2l 17
225 c CHR143 Charcot-Marie-Tooth Disease Type 2g 16
226 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 14
227 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 14
228 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 12
229 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 10
230 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 10
231 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 9
232 c CHR572 Charcot-Marie-Tooth Disease Type 7 9
233 c CHR647 Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 40
234 NRT001 Neurotic Disorder 39
235 PRM175 Primary Familial Brain Calcification 32
236 P ADT009 Auditory Neuropathy Spectrum Disorder 32
237 P PLZ001 Pelizaeus-Merzbacher Disease 68
238 P GRS003 Griscelli Syndrome 58
239 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 57
240 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 53
241 MSC077 Muscle Eye Brain Disease 51
242 c GRS013 Griscelli Syndrome, Type 1 47
243 c CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 45
244 CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 40
245 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 36
246 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 35
247 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 33
248 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 32
249 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 31
250 c PLZ002 Pelizaeus-Merzbacher-Like Disease 30
251 P MSC002 Muscular Dystrophy-Dystroglycanopathy 28
252 c SPN366 Spinocerebellar Ataxia with Axonal Neuropathy Type 2 27
253 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 26
254 c MNT301 Mental Retardation, X-Linked 21 23
255 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 22
256 SCP005 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 17
257 SPN186 Spinal Cord Injury 67
258 PCK003 Pick Disease of Brain 66
259 TXC002 Toxic Encephalopathy 55
260 c BLM008 Bulimia Nervosa 2 53
261 CRB151 Cerebral Creatine Deficiency Syndrome 1 50
262 CHR105 Choreoacanthocytosis 46
263 SPR008 Supratentorial Primitive Neuroectodermal Tumor 44
264 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 32
265 c ADT007 Auditory Neuropathy, Autosomal Dominant, 1 30
266 LKN010 Leukoencephalopathy with Dystonia and Motor Neuropathy 29
267 P FVL006 Foveal Hypoplasia 1 23
268 c FVL008 Foveal Hypoplasia 2 22
269 c FRT006 Fourth Cranial Nerve Palsy, Familial Congenital 18
270 P CHR071 Charcot-Marie-Tooth Disease 67
271 PRP021 Peripheral Nervous System Neoplasm 53
272 c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 53
273 P MWT001 Mowat-Wilson Syndrome 47
274 c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 28
275 P NRN025 Neuronopathy, Distal Hereditary Motor, Type Viia 26
276 MNT056 Mental Retardation, X-Linked, Syndromic, Nascimento Type 25
277 c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 23
278 c HYP553 Hyperphosphatasia with Mental Retardation Syndrome 3 21
279 CHR639 Chromosome Xp11.22 Duplication Syndrome 15
280 EPD081 Epidermoid Brain Cyst 12
281 c MWT002 Mowat-Wilson Syndrome Due to Monosomy 2q22 9
282 c MWT004 Mowat-Wilson Syndrome Due to a Zeb2 Point Mutation 7
283 P CTS001 Cutis Laxa 62
284 P GCH001 Gaucher's Disease 62
285 P CRB048 Cerebral Cavernous Malformations 57
286 BRJ001 Borjeson-Forssman-Lehmann Syndrome 54
287 ATN002 Autonomic Nervous System Disease 51
288 ERY029 Erythermalgia, Primary 48
289 c GCH017 Gaucher Disease, Type Iii 47
290 P OPT070 Optic Nerve Hypoplasia, Bilateral 42
291 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 37
292 HRD054 Hereditary Neuropathy with Liability to Pressure Palsy 37
293 c CTS045 Cutis Laxa, Autosomal Dominant 1 36
294 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 36
295 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 32
296 c CTS034 Cutis Laxa, Autosomal Recessive Type 1 32
297 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30
298 c ACQ027 Acquired Cutis Laxa 29
299 c GCH013 Gaucher Disease, Type Iiic 29
300 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 28
301 SCP002 Scapuloperoneal Spinal Muscular Atrophy 28
302 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 25
303 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
304 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 25
305 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
306 FCL042 Facial Onset Sensory and Motor Neuronopathy 21
307 c CRB051 Cerebral Cavernous Malformation, Familial 20
308 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 20
309 c CTS031 Cutis Laxa, Autosomal Dominant 2 19
310 c PSD023 Pseudo-Gaucher Disease 10
311 P NRN021 Neuronal Ceroid Lipofuscinosis 62
312 MTR014 Motor Neuron Disease 62
313 PNC119 Pancreatic Neuroendocrine Tumor 49
314 NRF008 Neurofibromatosis-Noonan Syndrome 47
315 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 44
316 LBS001 Lubs X-Linked Mental Retardation Syndrome 41
317 c CRD226 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive 36
318 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 36
319 MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 34
320 WCK001 Wieacker-Wolff Syndrome 33
321 CNG102 Congenital Hypomyelination Neuropathy 28
322 c NRN024 Neuronopathy, Distal Hereditary Motor, Type Vb 22
323 RTN207 Retinopathy, Pigmentary, and Mental Retardation 19
324 ALP025 Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 10
325 P VSC017 Visceral Neuropathy Familial 8
326 P MDL005 Medulloblastoma 76
327 P BLM007 Bulimia Nervosa 1 53
328 c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 41
329 NRV004 Nerve Compression Syndrome 37
330 c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 31
331 CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 30
332 c MNT296 Mental Retardation, X-Linked, Syndromic 34 25
333 NRP009 Neuropathy, Hereditary Motor and Sensory, Okinawa Type 24
334 c MNT187 Mental Retardation, X-Linked 49 24
335 CRP034 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 23
336 c NRN018 Neuronopathy, Distal Hereditary Motor, Type Iic 21
337 c NRN041 Neuronopathy, Distal Hereditary Motor, Type Iib 21
338 c NRN026 Neuronopathy, Distal Hereditary Motor, Type Iid 21
339 c NRN035 Neuronopathy, Distal Hereditary Motor, Type Iia 19
340 ACC001 Accessory Nerve Disease 13
341 HYP028 Hypoglossal Nerve Disease 13
342 NRF007 Neurofibroma 65
343 DBT010 Diabetic Neuropathy 60
344 ANN002 Anencephaly 57
345 P WRD001 Waardenburg's Syndrome 57
346 c WRD030 Waardenburg Syndrome, Type 1 52
347 c WRD033 Waardenburg Syndrome, Type 2e 52
348 LGS001 Legius Syndrome 52
349 SNS003 Sensory Peripheral Neuropathy 48
350 c WRD020 Waardenburg Syndrome, Type 4a 46
351 c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 42
352 c WRD032 Waardenburg Syndrome, Type 2a 37
353 c WRD031 Waardenburg Syndrome, Type 3 34
354 c WRD010 Waardenburg Syndrome Type 4 33
355 c WRD024 Waardenburg Syndrome, Type 4c 32
356 NRP010 Neuropathy, Hereditary Motor and Sensory, Russe Type 30
357 HSD004 Hsd10 Mitochondrial Disease 30
358 c WRD019 Waardenburg Syndrome, Type 4b 29
359 MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 28
360 MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 25
361 c MNT143 Mental Retardation, Autosomal Dominant 13 23
362 c WRD029 Waardenburg Syndrome, Type 2b 23
363 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 23
364 c WRD022 Waardenburg Syndrome, Type 2d 21
365 c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 21
366 c WRD026 Waardenburg Syndrome, Type 2c 18
367 ANG067 Angioma, Hereditary Neurocutaneous 17
368 VGS001 Vagus Nerve Disease 16
369 NRM005 Neuromuscular Disease 60
370 c NMN013 Niemann-Pick Disease, Type a 59
371 CRN031 Cranial Nerve Disease 45
372 CNT019 Central Neurocytoma 42
373 MTR007 Motor Peripheral Neuropathy 39
374 c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 37
375 c GNT049 Giant Axonal Neuropathy 1, Autosomal Recessive 36
376 c NMN014 Niemann-Pick Disease, Type C2 34
377 c DST027 Distal Hereditary Motor Neuropathy, Type Ii 31
378 HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 26
379 PRT015 Partial Third-Nerve Palsy 21
380 SYN062 Syncope, Familial Vasovagal 20
381 SPN350 Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration 20
382 SYN092 Syndromic X-Linked Intellectual Disability Cabezas Type 17
383 SPS197 Spastic Paraplegia with Neuropathy and Poikiloderma 16
384 RDL001 Radial Nerve Lesion 15
385 MCR046 Microcephaly Brain Defect Spasticity Hypernatremia 14
386 WDH003 Woodhouse-Sakati Syndrome 47
387 CNT007 Central Nervous System Tuberculosis 46
388 NRN016 Neuronal Migration Disorders 42
389 c HRD088 Hereditary Neuropathies 40
390 BRN118 Brain Small Vessel Disease with or Without Ocular Anomalies 36
391 AMY086 Amyotrophy, Hereditary Neuralgic 35
392 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 34
393 LJN003 Lujan-Fryns Syndrome 33
394 MNT310 Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 32
395 MTC058 Mitochondrial Dna Depletion Syndrome 6 29
396 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 26
397 c DFN105 Deafness, X-Linked 5 25
398 c DFN147 Deafness, X-Linked 4 22
399 c MNT305 Mental Retardation, X-Linked 12 20
400 c DFN276 Deafness, X-Linked 6 20
401 DFN305 Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy 20
402 c DFN194 Deafness, X-Linked 1 20
403 P XLN004 X-Linked Nonsyndromic Deafness 18
404 c DFN146 Deafness, X-Linked 3 16
405 c DFN186 Deafness, Y-Linked 1 13
406 CRP001 Carpal Tunnel Syndrome 64
407 P CNG411 Congenital Disorder of Glycosylation, Type in 55
408 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
409 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
410 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
411 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
412 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
413 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
414 c CNG379 Congenital Disorder of Glycosylation, Type It 34
415 MLN001 Melanotic Neuroectodermal Tumor 34
416 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
417 c CNG416 Congenital Disorder of Glycosylation, Type Iy 32
418 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
419 P HYP441 Hyperphosphatasia with Mental Retardation Syndrome 1 31
420 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
421 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
422 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
423 c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 30
424 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
425 JHN004 Johnson Neuroectodermal Syndrome 30
426 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
427 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
428 c CNG188 Congenital Disorder of Glycosylation, Type if 29
429 c CNG207 Congenital Disorder of Glycosylation, Type Io 29
430 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
431 c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 28
432 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
433 c CNG389 Congenital Disorder of Glycosylation, Type Iim 28
434 c CNG383 Congenital Disorder of Glycosylation, Type Iik 28
435 TTH004 Tethered Spinal Cord Syndrome 27
436 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27
437 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 27
438 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
439 c CNG201 Congenital Disorder of Glycosylation, Type Iij 27
440 c CNG497 Congenital Disorder of Glycosylation, Type Iio 26
441 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 26
442 c CNG194 Congenital Disorder of Glycosylation, Type Ig 26
443 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 26
444 c CNG378 Congenital Disorder of Glycosylation, Type Ir 26
445 c CNG414 Congenital Disorder of Glycosylation, Type Iil 25
446 c CNG386 Congenital Disorder of Glycosylation, Type Iu 25
447 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
448 c CNG209 Congenital Disorder of Glycosylation, Type Iif 25
449 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
450 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
451 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 24
452 c CNG504 Congenital Disorder of Glycosylation, Type Iip 24
453 c CNG193 Congenital Disorder of Glycosylation, Type Ip 24
454 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
455 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
456 PRM183 Primary Aldosteronism, Seizures, and Neurologic Abnormalities 23
457 c CNG203 Congenital Disorder of Glycosylation, Type Iii 23
458 c MNT200 Mental Retardation, X-Linked 97 19
459 OLF001 Olfactory Nerve Disease 18
460 TRC015 Trochlear Nerve Disease 14
461 ADS006 Aids - Neurological Complications 4
462 P NRV007 Nervous System Disease 75
463 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 67
464 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 49
465 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 49
466 OLF005 Olfactory Neuroblastoma 48
467 c GCH016 Gaucher Disease, Type Ii 45
468 NRN005 Neuronal Ceroid-Lipofuscinoses 45
469 P INF016 Infantile Epileptic Encephalopathy 43
470 P BRN035 Brain Stem Glioma 42
471 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 41
472 c HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 40
473 OPT008 Optic Nerve Neoplasm 38
474 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 36
475 P CNT037 Central Nervous System Germinoma 36
476 AMY005 Amyloid Neuropathy 36
477 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 35
478 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 34
479 c CRD239 Ceroid Lipofuscinosis, Neuronal, 13 33
480 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 32
481 SYN089 Syndromic X-Linked Intellectual Disability Snyder Type 32
482 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 31
483 CRB024 Cerebral Neuroblastoma 31
484 MNT302 Mental Retardation, X-Linked, Syndromic, Christianson Type 30
485 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 30
486 PRM284 Primitive Neuroectodermal Tumor of the Cervix Uteri 28
487 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 27
488 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 26
489 THR010 Third Cranial Nerve Disease 26
490 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 25
491 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 25
492 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 24
493 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 24
494 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 24
495 NRG006 Neurogenic Thoracic Outlet Syndrome 23
496 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 22
497 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 22
498 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 22
499 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 21
500 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 21
501 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 21
502 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 21
503 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 21
504 RCT005 Rectum Neuroendocrine Neoplasm 21
505 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 21
506 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 21
507 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 21
508 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 21
509 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 21
510 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 21
511 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21
512 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 21
513 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 20
514 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 20
515 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 20
516 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 20
517 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 20
518 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 20
519 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 20
520 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 20
521 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 20
522 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 20
523 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 20
524 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 19
525 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 19
526 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 19
527 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 19
528 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 19
529 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 19
530 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 18
531 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 18
532 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 18
533 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 17
534 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 16
535 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 14
536 SPN045 Spinal Cord Primitive Neuroectodermal Neoplasm 10
537 LWG004 Low-Grade Neuroendocrine Tumor of the Corpus Uteri 8
538 LPS008 Lupus - Neurological Sequelae 5
539 PNF001 Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus Syndrome 5
540 P INT030 Intracranial Aneurysm 58
541 CYS005 Cysticercosis 57
542 TRM010 Traumatic Brain Injury 54
543 NRL004 Neuroleptic Malignant Syndrome 44
544 CNV002 Conversion Disorder 42
545 NRF003 Neurofibrosarcoma 42
546 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37
547 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 36
548 c CHR653 Charcot-Marie-Tooth Disease, Demyelinating, Type 1d 36
549 MTC061 Mitochondrial Dna Depletion Syndrome 1 35
550 c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 35
551 c CHR656 Charcot-Marie-Tooth Disease, Demyelinating, Type 1f 34
552 GLL028 Gillespie Syndrome 33
553 c TRC101 Trichothiodystrophy 4, Nonphotosensitive 32
554 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 31
555 3MT022 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia 28
556 VST006 Vestibulocochlear Nerve Disease 27
557 NRS005 Neurosarcoidosis 26
558 WSM002 Waisman Syndrome 25
559 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 24
560 MNT307 Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 24
561 c NRN027 Neuronopathy, Distal Hereditary Motor, Type I 23
562 c TRC103 Trichothiodystrophy 5, Nonphotosensitive 22
563 c NRP039 Neuropathy, Hereditary Sensory, Type Id 21
564 NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 20
565 c TRC117 Trichothiodystrophy 6, Nonphotosensitive 20
566 c MNT196 Mental Retardation, X-Linked 92 19
567 RLN001 Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 17
568 c NRN042 Neuronopathy, Distal Hereditary Motor, Type Ix 14
569 LYM055 Lyme Disease - Neurological Complications 7
570 c INT097 Intracranial Aneurysms Multiple Congenital Anomaly 3
571 P HNT016 Huntington Disease 78
572 c CNT035 Central Nervous System Disease 65
573 ART141 Arteriovenous Malformations of the Brain 50
574 EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 40
575 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 39
576 c HNT004 Huntington Disease-Like 2 37
577 P GST047 Gastrointestinal Neuroendocrine Tumor 36
578 46X053 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 34
579 P MNT319 Mental Retardation, Autosomal Dominant 20 28
580 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 28
581 SPN043 Spinal Cord Glioma 26
582 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 26
583 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 25
584 c NRP043 Neuropathy, Hereditary Motor and Sensory, Type Vib 24
585 c HNT010 Huntington Disease-Like 1 24
586 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 24
587 CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 24
588 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 23
589 PRN033 Paraneoplastic Neurologic Disorders 23
590 NRD024 Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart 22
591 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 22
592 STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 22
593 c GNT040 Giant Axonal Neuropathy 2, Autosomal Dominant 21
594 c JVN015 Juvenile Huntington Disease 21
595 MCR123 Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy 20
596 MCR286 Microcephaly-Intellectual Disability-Phalangeal and Neurological Anomalies Syndrome 20
597 c MNT155 Mental Retardation, Autosomal Recessive 2 20
598 MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 19
599 SPN026 Spinal Cord Lymphoma 19
600 SLW005 Slowed Nerve Conduction Velocity, Autosomal Dominant 18
601 c HNT013 Huntington Disease-Like Syndrome 14
602 CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 12
603 c HNT014 Huntington Disease-Like Syndrome Due to C9orf72 Expansions 9
604 CL4005 Col4a1-Related Brain Small-Vessel Disease 5
605 CRV044 Cervical Hypertrichosis Peripheral Neuropathy 5
606 LYM017 Lyme Disease 68
607 P LTR001 Lateral Sclerosis 58
608 P ACR001 Aicardi-Goutieres Syndrome 57
609 c ACR116 Aicardi-Goutieres Syndrome 1 43
610 P CRN035 Cranial Nerve Palsy 42
611 SPR066 Superficial Siderosis 40
612 c BRT038 Baraitser-Winter Syndrome 1 37
613 BRN005 Brain Glioblastoma Multiforme 36
614 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 34
615 BRN036 Brain Stem Infarction 34
616 P ATS366 Autism X-Linked 2 34
617 P SPN410 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 34
618 c ACR088 Aicardi-Goutieres Syndrome 3 33
619 c ACR092 Aicardi-Goutieres Syndrome 5 33
620 TRS001 Tarsal Tunnel Syndrome 33
621 c ACR091 Aicardi-Goutieres Syndrome 4 31
622 c ACR090 Aicardi-Goutieres Syndrome 2 31
623 NRG003 Neurogenic Arthropathy 30
624 c PRM195 Primary Lateral Sclerosis, Juvenile 30
625 P FRT001 Fourth Cranial Nerve Palsy 30
626 ATS251 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 29
627 c ACR081 Aicardi-Goutieres Syndrome 6 28
628 BRN049 Brain Tumor, Childhood 28
629 c PRM092 Primary Lateral Sclerosis, Adult, 1 27
630 OCL003 Oculomotor Nerve Paralysis 27
631 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 26
632 ABC001 Abcd Syndrome 25
633 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 24
634 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 24
635 CHL057 Childhood Brain Stem Glioma 23
636 c ACR084 Aicardi-Goutieres Syndrome 7 23
637 CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 22
638 c BRT039 Baraitser-Winter Syndrome 2 22
639 ARM006 Armfield X-Linked Mental Retardation Syndrome 21
640 c ATS268 Autism X-Linked 4 21
641 c ATS367 Autism X-Linked 3 20
642 c ATS365 Autism X-Linked 1 20
643 c ATS358 Autism X-Linked 6 19
644 NRF025 Neurofibromatosis, Type Iii, Mixed Central and Peripheral 17
645 NRD028 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 17
646 CTR173 Cataract, Ataxia, Short Stature, and Mental Retardation 16
647 PRN063 Peroneal Nerve, Accessory Deep 16
648 DFF020 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia 15
649 c ATS177 Autism X-Linked 5 13
650 XLN174 X-Linked Non-Syndromic Sensorineural Deafness Type Dfn 12
651 LNG002 Lung Combined Large Cell Neuroendocrine Carcinoma 12
652 NRV002 Nerve Fibre Bundle Defect 11
653 TTL002 Total Third-Nerve Palsy 11
654 DNM002 Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy 10
655 HGH030 High-Grade Neuroendocrine Carcinoma of the Cervix Uteri 10
656 SYN083 Syndromic X-Linked Intellectual Disability Shashi Type 9
657 MLG073 Malignant Melanocytic Neoplasm of the Peripheral Nerve Sheath 9
658 MLG028 Malignant Neoplasm of Acoustic Nerve 9
659 HGH029 High-Grade Neuroendocrine Carcinoma of the Corpus Uteri 8
660 PLN002 Plantar Nerve Lesion 8
661 c OPT030 Optic Nerve Hypoplasia, Familial Bilateral 7
662 CHL022 Childhood Central Nervous System Primitive Neuroectodermal Neoplasm 7
663 c ADL022 Adult Central Nervous System Primitive Neuroectodermal Neoplasm 7
664 SPN022 Spinal Cord Neuroblastoma 6
665 ART040 Arthrogryposis Epileptic Seizures Migrational Brain Disorder 5
666 MBS003 Moebius Axonal Neuropathy Hypogonadism 4
667 TMR014 Tumor of Cranial and Spinal Nerves 3
668 P CFF008 Coffin-Siris Syndrome 1 59
669 BRN071 Brain Injury 54
670 SPN041 Spinal Cord Disease 54
671 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 41
672 FMR003 Femoral Neuropathy 39
673 GLT018 Glut1 Deficiency Syndrome 1 37
674 CRT081 Cortical Dysplasia, Complex, with Other Brain Malformations 7 35
675 ULN001 Ulnar Neuropathy 33
676 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 33
677 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 32
678 c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 30
679 TRT002 Tertiary Neurosyphilis 29
680 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 29
681 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 28
682 c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 28
683 c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 27
684 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 26
685 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 26
686 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 25
687 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24
688 CRT082 Cortical Dysplasia, Complex, with Other Brain Malformations 8 24
689 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 23
690 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 22
691 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 21
692 KHR001 Kahrizi Syndrome 21
693 c CFF006 Coffin-Siris Syndrome 5 21
694 c NRP036 Neuropathy, Hereditary Sensory, Type if 21
695 P CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 20
696 c CRB195 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 19
697 c NRB015 Neuroblastoma 2 18
698 c CFF011 Coffin-Siris Syndrome 6 16
699 LCL011 Localized Hypertrophic Neuropathy 16
700 NRN008 Neuronal Intranuclear Inclusion Disease 44
701 NRS003 Neurosyphilis 44
702 P SPN042 Spinal Cord Ependymoma 40
703 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 39
704 MLG041 Malignant Triton Tumor 36
705 ASY002 Asymptomatic Neurosyphilis 34
706 BRK009 Birk-Barel Mental Retardation Dysmorphism Syndrome 33
707 c NRP055 Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive 33
708 SPN185 Spinal Cord Infarction 33
709 MDR004 Madras Motor Neuron Disease 29
710 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 26
711 c MNT210 Mental Retardation, Autosomal Recessive 42 25
712 NRL023 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 23
713 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 23
714 PRP075 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 23
715 HMR018 Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 22
716 CNG382 Congenital Cataracts, Hearing Loss, and Neurodegeneration 21
717 MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 21
718 MNT058 Mental Retardation, X-Linked, Syndromic, Turner Type 21
719 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 19
720 NRD031 Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 19
721 MNT057 Mental Retardation, X-Linked, Syndromic, Raymond Type 18
722 CLN039 Cln4 Disease 17
723 NRD026 Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies 16
724 PNC065 Pinched Nerve 15
725 NRD030 Neurodegeneration, Childhood-Onset, with Brain Atrophy 14
726 ICH006 Ichthyosis Alopecia Eclabion Ectropion Mental Retardation 6
727 PLT009 Pili Torti Developmental Delay Neurological Abnormalities 6
728 GTD002 Gatad2b-Associated Neurodevelopmental Disorder 5
729 BRN069 Brain and Spinal Tumors 5
730 P ORT004 Orthostatic Intolerance 68
731 P MCR115 Microvascular Complications of Diabetes 5 66
732 c MCR129 Microvascular Complications of Diabetes 1 62
733 P TRC102 Trichothiodystrophy 1, Photosensitive 59
734 P MCR010 Microcephaly 57
735 c EPS042 Episodic Ataxia, Type 1 57
736 c MCR113 Microvascular Complications of Diabetes 3 55
737 c EPS035 Episodic Ataxia, Type 2 54
738 P PTT014 Pitt-Hopkins Syndrome 52
739 ISC002 Ischemic Optic Neuropathy 48
740 c ATS275 Autosomal Recessive Primary Microcephaly 43
741 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 42
742 c MCR130 Microvascular Complications of Diabetes 6 42
743 PLX002 Plexiform Neurofibroma 40
744 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 39
745 DYS006 Dysembryoplastic Neuroepithelial Tumor 37
746 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 36
747 c EPS017 Episodic Ataxia, Type 6 36
748 c MCR120 Microvascular Complications of Diabetes 7 34
749 TBS001 Tabes Dorsalis 33
750 c MLT009 Multiple Cranial Nerve Palsy 33
751 c MCR133 Microvascular Complications of Diabetes 4 32
752 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 30
753 MYC078 Myoclonus and Ataxia 30
754 c MCR329 Microcephaly, Autosomal Dominant 30
755 c MCR112 Microvascular Complications of Diabetes 2 30
756 c EPS037 Episodic Ataxia, Type 4 29
757 MLS013 Miles-Carpenter Syndrome 28
758 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 28
759 c EPS015 Episodic Ataxia, Type 7 27
760 c CHR113 Charcot-Marie-Tooth Neuropathy Type 1 27
761 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 27
762 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 27
763 P BRN030 Brain Ependymoma 27
764 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 27
765 BRN011 Brain Stem Astrocytic Neoplasm 25
766 c PTT029 Pitt-Hopkins-Like Syndrome 1 25
767 BRK011 Brooks-Wisniewski-Brown Syndrome 25
768 HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 25
769 HNM002 Hinman Syndrome 25
770 c MNT295 Mental Retardation, X-Linked, Syndromic 33 25
771 c CFF010 Coffin-Siris Syndrome 3 25
772 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 24
773 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 24
774 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 23
775 c CHR622 Charcot-Marie-Tooth Disease Type 2a2 23
776 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 23
777 TBL007 Tibial Neuropathy 23
778 c MNT270 Mental Retardation, Autosomal Recessive 53 23
779 NRP048 Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration 23
780 c PTT030 Pitt-Hopkins-Like Syndrome 2 23
781 c EPS014 Episodic Ataxia, Type 3 23
782 MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 22
783 c MNT191 Mental Retardation, X-Linked, Syndromic 17 22
784 c MCR320 Microcephaly 17, Primary, Autosomal Recessive 22
785 c MNT262 Mental Retardation, Autosomal Dominant 42 22
786 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 22
787 c CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 22
788 c MCR269 Microcephaly 15, Primary, Autosomal Recessive 22
789 OLF004 Olfactory Nerve Neoplasm 22
790 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 21
791 c TRC100 Trichothiodystrophy 3, Photosensitive 21
792 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 21
793 c EPS033 Episodic Ataxia, Type 8 21
794 OVR005 Ovarian Large-Cell Neuroendocrine Carcinoma 21
795 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 21
796 MTR031 Motor Neuro-Ophthalmic Disorders 20
797 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 20
798 CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 20
799 CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 20
800 MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 20
801 c MCR255 Microcephaly 9, Primary, Autosomal Recessive 20
802 CRT073 Cortical Dysplasia, Complex, with Other Brain Malformations 5 20
803 CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 20
804 CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 20
805 ALP067 Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome 19
806 MNT283 Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly 19
807 c MCR238 Microcephaly 7, Primary, Autosomal Recessive 19
808 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 19
809 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 19
810 SML004 Small Intestine Neuroendocrine Neoplasm 19
811 c EPS034 Episodic Ataxia, Type 5 19
812 MNT320 Mental Retardation, Autosomal Dominant 6, with or Without Seizures 18
813 c CHR344 Chronic Orthostatic Intolerance 18
814 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 18
815 c VSC054 Visceral Neuropathy, Familial, Autosomal Recessive 18
816 NRD004 Neurodegeneration Due to Cerebral Folate Transport Deficiency 18
817 c TRC099 Trichothiodystrophy 2, Photosensitive 18
818 MNT257 Mental Retardation, X-Linked, with Craniofacial Dysmorphism 17
819 FLL034 Fallot Complex with Severe Mental and Growth Retardation 17
820 ABD008 Abidi X-Linked Mental Retardation Syndrome 17
821 MTR078 Motor Neuropathy, Peripheral, with Dysautonomia 17
822 CHL003 Childhood Spinal Cord Tumor 16
823 c ADL054 Adult Brain Stem Glioma 16
824 LRY013 Laryngeal Neuroendocrine Tumor 16
825 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 16
826 CRN293 Craniosynostosis-Mental Retardation-Clefting Syndrome 16
827 KRK002 Karak Syndrome 15
828 PDT043 Pediatric Acute-Onset Neuropsychiatric Syndrome 15
829 c PTT042 Pitt-Hopkins-Like Syndrome 14
830 IDP022 Idiopathic Spinal Cord Herniation 14
831 ATY030 Atypical Pantothenate Kinase-Associated Neurodegeneration 14
832 c MCR356 Microcephaly 19, Primary, Autosomal Recessive 13
833 SPN007 Spinal Cord Oligodendroglioma 12
834 BRN025 Brainstem Intraparenchymal Clear Cell Meningioma 11
835 XLN023 X-Linked Mental Retardation Craniofacial Abnormal Microcephaly Club 11
836 c VSC056 Visceral Neuropathy, Familial, Autosomal Dominant 11
837 SYN081 Syndromic X-Linked Intellectual Disability Abidi Type 11
838 VGS002 Vagus Nerve Neoplasm 11
839 FCL002 Facial Nerve Neoplasm 10
840 ADL035 Adult Spinal Cord Glioblastoma Multiforme 10
841 BNP001 Bone Peripheral Neuroepithelioma 10
842 SYN090 Syndromic X-Linked Intellectual Disability Turner Type 10
843 ANL010 Anal Neuroendocrine Tumor 9
844 CNT029 Central Nervous System Endodermal Sinus Tumor 9
845 ADL021 Adult Brainstem Gliosarcoma 9
846 NRB017 Neuroblastoma Breakpoint Family, Member 17, Pseudogene 9
847 TRG004 Trigeminal Nerve Neoplasm 9
848 TRC009 Trochlear Nerve Neoplasm 9
849 CRN032 Cranial Nerve Iii Tumor 8
850 HYP079 Hypoglossal Nerve Neoplasm 8
851 CNG458 Congenital Abducens Nerve Palsy 8
852 PRM283 Primitive Neuroectodermal Tumor of the Corpus Uteri 7
853 CHL055 Childhood Germ Cell Brain Tumor 7
854 SPN003 Spinal Cord Dermoid Cyst 7
855 ADL003 Adult Brainstem Mixed Glioma 7
856 CLS051 Classic Neuroendocrine Tumor of Appendix 7
857 SPN001 Spinal Accessory Nerve Neoplasm 7
858 GLS002 Glossopharyngeal Nerve Neoplasm 7
859 MLG027 Malignant Oculomotor Nerve Tumor 7
860 ABD001 Abducens Nerve Neoplasm 7
861 ALZ051 Alzheimer Disease Without Neurofibrillary Tangles 7
862 CHL005 Childhood Mediastinal Neurogenic Tumor 6
863 ARN002 Arnold Stickler Bourne Syndrome 5
864 NRL012 Neurological Manifestations of Pompe Disease 5
865 THM007 Thumb Stiff Brachydactyly Mental Retardation 4
866 VSC023 Vasculitis Syndromes of the Central and Peripheral Nervous Systems 4
867 P BNG037 Benign Angiitis of the Central Nervous System 4
868 PST045 Post-Streptococcal Neurologic Disorders 3
869 c SPN294 Spinocerebellar Ataxia 1 58
870 P SPN301 Spinocerebellar Ataxia 2 56
871 RDC002 Radiculopathy 55
872 c SPN291 Spinocerebellar Ataxia 7 52
873 SPN020 Spondylosis 52
874 P GLM040 Glioma Susceptibility 1 51
875 PRR007 Perry Syndrome 51
876 c RBN021 Rubinstein-Taybi Syndrome 1 50
877 c SPN309 Spinocerebellar Ataxia 6 48
878 c SPN293 Spinocerebellar Ataxia 12 47
879 c SPN296 Spinocerebellar Ataxia 17 46
880 c SPN314 Spinocerebellar Ataxia 10 46
881 OPT007 Optic Nerve Glioma 45
882 c SPN100 Spinocerebellar Ataxia 27 44
883 c SPN305 Spinocerebellar Ataxia 11 43
884 c SPN312 Spinocerebellar Ataxia 14 43
885 c SPN265 Spinocerebellar Ataxia 36 41
886 c SPN103 Spinocerebellar Ataxia 31 40
887 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 40
888 c SPN290 Spinocerebellar Ataxia 15 40
889 c SPN106 Spinocerebellar Ataxia 5 40
890 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 39
891 NRM006 Neuromuscular Junction Disease 39
892 c SPN308 Spinocerebellar Ataxia 28 38
893 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 38
894 BRC011 Brachial Plexus Neuropathy 38
895 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 38
896 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 37
897 c SPN304 Spinocerebellar Ataxia 8 36
898 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 36
899 c SPN097 Spinocerebellar Ataxia 23 36
900 MNN028 Mononeuropathy of the Median Nerve, Mild 35
901 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 35
902 c SPN299 Spinocerebellar Ataxia 20 35
903 NRT011 Neurotrophic Keratopathy 33
904 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 33
905 NRF016 Neurofibromatosis, Familial Spinal 33
906 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 32
907 P SPS008 Spastic Ataxia 32
908 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 32
909 c SPN104 Spinocerebellar Ataxia 34 32
910 c SPN101 Spinocerebellar Ataxia 29 31
911 PDN001 Pudendal Neuralgia 31
912 c SPN266 Spinocerebellar Ataxia 35 31
913 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 30
914 c SPN099 Spinocerebellar Ataxia 26 30
915 c SPN095 Spinocerebellar Ataxia 19 30
916 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 30
917 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 29
918 c SPN283 Spinocerebellar Ataxia 37 29
919 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 29
920 P PRS124 Presynaptic Congenital Myasthenic Syndromes 28
921 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 28
922 c SPN284 Spinocerebellar Ataxia 38 27
923 c SPN372 Spinocerebellar Ataxia 43 27
924 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 27
925 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
926 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
927 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 27
928 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 26
929 c SPN247 Spinocerebellar Ataxia Type 19/22 26
930 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 26
931 c SPN098 Spinocerebellar Ataxia 25 26
932 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 26
933 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 26
934 c SPN383 Spinocerebellar Ataxia 42 25
935 SPR032 Superficial Siderosis of the Central Nervous System 25
936 SCH074 Schuurs-Hoeijmakers Syndrome 25
937 c RBN008 Rubinstein-Taybi Syndrome 2 25
938 c SPS072 Spastic Ataxia 1, Autosomal Dominant 25
939 MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 24
940 c SPN286 Spinocerebellar Ataxia 40 24
941 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24
942 c SPS136 Spastic Ataxia 3, Autosomal Recessive 24
943 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 24
944 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 24
945 c SPS212 Spastic Ataxia 5, Autosomal Recessive 23
946 WHT019 White-Sutton Syndrome 23
947 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 22
948 c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 22
949 ANT066 Anterior Cutaneous Nerve Entrapment Syndrome 22
950 c SPS208 Spastic Ataxia 4, Autosomal Recessive 22
951 c SPN323 Spinocerebellar Ataxia 41 22
952 MTC055 Mitochondrial Dna Depletion Syndrome 4b 22
953 c SPN259 Spinocerebellar Ataxia 32 21
954 c SPS142 Spastic Ataxia 2, Autosomal Recessive 21
955 c SPN102 Spinocerebellar Ataxia 30 21
956 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 21
957 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 21
958 c SPS191 Spastic Ataxia 7, Autosomal Dominant 21
959 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 20
960 CHR655 Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive 20
961 c SPN418 Spinocerebellar Ataxia 44 20
962 PRT097 Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome 20
963 c SPN107 Spinocerebellar Ataxia 9 20
964 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 19
965 c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 19
966 c GLM047 Glioma Susceptibility 3 18
967 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 17
968 c SPN336 Spinocerebellar Ataxia Type 16 17
969 c NRB014 Neuroblastoma 3 16
970 PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 16
971 BCK018 Bickerstaff Brainstem Encephalitis 15
972 CMP082 Complex Cortical Dysplasia with Other Brain Malformations 15
973 c GLM043 Glioma Susceptibility 9 15
974 c SPN419 Spinocerebellar Ataxia 45 15
975 c GLM025 Glioma Susceptibility 2 15
976 SPN004 Spinal Cord Lipoma 15
977 c MNT274 Mental Retardation, X-Linked 105 14
978 c SPS214 Spastic Ataxia 4 9
979 c GLM022 Glioma Susceptibility 8 9
980 c GLM021 Glioma Susceptibility 6 9
981 c GLM019 Glioma Susceptibility 4 9
982 c SPS163 Spastic Ataxia 3 8
983 c SPS162 Spastic Ataxia 1 8
984 c GLM038 Glioma Susceptibility 7 8
985 c GLM020 Glioma Susceptibility 5 8
986 c SPS171 Spastic Ataxia 5 8
987 c SPS170 Spastic Ataxia 2 8
988 c SPS172 Spastic Ataxia 7 7
989 MDS014 Mediastinum Neuroblastoma 7
990 P RBN007 Rubinstein Taybi Like Syndrome 6
991 c MLG068 Malignant Glioma 66
992 P NRP001 Neuropathy 63
993 P GLM045 Glioma 61
994 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 60
995 P ENC018 Encephalopathy 58
996 BRN004 Brain Edema 57
997 ATN005 Autonomic Dysfunction 51
998 BRN032 Brain Glioma 48
999 MDL002 Medulloepithelioma 46
1000 ATN004 Autonomic Neuropathy 46
1001 BRN080 Brain Ischemia 45
1002 P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 44
1003 EST003 Eastern Equine Encephalitis 41
1004 P PNT019 Pontocerebellar Hypoplasia 41
1005 c PNT034 Pontocerebellar Hypoplasia, Type 2e 41
1006 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40
1007 c PNT036 Pontocerebellar Hypoplasia, Type 6 40
1008 c PNT018 Pontocerebellar Hypoplasia, Type 1b 38
1009 TRG003 Trigeminal Nerve Disease 37
1010 PLM039 Pulmonary Neuroendocrine Tumor 36
1011 c PNT049 Pontocerebellar Hypoplasia, Type 2d 35
1012 c PNT010 Pontocerebellar Hypoplasia Type 1 35
1013 GLS004 Glossopharyngeal Neuralgia 34
1014 CHR543 Chromosome 2q37 Deletion Syndrome 34
1015 ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 34
1016 c CHR670 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 34
1017 ATN003 Autonomic Nervous System Neoplasm 32
1018 c PNT037 Pontocerebellar Hypoplasia, Type 3 32
1019 VST001 Vestibular Neuronitis 32
1020 c PNT045 Pontocerebellar Hypoplasia, Type 1a 31
1021 c PNT033 Pontocerebellar Hypoplasia, Type 10 31
1022 P SCH017 Schindler Disease 30
1023 c PNT043 Pontocerebellar Hypoplasia, Type 4 29
1024 PLY158 Polyglucosan Body Neuropathy, Adult Form 29
1025 c PNT044 Pontocerebellar Hypoplasia, Type 2a 28
1026 c PNT046 Pontocerebellar Hypoplasia, Type 5 28
1027 c PNT035 Pontocerebellar Hypoplasia, Type 1c 27
1028 c PNT032 Pontocerebellar Hypoplasia, Type 9 27
1029 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 26
1030 c PNT039 Pontocerebellar Hypoplasia, Type 7 25
1031 c RHB011 Rhabdoid Tumor Predisposition Syndrome 2 25
1032 MND023 Mend Syndrome 25
1033 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
1034 c PNT047 Pontocerebellar Hypoplasia, Type 2b 24
1035 BRN134 Brain Malformations with or Without Urinary Tract Defects 24
1036 c CFF009 Coffin-Siris Syndrome 4 24
1037 c CFF007 Coffin-Siris Syndrome 2 24
1038 OHD003 Ohdo Syndrome, X-Linked 23
1039 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 23
1040 ENC047 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 23
1041 ALC002 Alcohol-Related Neurodevelopmental Disorder 22
1042 c PNT050 Pontocerebellar Hypoplasia, Type 11 22
1043 c MNT321 Mental Retardation, Autosomal Recessive 37 22
1044 LSN001 Lesion of Sciatic Nerve 22
1045 c MNT150 Mental Retardation, Autosomal Recessive 15 22
1046 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
1047 ANR038 Anorexia Nervosa 1 21
1048 c MNT207 Mental Retardation, X-Linked, Syndromic 32 21
1049 c PNT048 Pontocerebellar Hypoplasia, Type 2c 21
1050 c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 20
1051 ENC046 Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy 20
1052 XGB001 Xia-Gibbs Syndrome 19
1053 c MNT154 Mental Retardation, Autosomal Recessive 14 19
1054 NRD029 Neurodevelopmental Disorder with Involuntary Movements 18
1055 c MNT264 Mental Retardation, Autosomal Recessive 52 18
1056 c MNT151 Mental Retardation, Autosomal Recessive 18 17
1057 BRN007 Brain Oligodendroglioma 16
1058 EPL170 Epilepsy-Aphasia Spectrum 16
1059 AMM001 Amme Complex 16
1060 MNT107 Mental Retardation, Fra12a Type 15
1061 CLP007 Clpb Deficiency 8
1062 SCR027 Sacral Nerve Root Cysts 7
1063 NRD042 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy 7
1064 NRL011 Neurological Consequences of Cytomegalovirus Infection 3
1065 ANX010 Anxiety 72
1066 OBS002 Obsessive-Compulsive Disorder 68
1067 HMR039 Hemorrhage, Intracerebral 57
1068 P SYP003 Syphilis 55
1069 GLM004 Gliomatosis Cerebri 53
1070 NRM004 Neuroma 51
1071 CNT046 Central Nervous System Vasculitis 47
1072 CRB090 Cerebral Hypoxia 47
1073 DBT002 Diabetic Autonomic Neuropathy 43
1074 CRB033 Cerebral Degeneration 42
1075 CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 42
1076 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 42
1077 OHD004 Ohdo Syndrome 41
1078 c SCN006 Secondary Syphilis 40
1079 c CNG033 Congenital Syphilis 40
1080 NRX001 Neuroaxonal Dystrophy 40
1081 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 39
1082 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 38
1083 PRM205 Primary Hepatic Neuroendocrine Carcinoma 35
1084 FCL011 Facial Nerve Disease 35
1085 SPN018 Spinal Cord Astrocytoma 34
1086 NNT033 Neonatal Hypoxic and Ischemic Brain Injury 33
1087 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 32
1088 c PRM022 Primary Syphilis 32
1089 PRN016 Peroneal Neuropathy 32
1090 CNT041 Central Nervous System Melanocytic Neoplasm 32
1091 P CNT093 Central Nervous System Teratoma 31
1092 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 30
1093 c CNG031 Congenital Nervous System Abnormality 30
1094 EPT008 Epithelioid Malignant Peripheral Nerve Sheath Tumor 29
1095 SMT020 Smith-Kingsmore Syndrome 29
1096 ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 29
1097 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 28
1098 BRN031 Brain Germinoma 28
1099 c SNS009 Sensory Neuropathy Type 1 27
1100 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 27
1101 CKS001 Ck Syndrome 27
1102 ISC001 Ischemic Neuropathy 26
1103 MNN005 Meningovascular Neurosyphilis 26
1104 GST004 Gastric Neuroendocrine Neoplasm 25
1105 c LTC001 Late Congenital Syphilis 25
1106 BRN008 Brain Compression 24
1107 NRS001 Neuroschistosomiasis 24
1108 CNT023 Central Nervous System Hemangioma 24
1109 HLS003 Helsmoortel-Van Der Aa Syndrome 24
1110 P DST101 Distal Hereditary Motor Neuropathies 24
1111 LKN024 Leukoencephalopathy, Brain Calcifications, and Cysts 24
1112 c ERL002 Early Congenital Syphilis 24
1113 ILL008 Ileal Neuroendocrine Tumor 23
1114 P MNT198 Mental Retardation, X-Linked 98 23
1115 P CNT044 Central Nervous System Primitive Neuroectodermal Neoplasm 23
1116 ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 23
1117 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 23
1118 FST001 Foster-Kennedy Syndrome 23
1119 EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 23
1120 PRN008 Peroneal Nerve Paralysis 23
1121 AKL001 Au-Kline Syndrome 22
1122 HLL013 Hall-Riggs Mental Retardation Syndrome 22
1123 BRN021 Brain Sarcoma 22
1124 MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 21
1125 NRN031 Neuroendocrine Tumor of the Appendix 21
1126 RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 21
1127 ESP009 Esophageal Neuroendocrine Tumor 21
1128 GMS002 Gms Syndrome 20
1129 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 20
1130 c CHR115 Charcot-Marie-Tooth Neuropathy Type 2a 20
1131 BLP044 Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 20
1132 ULN002 Ulnar Nerve Lesion 19
1133 INT022 Intracranial Primitive Neuroectodermal Tumor 19
1134 BRS005 Breast Neuroendocrine Neoplasm 18
1135 c INF044 Infantile Axonal Neuropathy 18
1136 PBL004 Piebald Trait with Neurologic Defects 18
1137 RJB001 Rajab Syndrome 18
1138 c MNT204 Mental Retardation, X-Linked 23 17
1139 WLF012 Wolff Mental Retardation Syndrome 17
1140 PTR031 Pterygium Colli and Mental Retardation with Facial and Digital Anomalies 17
1141 PRS131 Prostate Cancer/brain Cancer Susceptibility 17
1142 MCR333 Microcephaly, Seizures, Spasticity, and Brain Calcifications 16
1143 ULN022 Ulnar Hypoplasia with Mental Retardation 16
1144 LMB066 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 16
1145 c MNT202 Mental Retardation, X-Linked 53 16
1146 JJN009 Jejunal Neuroendocrine Tumor 16
1147 NRC007 Neuroectodermal Endocrine Syndrome 15
1148 SPN347 Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 15
1149 P NNP004 Nonphotosensitive Trichothiodystrophy 15
1150 HYP687 Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy 15
1151 NRN034 Neuroendocrine Tumor of the Anal Canal 15
1152 SPS218 Spastic Diplegia and Mental Retardation 15
1153 NRP047 Neuropathy, Hereditary Thermosensitive 15
1154 SCH022 Schimke X-Linked Mental Retardation Syndrome 15
1155 VSC048 Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome 15
1156 GLS008 Glossopharyngeal Nerve Disease 15
1157 HYP183 Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features 15
1158 c ATS261 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 15
1159 CNG457 Congenital Oculomotor Nerve Palsy 15
1160 P MNT312 Mental Health Wellness 1 15
1161 SPN025 Spinal Cord Melanoma 14
1162 BRN027 Brain Angioma 14
1163 OCL024 Ocular Neuromyotonia 14
1164 SPR039 Supratentorial Primitive Neuroectodermal Tumors, Childhood 14
1165 NRP006 Neuropathy, Congenital, with Arthrogryposis Multiplex 13
1166 EFV001 Efavirenz, Poor Metabolism of 13
1167 PLY113 Polyneuropathy Associated with Igm Monoclonal Gammapathy with Anti-Mag 12
1168 ATN001 Autonomic Peripheral Neuropathy 12
1169 P FTL014 Fetal Brain Disruption Sequence 11
1170 MNT311 Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration 11
1171 CLN014 Colon Neuroendocrine Neoplasm 11
1172 PRS017 Prostate Neuroendocrine Neoplasm 11
1173 OST048 Osteopetrosis and Infantile Neuroaxonal Dystrophy 11
1174 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 11
1175 c NRB012 Neuroblastoma 5 11
1176 c GLY103 Glycosylphosphatidylinositol Biosynthesis Defect 15 10
1177 PRP096 Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 10
1178 c CHR120 Charcot-Marie-Tooth Neuropathy X Type 1 10
1179 SPN024 Spinal Cord Sarcoma 10
1180 c NRB016 Neuroblastoma 7 10
1181 c NRB013 Neuroblastoma 6 10
1182 c NRB011 Neuroblastoma 4 10
1183 KCN019 Kcnk9 Imprinting Syndrome 10
1184 SPN002 Spinal Cord Intramedullary Teratoma 10
1185 IDP004 Idiopathic Peripheral Autonomic Neuropathy 9
1186 SYN093 Syndromic X-Linked Intellectual Disability Raymond Type 9
1187 RNL088 Renal Cell Carcinoma Associated with Neuroblastoma 9
1188 DNM001 Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy 9
1189 P GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 9
1190 YLK002 Yolk Sac Tumor of Central Nervous System 9
1191 SNL005 Senile Degeneration of Brain 8
1192 ATM073 Autoimmune-Related Retinopathy and Optic Neuropathy 8
1193 CNG362 Congenital Trochlear Nerve Palsy 8
1194 c SVR017 Severe Infantile Axonal Neuropathy 8
1195 MLG125 Malignant Mediastinal Neurogenic Neoplasm 8
1196 CRB010 Cerebellopontine Angle Primitive Neuroectodermal 8
1197 OVR004 Ovary Neuroendocrine Neoplasm 8
1198 NRF005 Neurofibroma of Gallbladder 8
1199 NRF001 Neurofibroma of Spinal Cord 8
1200 CHL017 Childhood Brain Meningioma 8
1201 SCH001 Schwannoma of Twelfth Cranial Nerve 8
1202 NRF006 Neurofibroma of the Heart 7
1203 CLL024 Colloid Cysts of Third Ventricle 7
1204 c ADL036 Adult Central Nervous System Germinoma 7
1205 MLG057 Malignant Cardiac Peripheral Nerve Sheath Neoplasm 7
1206 c MNT313 Mental Health Wellness 2 7
1207 CTS013 Cutis Verticis Gyrata Mental Deficiency 7
1208 c ADL055 Adult Central Nervous System Teratoma 7
1209 SFT001 Soft Tissue Peripheral Neuroepithelioma 7
1210 BRN020 Brain Stem Angioblastoma 7
1211 BRN023 Brain Stem Ependymoma 7
1212 INF155 Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome 6
1213 THR008 Thoracic Spinal Canal and Spinal Cord Meningioma 6
1214 SCR007 Sacral Spinal Canal and Spinal Cord Meningioma 6
1215 LMB007 Lumbar Spinal Canal and Spinal Cord Meningioma 6
1216 CRV019 Cervical Spinal Canal and Spinal Cord Meningioma 6
1217 c MLT014 Multiple Spinal Canal and Spinal Cord Meningioma 6
1218 CHL053 Childhood Brainstem Astrocytoma 6
1219 CHL051 Childhood Brain Germinoma 6
1220 ADL004 Adult Brainstem Astrocytoma 6
1221 CNT013 Central Nervous System Leiomyoma 6
1222 NRV001 Nerve Root Neoplasm 6
1223 HRD181 Hereditary Neuroendocrine Tumor of Small Intestine 6
1224 NSL005 Nasal Cavity Olfactory Neuroblastoma 6
1225 PMP012 Pmp2-Related Charcot-Marie-Tooth Disease Type 1 6
1226 HYP234 Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 6
1227 MLG015 Malignant Melanocytic Peripheral Nerve Sheath Tumor of Mediastinum 6
1228 BLT005 Bilateral Meningioma of Optic Nerve 6
1229 INT252 Intestinal Neuroendocrine Benign Tumor 5
1230 PTR009 Pterygium Colli Mental Retardation Digital Anomalies 5
1231 SCM002 Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 5
1232 MDS007 Mediastinum Neurofibroma 5
1233 DFN009 Deafness Hyperuricemia Neurologic Ataxia 4
1234 HRD105 Hereditary Sensorimotor Neuropathy with Hyperelastic Skin 4
1235 CRN091 Craniosynostosis Alopecia Brain Defect 4
1236 CRN100 Craniosynostosis Mental Retardation Heart Defects 3
1237 CNG099 Congenital Heart Disease Radio Ulnar Synostosis Mental Retardation 3
1238 PRT057 Proteus Like Syndrome Mental Retardation Eye Defect 3
1239 NRV003 Nervous System Hibernoma 3
1240 BLR014 Bilirubin Induced Brain Injury in the Newborn 3
1241 LKM007 Leukomelanoderma Mental Redardation Hypotrichosis 3
1242 GDP003 Gdap1-Related Hereditary Motor and Sensory Neuropathy 3
1243 DFN033 Deafness, Neurosensory Nonsyndromic Recessive, Dfn 3
1244 DFN018 Deafness Peripheral Neuropathy Arterial Disease 3
1245 DFN012 Deafness Mesenteric Diverticula of Small Bowel Neuropathy 3
1246 SZR004 Seizures Mental Retardation Hair Dysplasia 3
1247 EPL007 Epilepsy Mental Deterioration Finnish Type 3
1248 CRN064 Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation 3
1249 OST060 Osteosclerosis Abnormalities of Nervous System and Meninges 3
1250 SPS043 Spastic Paraplegia and Distal Muscle Wasting Caused by Neuropathy Target Esterase Gene Mutation 2
1251 SPN084 Spinal Bulbar Motor Neuropathy 2
1252 MTR033 Motor Sensory Neuropathy Type 1 Aplasia Cutis Congenita 2
1253 FCL024 Focal or Multifocal Malformations in Neuronal Migration 2
1254 RTN074 Retinopathy Aplastic Anemia Neurological Abnormalities 2
1255 CHR279 Chronic Demyelinizing Neuropathy with Igm Monoclonal 2
1256 HRD059 Hereditary Peripheral Nervous Disorder 2
1257 P ATX030 Ataxia-Telangiectasia 80
1258 P AST007 Astrocytoma 66
1259 PST028 Post-Traumatic Stress Disorder 59
1260 ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53
1261 c CRB191 Cerebral Cavernous Malformations 2 49
1262 NRN002 Neuronitis 43
1263 MTH074 Methionine Adenosyltransferase I/iii Deficiency 43
1264 P BND018 Band Heterotopia 42
1265 c NMN016 Niemann-Pick Disease, Type B 42
1266 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 41
1267 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 40
1268 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 39
1269 c CRB094 Cerebral Cavernous Malformations 3 38
1270 ALC011 Alcoholic Neuropathy 31
1271 c HYP716 Hypermanganesemia with Dystonia 1 28
1272 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 26
1273 BLB005 Beaulieu-Boycott-Innes Syndrome 25
1274 HRT037 Heart and Brain Malformation Syndrome 25
1275 HYP723 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 25
1276 c MNT158 Mental Retardation, Autosomal Dominant 22 25
1277 c MNT157 Mental Retardation, Autosomal Dominant 18 24
1278 PPL060 Papillary Glioneuronal Tumors 23
1279 c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 22
1280 c MNT248 Mental Retardation, X-Linked 102 22
1281 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 22
1282 c MNT273 Mental Retardation, Autosomal Dominant 44 21
1283 c HYP713 Hypermanganesemia with Dystonia 2 21
1284 ACT181 Acute Motor Axonal Neuropathy 21
1285 c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 21
1286 c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 21
1287 MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 21
1288 c MNT183 Mental Retardation, Autosomal Recessive 36 20
1289 FGS004 Fg Syndrome 4 20
1290 NRD023 Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language 20
1291 c MNT275 Mental Retardation, Autosomal Recessive 60 19
1292 SPN267 Spinal Muscular Atrophy, Jokela Type 19
1293 c JVN001 Juvenile Astrocytoma 19
1294 OKR001 Okur-Chung Neurodevelopmental Syndrome 19
1295 c MNT325 Mental Retardation, Autosomal Recessive 61 18
1296 P HYP821 Hypermanganesemia with Dystonia 18
1297 c MNT271 Mental Retardation, X-Linked 61 18
1298 ENC050 Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 18
1299 NRD027 Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset 18
1300 CRV067 Cervical Neuroblastoma 17
1301 c MNT289 Mental Retardation, X-Linked 103 17
1302 c MNT218 Mental Retardation, X-Linked 99 17
1303 c MNT224 Mental Retardation, X-Linked 101 17
1304 HYP646 Hypomagnesemia, Seizures, and Mental Retardation 17
1305 c HYP593 Hyperphosphatasia with Mental Retardation Syndrome 5 17
1306 c MNT223 Mental Retardation, X-Linked 100 16
1307 ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 16
1308 c MNT267 Mental Retardation, X-Linked 104 16
1309 SBN004 Sabinas Brittle Hair Syndrome 15
1310 c MNT294 Mental Retardation, X-Linked 106 15
1311 ENC059 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity 14
1312 INT311 Intellectual Developmental Disorder with Neuropsychiatric Features 13
1313 MYP122 Myopathy, Congenital, with Neuropathy and Deafness 13
1314 NRD040 Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter 8
1315 c FML049 Familial Band Heterotopia 3
1316 P MTR004 Maturity-Onset Diabetes of the Young 62
1317 CLF027 Cleft Palate, Isolated 61
1318 SMT006 Somatoform Disorder 55
1319 P EPN002 Ependymoma 53
1320 c MLG064 Malignant Ependymoma 47
1321 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 45
1322 STL001 St. Louis Encephalitis 43
1323 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 41
1324 DPR002 Depersonalization Disorder 38
1325 c CNG191 Congenital Disorder of Glycosylation, Type Iia 35
1326 c BNG030 Benign Ependymoma 34
1327 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 28
1328 c STR092 Striatal Degeneration, Autosomal Dominant 2 27
1329 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 26
1330 ART103 Arthrogryposis, Mental Retardation, and Seizures 26
1331 c MNT185 Mental Retardation, Autosomal Dominant 7 26
1332 RCH010 Richieri-Costa/guion-Almeida Syndrome 26
1333 c MNT212 Mental Retardation, Autosomal Dominant 26 26
1334 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 26
1335 JWD001 Jawad Syndrome 25
1336 RTR023 Retroperitoneal Neuroblastoma 25
1337 c MNT145 Mental Retardation, Autosomal Recessive 5 24
1338 CRB196 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 24
1339 c MNT280 Mental Retardation, Autosomal Dominant 43 24
1340 c ATM089 Autoimmune Neuropathy 23
1341 c MNT246 Mental Retardation, Autosomal Dominant 38 23
1342 c MNT241 Mental Retardation, Autosomal Dominant 32 23
1343 c MNT298 Mental Retardation, X-Linked, Syndromic, 35 23
1344 P STR101 Striatal Degeneration, Autosomal Dominant 1 23
1345 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 23
1346 ZTT001 Zttk Syndrome 23
1347 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 23
1348 c MNT214 Mental Retardation, Autosomal Dominant 24 22
1349 CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 22
1350 c MNT176 Mental Retardation, Autosomal Recessive 38 22
1351 c MNT322 Mental Retardation, Autosomal Dominant 27 22
1352 c MNT226 Mental Retardation, Autosomal Dominant 31 22
1353 c MNT213 Mental Retardation, Autosomal Recessive 40 22
1354 c MNT242 Mental Retardation, Autosomal Dominant 40 22
1355 SFR001 Sifrim-Hitz-Weiss Syndrome 22
1356 c MNT166 Mental Retardation, Autosomal Recessive 39 21
1357 c MNT222 Mental Retardation, Autosomal Dominant 29 21
1358 IMM146 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 21
1359 c MNT221 Mental Retardation, Autosomal Recessive 44 21
1360 c MNT234 Mental Retardation, Autosomal Recessive 48 21
1361 c MNT216 Mental Retardation, Autosomal Recessive 41 21
1362 c MNT285 Mental Retardation, Autosomal Recessive 58 21
1363 CMB002 Combat Disorder 21
1364 c MNT211 Mental Retardation, Autosomal Dominant 23 21
1365 c MNT159 Mental Retardation, Autosomal Dominant 19 20
1366 c MNT238 Mental Retardation, Autosomal Dominant 34 20
1367 c MNT197 Mental Retardation, X-Linked, Syndromic 9 20
1368 c MNT219 Mental Retardation, Autosomal Dominant 30 20
1369 c MLG023 Malignant Adult Ependymoma 20
1370 c MNT287 Mental Retardation, Autosomal Recessive 57 20
1371 c MNT227 Mental Retardation, Autosomal Recessive 46 20
1372 c MNT244 Mental Retardation, Autosomal Recessive 49 20
1373 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 20
1374 c MNT177 Mental Retardation, Autosomal Recessive 27 20
1375 c MNT282 Mental Retardation, Autosomal Recessive 55 20
1376 c MNT239 Mental Retardation, Autosomal Dominant 35 20
1377 CLF050 Cleft Palate, Cardiac Defects, and Mental Retardation 20
1378 c MNT179 Mental Retardation, Autosomal Dominant 21 20
1379 c MNT236 Mental Retardation, Autosomal Dominant 39 19
1380 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 19
1381 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 19
1382 GNC005 Geniculate Ganglionitis 19
1383 c MNT245 Mental Retardation, Autosomal Dominant 36 19
1384 c MNT220 Mental Retardation, Autosomal Recessive 45 19
1385 CRB158 Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 19
1386 c MNT240 Mental Retardation, Autosomal Dominant 33 19
1387 P NRN029 Neuronal Intestinal Dysplasia 19
1388 c MNT225 Mental Retardation, Autosomal Recessive 47 19
1389 c MNT215 Mental Retardation, Autosomal Recessive 43 19
1390 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 18
1391 c ATM007 Autoimmune Disease of Central Nervous System 18
1392 c MNT263 Mental Retardation, Autosomal Recessive 51 18
1393 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 18
1394 c MNT277 Mental Retardation, Autosomal Recessive 54 18
1395 c MNT272 Mental Retardation, Autosomal Dominant 41 18
1396 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 17
1397 c MNT281 Mental Retardation, Autosomal Recessive 59 17
1398 c MNT279 Mental Retardation, Autosomal Dominant 47 17
1399 c MNT286 Mental Retardation, Autosomal Dominant 45 17
1400 MNT118 Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 17
1401 c MNT243 Mental Retardation, Autosomal Recessive 50 17
1402 c MNT284 Mental Retardation, Autosomal Recessive 56 17
1403 P ALP076 Alopecia-Mental Retardation Syndrome 1 16
1404 SPN409 Spongiform Encephalopathy with Neuropsychiatric Features 16
1405 c MNT278 Mental Retardation, Autosomal Dominant 46 16
1406 c MNT186 Mental Retardation, Autosomal Dominant 10 16
1407 c MNT184 Mental Retardation, Autosomal Dominant 11 16
1408 PRN006 Parenchymatous Neurosyphilis 15
1409 c MNT195 Mental Retardation, X-Linked 96 15
1410 NRD025 Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations 14
1411 NRD036 Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures 13
1412 NRD037 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies 12
1413 NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 12
1414 c GNT045 Giant Axonal Neuropathy 2 11
1415 NRD035 Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures 11
1416 NRS002 Neuroaspergillosis 11
1417 MNT306 Mental Retardation, X-Linked, Syndromic, Houge Type 10
1418 CNT002 Central Nervous System Angiosarcoma 10
1419 NRD039 Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language 7
1420 SYN073 Syngap1-Related Intellectual Disability 7
1421 BRN116 Brain Stem Medulloblastoma 6
1422 SML035 Small Intestine Carcinoid Neuroendocrine Tumor 5
1423 NRD044 Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features 5
1424 PPP001 Ppp2r5d-Related Intellectual Disability 5
1425 P OLG002 Oligodendroglioma 59
1426 P DBT005 Diabetes Insipidus 54
1427 c ADL023 Adult Medulloblastoma 53
1428 c CHR283 Chronic Inflammatory Demyelinating Polyneuropathy 51
1429 P DMY001 Demyelinating Polyneuropathy 46
1430 NRR001 Neuroretinitis 46
1431 HYP016 Hypochondriasis 42
1432 SCT001 Sciatic Neuropathy 41
1433 CRB002 Cerebral Primitive Neuroectodermal Tumor 40
1434 P CNT036 Central Nervous System Germ Cell Tumor 39
1435 P GST100 Gastric Neuroendocrine Tumor 38
1436 P AXN001 Axonal Neuropathy 38
1437 P LRG014 Large Cell Neuroendocrine Carcinoma 37
1438 THY108 Thymic Neuroendocrine Tumor 37
1439 c ADL008 Adult Oligodendroglioma 36
1440 CRB022 Cerebellar Liponeurocytoma 36
1441 c HNT011 Huntington Disease-Like 3 35
1442 MXD026 Mixed Glioma 35
1443 NRD001 Neurodermatitis 34
1444 DFF012 Differentiating Neuroblastoma 34
1445 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 33
1446 MDN002 Median Neuropathy 32
1447 DFF029 Diffuse Large B-Cell Lymphoma of the Central Nervous System 31
1448 ART110 Arteritic Anterior Ischemic Optic Neuropathy 31
1449 CLB026 Colobomatous Microphthalmia 31
1450 DDN005 Duodenal Somatostatinoma 30
1451 CNT017 Central Nervous System Origin Vertigo 30
1452 NRG001 Neurogenic Bowel 29
1453 NRG005 Neurogenic Hypertension 29
1454 HGH001 High Pressure Neurological Syndrome 29
1455 ATY004 Atypical Neurofibroma 28
1456 MGL033 Megalocornea-Mental Retardation Syndrome 28
1457 GRN006 Granulomatous Angiitis 27
1458 DRG004 Drug-Induced Mental Disorder 26
1459 TXC008 Toxic Optic Neuropathy 25
1460 P SYN064 Syndromic X-Linked Intellectual Disability 25
1461 c SYN078 Syndromic X-Linked Intellectual Disability Type 10 25
1462 CRB169 Cerebellar Atrophy, Developmental Delay, and Seizures 24
1463 P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 24
1464 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 24
1465 c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 24
1466 ALC013 Alcohol-Induced Mental Disorder 23
1467 RDL004 Radial Neuropathy 23
1468 CNT042 Central Nervous System Mesenchymal Non-Meningothelial Tumor 23
1469 EXT044 Extraventricular Neurocytoma 23
1470 MDR006 Moderate and Severe Traumatic Brain Injury 23
1471 CLL006 Cellular Neurofibroma 23
1472 CNT043 Central Nervous System Organ Benign Neoplasm 23
1473 NRP027 Neuropathy, Painful 22
1474 BRN034 Brain Meningioma 22
1475 c MNT181 Mental Retardation, Autosomal Recessive 35 22
1476 WDS002 Woods Syndrome 21
1477 ALP085 Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 21
1478 MNT256 Mental Retardation, Buenos Aires Type 21
1479 c GST091 Gastrointestinal Neuroendocrine Benign Tumor 21
1480 YHV001 You-Hoover-Fong Syndrome 21
1481 c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 21
1482 SYN079 Syndromic X-Linked Intellectual Disability Siderius Type 21
1483 SPN368 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 21
1484 SPS226 Spastic Paraplegia, Ataxia, and Mental Retardation 20
1485 MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 20
1486 P SPN039 Spinal Canal and Spinal Cord Meningioma 20
1487 CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 20
1488 NNS032 Non-Syndromic X-Linked Intellectual Disability 20
1489 c SYN056 Syndromic X-Linked Intellectual Disability 7 20
1490 CHL106 Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter 20
1491 MLT011 Multiple Mucosal Neuroma 20
1492 URM001 Uremic Neuropathy 20
1493 KNN010 Kennerknecht Syndrome 19
1494 ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 19
1495 TBL027 Tubulinopathy-Associated Dysgyria 19
1496 c MNT162 Mental Retardation, Autosomal Recessive 24 19
1497 PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 19
1498 c MNT163 Mental Retardation, Autosomal Recessive 30 19
1499 CHR397 Chromosome Xp11.3 Deletion Syndrome 19
1500 FXL001 Foix-Alajouanine Syndrome 18
1501 c MNT172 Mental Retardation, Autosomal Recessive 25 18
1502 HYP688 Hypospadias-Mental Retardation Syndrome 18
1503 c HRD156 Hereditary Central Diabetes Insipidus 18
1504 c MNT167 Mental Retardation, Autosomal Recessive 16 18
1505 MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 18
1506 c MNT165 Mental Retardation, Autosomal Recessive 28 18
1507 c MCR272 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 18
1508 P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 18
1509 ARL006 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 18
1510 c MNT180 Mental Retardation, Autosomal Recessive 33 18
1511 SPN344 Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 18
1512 BRC121 Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation 18
1513 BRN112 Brain Dopamine-Serotonin Vesicular Transport Disease 18
1514 INF036 Inflammatory and Toxic Neuropathy 18
1515 CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 18
1516 c MNT182 Mental Retardation, Autosomal Recessive 19 18
1517 NRN023 Neuroendocrine Cell Hyperplasia of Infancy 18
1518 SDM003 Sodium Channelopathy-Related Small Fiber Neuropathy 17
1519 c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 17
1520 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 17
1521 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 17
1522 RSS027 Russell-Silver Syndrome, X-Linked 17
1523 DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 17
1524 c MNT170 Mental Retardation, Autosomal Recessive 23 17
1525 SKL027 Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal 17
1526 MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 17
1527 NNP016 Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy 17
1528 c CHR139 Charcot-Marie-Tooth Disease Type 2c 17
1529 CHM001 Cahmr Syndrome 17
1530 c MNT161 Mental Retardation, Autosomal Recessive 29 17
1531 c NRN038 Neuronal Intestinal Dysplasia, Type B 17
1532 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 17
1533 BRN122 Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome 17
1534 c MNT247 Mental Retardation, X-Linked 73 16
1535 ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 16
1536 c SPN420 Spinocerebellar Ataxia 46 16
1537 c MNT328 Mental Retardation, Autosomal Dominant 52 16
1538 c MNT160 Mental Retardation, Autosomal Recessive 31 16
1539 EXT008 Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor 16
1540 c ACQ034 Acquired Central Diabetes Insipidus 16
1541 c MNT194 Mental Retardation, X-Linked 50 16
1542 c MNT324 Mental Retardation, Autosomal Dominant 49 16
1543 ECT104 Ectodermal Dysplasia with Mental Retardation and Syndactyly 16
1544 HRD035 Hair Defect with Photosensitivity and Mental Retardation 16
1545 ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 16
1546 ART029 Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 16
1547 GRW038 Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 16
1548 MNT030 Mental Retardation Syndrome, Belgian Type 16
1549 c MNT323 Mental Retardation, Autosomal Dominant 48 15
1550 OPH013 Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency 15
1551 EHL082 Ehlers-Danlos Syndrome, Beasley-Cohen Type 15
1552 SPS195 Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 15
1553 CHR580 Choroid Plexus Calcification and Mental Retardation 15
1554 MNT255 Mental Retardation and Psoriasis 15
1555 c MNT329 Mental Retardation, Autosomal Dominant 53 15
1556 CRN103 Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 15
1557 MRF017 Marfanoid Mental Retardation Syndrome, Autosomal 15
1558 c SYN082 Syndromic X-Linked Intellectual Disability 14 15
1559 GLL034 Gallbladder Neuroendocrine Tumor 15
1560 c MNT327 Mental Retardation, Autosomal Dominant 51 15
1561 c MNT330 Mental Retardation, Autosomal Dominant 54 15
1562 PLT021 Pili Torti and Developmental Delay 15
1563 c MNT326 Mental Retardation, Autosomal Dominant 50 14
1564 ACT236 Acute Motor and Sensory Axonal Neuropathy 14
1565 CTS046 Cutis Verticis Gyrata and Mental Retardation 14
1566 SPS193 Spastic Paraplegia, Epilepsy, and Mental Retardation 14
1567 NRL001 Neurilemmoma of the Fifth Cranial Nerve 14
1568 PRD033 Periodic Paralysis with Later-Onset Distal Motor Neuropathy 14
1569 c CHR550 Charcot-Marie-Tooth Disease Type 2n 14
1570 c SPR105 Sporadic Fetal Brain Disruption Sequence 14
1571 MNT315 Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 14
1572 HYP671 Hypomyelination Neuropathy-Arthrogryposis Syndrome 14
1573 ACT161 Acute Pandysautonomia 14
1574 CHL046 Childhood Central Nervous System Mixed Germ Cell Tumor 14
1575 CHL027 Childhood Central Nervous System Germinoma 14
1576 RVN001 Ravine Syndrome 14
1577 ACT235 Acute Macular Neuroretinopathy 14
1578 ADL042 Adult Malignant Schwannoma 14
1579 STR102 Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Features 14
1580 NTR002 Nutritional Optic Neuropathy 14
1581 SPS194 Spastic Paresis, Glaucoma, and Mental Retardation 14
1582 DWR021 Dwarfism, Mental Retardation, and Eye Abnormality 14
1583 ACT162 Acute Sensory Ataxic Neuropathy 13
1584 CHL033 Childhood Malignant Schwannoma 13
1585 MNT039 Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 13
1586 THY092 Thymic Neuroendocrine Carcinoma 13
1587 INF124 Infundibulo-Neurohypophysitis 13
1588 CHR628 Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 13
1589 EXT024 Extracranial Neuroblastoma 13
1590 PRK068 Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments 13
1591 CRM012 Cree Mental Retardation Syndrome 13
1592 HYP816 Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes 13
1593 XLN204 X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome 13
1594 MBS006 Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 13
1595 MNT250 Mental Retardation with Spastic Paraplegia 13
1596 NRL021 Neurologic Disease, Infantile Multisystem, with Osseous Fragility 13
1597 MNT316 Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 13
1598 MND028 Mandibulofacial Dysostosis with Mental Retardation 13
1599 DFN340 Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease 12
1600 CRB178 Cerebellar Ataxia and Neurosensory Deafness 12
1601 SCL044 Scalp Syndrome 12
1602 c MNT205 Mental Retardation, X-Linked 42 12
1603 MDN009 Median-Ulnar Nerve Communications 12
1604 c CHR553 Charcot-Marie-Tooth Disease Type 2q 12
1605 c CHR551 Charcot-Marie-Tooth Disease Type 2o 12
1606 MTR081 Motor Neuron Disease with Dementia and Ophthalmoplegia 12
1607 FCL076 Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 12
1608 NDL022 Nodular Neuronal Heterotopia 12
1609 CTR179 Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy 12
1610 c MNT332 Mental Retardation, Autosomal Dominant 56 12
1611 MSC159 Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 12
1612 c DST092 Distal Hereditary Motor Neuropathy Type 7 11
1613 c ALP075 Alopecia-Mental Retardation Syndrome 2 11
1614 SPN388 Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy 11
1615 c SBC037 Subacute Inflammatory Demyelinating Polyneuropathy 11
1616 ART149 Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies 11
1617 PRN067 Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 11
1618 ART055 Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies 11
1619 MDD017 Middle Ear Neuroendocrine Tumor 11
1620 AMY015 Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 11
1621 NRN039 Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 11
1622 LRY052 Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 11
1623 SPT020 Spatial Visualization, Aptitude for 11
1624 XLN092 X-Linked Neurodegenerative Syndrome, Bertini Type 11
1625 VTL010 Vitiligo, Progressive, with Mental Retardation and Urethral Duplication 11
1626 SPN396 Spinal Muscular Atrophy with Mental Retardation 10
1627 OHD002 Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant 10
1628 NRP050 Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 10
1629 NRP061 Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia 10
1630 c ALP063 Alopecia-Mental Retardation Syndrome 3 10
1631 CTS047 Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation 10
1632 HYP783 Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 10
1633 XLN091 X-Linked Neurodegenerative Syndrome, Hamel Type 10
1634 c CHR571 Charcot-Marie-Tooth Disease Type 5 10
1635 OPT029 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 10
1636 SPN397 Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 10
1637 c PRM246 Primary Tethered Cord Syndrome 10
1638 EPT006 Epithelioid Neurofibroma 10
1639 LNT009 Lentiginosis, Centrofacial Neurodysraphic 10
1640 MNT299 Mental and Growth Retardation with Amblyopia 10
1641 MNT331 Mental Retardation, Autosomal Dominant 55, with Seizures 10
1642 MSC144 Muscular Atrophy, Malignant Neurogenic 10
1643 OHD001 Ohdo Syndrome, Maat-Kievit-Brunner Type 9
1644 NRP052 Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine 9
1645 EPL197 Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation 9
1646 SYN091 Syndromic X-Linked Intellectual Disability Nascimento Type 9
1647 DSL004 Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 9
1648 MYL068 Myelinated Optic Nerve Fibers 9
1649 P CRN291 Cranial Nerves, Recurrent Paresis of 9
1650 SCR041 Sucrosuria, Hiatus Hernia and Mental Retardation 9
1651 IND013 Indolylacroyl Glycinuria with Mental Retardation 9
1652 NRP057 Neuropathy, Hereditary Sensory, Atypical 9
1653 TBL001 Tibial Nerve Palsy 9
1654 MLG153 Malignant Peripheral Nerve Sheath Tumor with Perineurial Differentiation 9
1655 PRP018 Peripheral Nerve Schwannoma 9
1656 OPH019 Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 9
1657 NRF004 Neurofibroma of the Esophagus 9
1658 PSD115 Pseudouridinuria and Mental Defect 9
1659 HYP778 Hypertrophic Neuropathy and Cataract 8
1660 NRD038 Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy 8
1661 c CHR315 Charcot-Marie-Tooth Neuropathy Type 4j 8
1662 c CHR121 Charcot-Marie-Tooth Neuropathy X Type 5 8
1663 GLS003 Glossopharyngeal Nerve Paralysis 8
1664 c CRN290 Cranial Nerves, Congenital Paresis of 8
1665 PCN001 Pacinian Tumor 8
1666 NRP058 Neuropathy, Hereditary Sensory, X-Linked 8
1667 NRD020 Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to 9q21 Microdeletion 8
1668 JJN001 Jejunal Somatostatinoma 8
1669 c SYN077 Syndromic X-Linked Intellectual Disability 12 8
1670 MDF003 Modifier, X-Linked, for Neurofunctional Defects 8
1671 HYP797 Hypotonia, Congenital Nystagmus, Ataxia, and Abnormal Auditory Brainstem Responses 8
1672 PRP089 Prp Systemic Amyloidosis 7
1673 CMM002 Common Peroneal Nerve Lesion 7
1674 NRV014 Neurovisceral Storage Disease with Curvilinear Bodies 7
1675 SVR052 Severe Early-Onset Axonal Neuropathy Due to Mfn2 Deficiency 7
1676 RST022 Rosette-Forming Glioneuronal Tumor of Fourth Ventricule 7
1677 CRV015 Cervical Large Cell Neuroendocrine Carcinoma 7
1678 ASY004 Asymmetric Motor Neuropathy 7
1679 P CNT040 Central Nervous System Mature Teratoma 7
1680 P CNT039 Central Nervous System Immature Teratoma 7
1681 CNT027 Central Nervous System Fibrosarcoma 7
1682 CNT021 Central Nervous System Rhabdomyosarcoma 7
1683 MCR344 Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 7
1684 CRT047 Creatine Kinase, Brain Type, Ectopic Expression of 7
1685 INF132 Infantile Osteopetrosis with Neuroaxonal Dysplasia 7
1686 HRD175 Hereditary Motor and Sensory Neuropathy with Acrodystrophy 7
1687 BRS024 Breast Large Cell Neuroendocrine Carcinoma 6
1688 NNT034 Neonatal Brainstem Dysfunction 6
1689 CMB029 Combined Hyperactive Dysfunction Syndrome of the Cranial Nerves 6
1690 PRP020 Peripheral Nervous System Ganglioneuroblastoma 6
1691 NRV013 Nerve Growth Factor, Alpha Subunit 6
1692 c MCR284 Microcephaly and Chorioretinopathy 3 6
1693 c MCR283 Microcephaly and Chorioretinopathy 2 6
1694 c MCR282 Microcephaly and Chorioretinopathy 1 6
1695 NRT003 Neurotrophic Keratoconjunctivitis 6
1696 ACT163 Acute Pure Sensory Neuropathy 6
1697 EMP013 Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation 6
1698 c ADL041 Adult Spinal Cord Ependymoma 6
1699 EXT057 Extensive Peripapillary Myelinated Nerve Fibers 6
1700 CNT034 Central Nervous System Childhood Germ Cell Tumor 6
1701 NRP028 Neuropathy with Hearing Impairment 5
1702 ATS077 Autosomal Dominant Optic Atrophy and Peripheral Neuropathy 5
1703 c ADL040 Adult Brain Ependymoma 5
1704 c CNT032 Central Nervous System Adult Germ Cell Tumor 5
1705 CNT030 Central Nervous System Leiomyosarcoma 5
1706 CNT012 Central Nervous System Chondroma 5
1707 NRV005 Nerve Plexus Neoplasm 5
1708 FTL051 Fatal Post-Viral Neurodegenerative Disorder 5
1709 RCR030 Recurrent Idiopathic Neuroretinitis 5
1710 NRP056 Neuropathy, Hereditary Motor and Sensory, with Excessive Myelin Folding Complex, Autosomal Recessive 5
1711 NRH002 Neurohypophysis Granular Cell Tumor 5
1712 NRD043 Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities 5
1713 c CHR116 Charcot-Marie-Tooth Neuropathy Type 2e/1f 5
1714 SHR110 Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 5
1715 MNT314 Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 5
1716 MCR342 Microcephaly, Macrotia, and Mental Retardation 5
1717 FBR095 Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation 5
1718 ANM047 Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/mental Retardation Syndrome 5
1719 INF150 Infantile Spams-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome 5
1720 FBL015 Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome 5
1721 c ADL029 Adult Central Nervous System Mixed Germ Cell Tumor 5
1722 CNT103 Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome 5
1723 WLL020 Well-Differentiated Thymic Neuroendocrine Carcinoma 5
1724 c FML335 Familial Gastric Type 1 Neuroendocrine Tumor 5
1725 MDR005 Moderately-Differentiated Thymic Neuroendocrine Carcinoma 5
1726 PRL043 Poorly Differentiated Thymic Neuroendocrine Carcinoma 5
1727 OPT075 Optic Atrophy-Peripheral Neuropathy-Developmental Delay Syndrome 5
1728 ATS093 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease with Neuropathic Pain 5
1729 MLN006 Melanocytic Psammomatous Mpnst 5
1730 CNT014 Central Nervous System Osteosarcoma 5
1731 P MXD039 Mixed Germ Cell Tumor of Central Nervous System 5
1732 CHL047 Childhood Central Nervous System Mature Teratoma 4
1733 CHL019 Childhood Central Nervous System Immature Teratoma 4
1734 c ADL012 Adult Central Nervous System Immature Teratoma 4
1735 c ADL011 Adult Central Nervous System Mature Teratoma 4
1736 GLS006 Glossopharyngeal Motor Neuropathy 4
1737 ALZ055 Alzheimer Disease Neuronal Thread Protein 4
1738 GRS004 Gars-Associated Axonal Neuropathy 4
1739 GLT033 Glutamic Acid Decarboxylase, Brain, Membrane Form 4
1740 ERL055 Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome 4
1741 MCR298 Microcephaly-Complex Motor and Sensory Axonal Neuropathy Syndrome 4
1742 NRG007 Neurogenic Palpebral Tumor 4
1743 ATS357 Autosomal Dominant Distal Axonal Motor Neuropathy-Myofibrillar Myopathy Syndrome 4
1744 ERL053 Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome 4
1745 BRN136 Brain Malformation-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome 4
1746 c CHR461 Choriocarcinoma of the Central Nervous System 4
1747 HMN006 Hemangioma of Peripheral Nerve 4
1748 P CHR168 Chorioretinopathy Dominant Form Microcephaly 4
1749 c MCR059 Microcephaly with Chorioretinopathy, Autosomal Dominant Form 4
1750 c MCR048 Microcephaly Chorioretinopathy Recessive Form 4
1751 P NRP005 Neuropathy Sensory Spastic Paraplegia 3
1752 c HRD063 Hereditary Type 2 Neuropathy 3
1753 c HRD062 Hereditary Type 1 Neuropathy 3
1754 NNP015 Nonprogressive Cerebellar Atxia with Mental Retardation 3
1755 SVR100 Severe Neurodevelopmental Disorder with Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract 3
1756 PRR032 Pura-Related Neurodevelopmental Disorders 3
1757 CHD006 Chd2-Related Neurodevelopmental Disorders 3
1758 MNT020 Mental Retardation Macrocephaly Coarse Facies Hypotonia 3
1759 NRN007 Neuronal Interstitial Dysplasia 2
1760 NRM007 Neuroma Biliary Tract 2
1761 BSC002 Bscl2-Related Neurologic Disorders/seipinopathy 2
1762 ATP015 Atp1a3-Related Neurologic Disorders 1
1763 ALK018 Alk-Related Neuroblastic Tumor Susceptibility 1
1764 P PRK057 Parkinson Disease, Late-Onset 78
1765 KPS004 Kaposi Sarcoma 73
1766 P MNN013 Meningitis 71
1767 P SCH015 Schizophrenia 71
1768 P EPL164 Epilepsy 70
1769 P AMY004 Amyloidosis 69
1770 APN008 Apnea, Obstructive Sleep 67
1771 P CWD001 Cowden Disease 67
1772 P ENC004 Encephalitis 66
1773 c MCP049 Mucopolysaccharidosis, Type Vii 64
1774 P MYS005 Myositis 63
1775 c MCP024 Mucopolysaccharidosis Type Vi 61
1776 P DYS154 Dystonia 61
1777 P MCP040 Mucopolysaccharidosis-Plus Syndrome 61
1778 P RHB003 Rhabdomyosarcoma 61
1779 c MCP004 Mucopolysaccharidosis Iv 60
1780 SLP005 Sleep Disorder 59
1781 P LPR021 Leprosy 3 59
1782 RLP002 Relapsing-Remitting Multiple Sclerosis 59
1783 P PLY019 Polyneuropathy 58
1784 CRT016 Carotid Artery Disease 58
1785 TRP002 Tropical Spastic Paraparesis 58
1786 DMY004 Demyelinating Disease 58
1787 P EPL140 Epilepsy, Idiopathic Generalized 58
1788 ATY005 Atypical Teratoid Rhabdoid Tumor 57
1789 c RHB024 Rhabdomyosarcoma 2 56
1790 c ALM001 Al Amyloidosis 56
1791 FCL014 Focal Epilepsy 56
1792 P MGR003 Migraine with Aura 56
1793 P CHL002 Childhood Absence Epilepsy 56
1794 NRT004 Neuritis 55
1795 HDC001 Headache 55
1796 STR020 Strabismus 55
1797 SPS003 Spastic Diplegia 55
1798 MGR028 Migraine with or Without Aura 1 55
1799 P MGL013 Megalencephaly 54
1800 P SMP003 Simpson-Golabi-Behmel Syndrome 54
1801 c CWD006 Cowden Syndrome 1 54
1802 P CNT004 Centronuclear Myopathy 54
1803 ASP003 Aseptic Meningitis 54
1804 TMP001 Temporal Lobe Epilepsy 54
1805 QDR001 Quadriplegia 54
1806 c DYS191 Dystonia 1, Torsion, Autosomal Dominant 53
1807 P MTC133 Mitochondrial Myopathy 53
1808 c VRL007 Viral Encephalitis 53
1809 INT075 Intracranial Hypertension 53
1810 P TRN034 Transverse Myelitis 53
1811 c SCN036 Secondary Progressive Multiple Sclerosis 52
1812 DBT004 Diabetic Polyneuropathy 51
1813 RFL001 Reflex Sympathetic Dystrophy 51
1814 c ERL020 Early-Onset Schizophrenia 51
1815 FCL012 Facial Paralysis 50
1816 HNN001 Hennekam Syndrome 50
1817 GNG002 Ganglioneuroma 50
1818 c PRM108 Primary Progressive Multiple Sclerosis 50
1819 c VRL012 Viral Meningitis 49
1820 P SYR001 Syringomyelia 49
1821 MNN009 Meningoencephalitis 49
1822 P LSS002 Lissencephaly 49
1823 CRB027 Cerebellar Disease 48
1824 P ENC008 Encephalocele 48
1825 PLY020 Polyradiculoneuropathy 48
1826 WRN003 Wernicke Encephalopathy 47
1827 c HRD039 Hereditary Amyloidosis 47
1828 EPL073 Epilepsy, Nocturnal Frontal Lobe, 1 47
1829 P NML001 Nemaline Myopathy 47
1830 HYD061 Hydrocephalus, Normal-Pressure 47
1831 MGR001 Migraine Without Aura 47
1832 c OPT051 Opitz Gbbb Syndrome, Type I 47
1833 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 47
1834 P RSM001 Rasmussen Encephalitis 46
1835 P BLP003 Blepharospasm 46
1836 c MYS051 Myasthenic Syndrome, Congenital, 5 46
1837 P EPN001 Ependymoblastoma 46
1838 c PSD106 Pseudo-Torch Syndrome 1 46
1839 SPS007 Spastic Cerebral Palsy 46
1840 CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 46
1841 CRY014 Cryptococcal Meningitis 45
1842 P HYP263 Hypersomnia 45
1843 MNN001 Meningeal Melanocytoma 45
1844 MNN032 Meningococcal Meningitis 45
1845 c SCH079 Schizophrenia 1 45
1846 P GLL032 Galloway-Mowat Syndrome 45
1847 c ACT159 Acute Transverse Myelitis 45
1848 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 44
1849 c MCP047 Mucopolysaccharidosis, Type Iva 44
1850 BSL008 Basal Ganglia Disease 44
1851 P DNR001 Duane Retraction Syndrome 44
1852 c CHR095 Chronic Progressive External Ophthalmoplegia 44
1853 GNG008 Ganglioneuroblastoma 44
1854 P MNN018 Mannosidosis 44
1855 CRT009 Critical Illness Polyneuropathy 44
1856 P MYF003 Myofibrillar Myopathy 44
1857 HRT030 Hartsfield Syndrome 43
1858 c LKD010 Leukodystrophy, Hypomyelinating, 2 43
1859 CLS049 Classic Phenylketonuria 43
1860 MNN017 Mononeuropathy 42
1861 P JVN007 Juvenile Absence Epilepsy 42
1862 c BNG023 Benign Familial Infantile Epilepsy 42
1863 SYN058 Synucleinopathy 42
1864 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 42
1865 IND012 Indifference to Pain, Congenital, Autosomal Recessive 42
1866 c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 42
1867 LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 42
1868 PLL008 Pallister-Killian Syndrome 41
1869 HYP026 Hypoglycemic Coma 41
1870 ART002 Arts Syndrome 41
1871 ERL001 Early Myoclonic Encephalopathy 41
1872 PRP056 Porphyria, Acute Hepatic 41
1873 P EPL116 Epileptic Encephalopathy, Childhood-Onset 41
1874 FRG008 Fragile X-Associated Tremor/ataxia Syndrome 41
1875 SCR001 Secretory Meningioma 41
1876 DND001 Dandy-Walker Syndrome 41
1877 EXT022 Exotropia 41
1878 CRB009 Cerebritis 41
1879 PDT035 Pediatric Systemic Lupus Erythematosus 41
1880 STR002 Streptococcal Meningitis 40
1881 PLR009 Pol Iii-Related Leukodystrophies 40
1882 c ATM075 Autoimmune Encephalitis 40
1883 PNM013 Pneumococcal Meningitis 40
1884 c DYS146 Dystonia 24 40
1885 MYC033 Myoclonus 40
1886 CHR386 Chromosome 6pter-P24 Deletion Syndrome 40
1887 P CNG024 Congenital Nystagmus 40
1888 MVM001 Movement Disease 40
1889 c MYS078 Myasthenic Syndrome, Congenital, 14 40
1890 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 40
1891 c PRG011 Progressive Myoclonus Epilepsy 40
1892 INT042 Internuclear Ophthalmoplegia 40
1893 P CRB059 Cerebellar Degeneration 40
1894 CHR073 Choreatic Disease 40
1895 c HLP024 Holoprosencephaly 2 40
1896 SCR011 Scrapie 40
1897 RHB002 Rhabdoid Meningioma 40
1898 BSL009 Basal Ganglia Calcification 39
1899 CRB026 Cerebellar Astrocytoma 39
1900 ALG001 Algoneurodystrophy 39
1901 c GM2005 Gm2-Gangliosidosis, Ab Variant 39
1902 P GNR002 Generalized Epilepsy with Febrile Seizures Plus 39
1903 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 39
1904 c HLP026 Holoprosencephaly 3 39
1905 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 39
1906 MNN006 Meninges Hemangiopericytoma 39
1907 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 39
1908 c HLP029 Holoprosencephaly 4 38
1909 CRB148 Cerebral Creatine Deficiency Syndrome 3 38
1910 P CRB088 Cerebral Atrophy 38
1911 c MYC068 Myoclonic Epilepsy of Infancy 38
1912 PRT005 Protoplasmic Astrocytoma 38
1913 c ERL006 Early-Onset Familial Alzheimer Disease 38
1914 MDL003 Medullomyoblastoma 38
1915 MYP139 Myopathy, Proximal, and Ophthalmoplegia 38
1916 PST086 Posterior Cortical Atrophy 38
1917 ESN006 Eosinophilic Meningitis 38
1918 P MNN007 Meningocele 38
1919 CSL001 Causalgia 38
1920 VNM003 Van Maldergem Syndrome 1 38
1921 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 38
1922 c HYD060 Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 38
1923 RTN013 Retinal Hemangioblastoma 38
1924 BLT001 Bilateral Retinoblastoma 38
1925 SML028 Semilobar Holoprosencephaly 38
1926 MYS054 Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency 38
1927 c OPT050 Opitz Gbbb Syndrome, Type Ii 38
1928 BTR002 Beta-Ureidopropionase Deficiency 38
1929 c MYS052 Myasthenic Syndrome, Congenital, 10 38
1930 P LSS024 Lissencephaly with Cerebellar Hypoplasia 37
1931 PLM021 Pilomyxoid Astrocytoma 37
1932 P MYG005 Myoglobinuria