Neuronal Diseases Category (6163 diseases)


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

# Family MCID Name MIFTS
1 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
2 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 52
3 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 53
4 c GLY008 Glycogen Storage Disease Ii 66
5 P GLY013 Glycogen Storage Disease 61
6 c GLY003 Glycogen Storage Disease Iii 61
7 c GLY005 Glycogen Storage Disease Vi 57
8 c GLY004 Glycogen Storage Disease V 56
9 c GLY007 Glycogen Storage Disease Iv 54
10 c GLY011 Glycogen Storage Disease Vii 52
11 c GLY060 Glycogen Storage Disease Ia 50
12 c GLY023 Glycogen Storage Disease Type 0 41
13 c GLY098 Glycogen Storage Disease, Type Ixd 41
14 c GLY044 Glycogen Storage Disease Ixc 40
15 c GLY016 Glycogen Storage Disease Ib 37
16 c GLY057 Glycogen Storage Disease X 33
17 c GLY009 Glycogen Storage Disease Xv 30
18 c GLY017 Glycogen Storage Disease Ic 30
19 c GLY097 Glycogen Storage Disease Ixb 29
20 c GLY043 Glycogen Storage Disease Xii 28
21 c GLY006 Glycogen Storage Disease Viii 27
22 c GLY059 Glycogen Storage Disease Xiii 24
23 c GLY001 Glycogen Storage Disease Ix 23
24 c GLY093 Glycogen Storage Disease Ixa 19
25 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 32
26 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 43
27 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 56
28 NRP051 Neuropathy, Hereditary, with Liability to Pressure Palsies 58
29 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 46
30 MNT304 Mental Retardation, X-Linked, with or Without Seizures, Arx-Related 26
31 c MTC061 Mitochondrial Dna Depletion Syndrome 1 54
32 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 53
33 P MTC010 Mitochondrial Dna Depletion Syndrome 41
34 c MTC062 Mitochondrial Dna Depletion Syndrome 2 33
35 c MTC088 Mitochondrial Dna Depletion Syndrome 13 32
36 c MTC078 Mitochondrial Dna Depletion Syndrome 11 28
37 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 27
38 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 24
39 c MTC129 Mitochondrial Dna Depletion Syndrome 15 24
40 c MTC126 Mitochondrial Dna Depletion Syndrome 14 22
41 c RRM004 Rrm2b-Related Mitochondrial Dna Depletion Syndrome 19
42 c MTC014 Mitochondrial Dna Deletion Syndromes 15
43 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 11
44 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 11
45 HYP186 Hypertrophic Neuropathy of Dejerine-Sottas 48
46 BRN028 Brain Cancer 72
47 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 58
48 MTC036 Mitochondrial Membrane Protein-Associated Neurodegeneration 26
49 ABD002 Abducens Nerve Disease 42
50 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 59
51 c CRD225 Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant 30
52 NRM016 Neuromyotonia and Axonal Neuropathy, Autosomal Recessive 33
53 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 37
54 c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 49
55 P NRP063 Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive 48
56 PTT059 Pettigrew Syndrome 46
57 DBT087 Diabetes Insipidus, Neurohypophyseal 61
58 PNC119 Pancreatic Neuroendocrine Tumor 49
59 MNT303 Mental Retardation, X-Linked, Syndromic, Cabezas Type 30
60 c DST030 Distal Hereditary Motor Neuropathy, Type V 28
61 c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 60
62 P GNT009 Giant Axonal Neuropathy 53
63 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 44
64 CMB026 Combined Oxidative Phosphorylation Deficiency 12 28
65 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 29
66 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 37
67 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 44
68 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 44
69 BRN048 Brain Stem Cancer 40
70 HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 26
71 INT319 Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked 31
72 MLG077 Malignant Peripheral Nerve Sheath Tumor 60
73 ACS001 Acoustic Neuroma 61
74 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 39
75 INS023 Insensitivity to Pain, Congenital, with Anhidrosis 48
76 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 47
77 ART127 Arthrogryposis Multiplex Congenita, Neurogenic Type 37
78 P NRD007 Neurodegeneration with Brain Iron Accumulation 45
79 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 43
80 CWC001 Cowchock Syndrome 36
81 ATH001 Athabaskan Brainstem Dysgenesis Syndrome 29
82 P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 54
83 c ATS421 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect 17
84 CNC002 Cinca Syndrome 64
85 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 34
86 P PRP019 Peripheral Nervous System Disease 66
87 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 52
88 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 42
89 SPN040 Spinal Cancer 41
90 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 41
91 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 41
92 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 40
93 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 38
94 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 38
95 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 37
96 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 36
97 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 36
98 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 36
99 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 36
100 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 35
101 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 34
102 P NRP059 Neuropathy, Hereditary Motor and Sensory, Type Via 34
103 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 33
104 c SPS036 Spastic Paraplegia 3 33
105 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 32
106 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 31
107 c SPS091 Spastic Paraplegia 4 31
108 c SPS021 Spastic Paraplegia 10 30
109 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 30
110 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 29
111 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 29
112 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
113 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 29
114 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 29
115 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 29
116 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 29
117 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 28
118 c HRD186 Hereditary Spastic Paraplegia 51 28
119 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 27
120 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 27
121 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 27
122 c SPS027 Spastic Paraplegia 17 27
123 c SPS041 Spastic Paraplegia 6 25
124 c SPS023 Spastic Paraplegia 13 24
125 c SPS028 Spastic Paraplegia 18 22
126 c SPS034 Spastic Paraplegia 26 22
127 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 21
128 c SPS022 Spastic Paraplegia 12 20
129 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 20
130 c SPS032 Spastic Paraplegia 24 20
131 c HRD210 Hereditary Spastic Paraplegia 23 20
132 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 20
133 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 20
134 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 20
135 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 20
136 c SPS029 Spastic Paraplegia 19 20
137 c SPS035 Spastic Paraplegia 29 19
138 c SPS033 Spastic Paraplegia 25 19
139 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 19
140 c SPS080 Spastic Paraplegia 51 19
141 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 19
142 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 18
143 c SPS026 Spastic Paraplegia 16 18
144 c SPS161 Spastic Paraplegia 32 18
145 c HRD188 Hereditary Spastic Paraplegia 72 18
146 c SPS024 Spastic Paraplegia 14 17
147 c SPS040 Spastic Paraplegia 5b 15
148 c SPS230 Spastic Paraplegia Type 49 14
149 c SPS165 Spastic Paraplegia 47 13
150 c SPT021 Sptlc1-Related Hereditary Sensory Neuropathy 13
151 P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 51
152 c NRN040 Neuronopathy, Distal Hereditary Motor, Type Viib 26
153 P NRV006 Nervous System Cancer 60
154 c SPN335 Spinocerebellar Ataxia Type 1 with Axonal Neuropathy 32
155 NRD030 Neurodegeneration, Childhood-Onset, with Brain Atrophy 21
156 CRP001 Carpal Tunnel Syndrome 71
157 ENC039 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 43
158 ATX010 Ataxia Neuropathy Spectrum 39
159 c PRM039 Primary Angiitis of the Central Nervous System 34
160 c HRD138 Hereditary Motor and Sensory Neuropathy V 31
161 SPL051 Split Spinal Cord Malformation 26
162 NRD024 Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart 24
163 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 52
164 PRT052 Partington X-Linked Mental Retardation Syndrome 43
165 c NRN037 Neuronopathy, Distal Hereditary Motor, Type Va 28
166 NRP049 Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux 19
167 CSY002 Coasy Protein-Associated Neurodegeneration 16
168 P HRD021 Hereditary Sensory Neuropathy 50
169 MSS001 Masa Syndrome 47
170 MLN073 Melanosis, Neurocutaneous 40
171 MGR035 Migraine with Brainstem Aura 21
172 c AMY091 Amyotrophic Lateral Sclerosis 1 90
173 P CRB185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 49
174 MCL009 Mcleod Syndrome 48
175 c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 42
176 c AMY023 Amyotrophic Lateral Sclerosis Type 6 35
177 c AMY089 Amyotrophic Lateral Sclerosis 7 31
178 c AMY022 Amyotrophic Lateral Sclerosis Type 5 26
179 c AMY074 Amyotrophic Lateral Sclerosis Type 14 26
180 c AMY079 Amyotrophic Lateral Sclerosis Type 15 14
181 c AMY109 Amyotrophic Lateral Sclerosis Type 22 11
182 c TRD001 Tardbp-Related Amyotrophic Lateral Sclerosis 7
183 P NRF023 Neurofibromatosis, Type Ii 75
184 c NRF024 Neurofibromatosis, Type I 68
185 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 49
186 RBF002 Riboflavin Transporter Deficiency Neuronopathy 20
187 MSC077 Muscle Eye Brain Disease 45
188 CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 41
189 c CHR647 Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 38
190 MHM001 Mehmo Syndrome 35
191 P CFF008 Coffin-Siris Syndrome 1 56
192 MLT075 Multifocal Motor Neuropathy 49
193 c CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 47
194 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 39
195 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 34
196 c CHR026 Charcot-Marie-Tooth Disease Type X 24
197 c CFF011 Coffin-Siris Syndrome 6 24
198 c FVL008 Foveal Hypoplasia 2 24
199 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 23
200 c CFF006 Coffin-Siris Syndrome 5 23
201 c CHR147 Charcot-Marie-Tooth Disease Type 2k 20
202 c CHR549 Charcot-Marie-Tooth Disease Type 2l 18
203 c CFF013 Coffin-Siris Syndrome 8 17
204 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 16
205 c CHR143 Charcot-Marie-Tooth Disease Type 2g 15
206 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 13
207 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 12
208 c DNJ004 Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 10
209 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 10
210 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 10
211 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 9
212 c CHR572 Charcot-Marie-Tooth Disease Type 7 8
213 P CHR071 Charcot-Marie-Tooth Disease 65
214 LKN001 Leukoencephalopathy with Vanishing White Matter 56
215 CRB151 Cerebral Creatine Deficiency Syndrome 1 51
216 NRT001 Neurotic Disorder 47
217 CHR629 Charcot-Marie-Tooth Disease and Deafness 45
218 P ADT009 Auditory Neuropathy Spectrum Disorder 36
219 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 35
220 MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 28
221 c NRN025 Neuronopathy, Distal Hereditary Motor, Type Viia 26
222 P HYP553 Hyperphosphatasia with Mental Retardation Syndrome 3 24
223 c FRT006 Fourth Cranial Nerve Palsy, Familial Congenital 18
224 P PLZ001 Pelizaeus-Merzbacher Disease 64
225 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 62
226 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 57
227 ATN002 Autonomic Nervous System Disease 56
228 c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 55
229 c CNT033 Central Nervous System Cancer 54
230 c GRS014 Griscelli Syndrome, Type 2 48
231 P OPT070 Optic Nerve Hypoplasia, Bilateral 48
232 c MNT143 Mental Retardation, Autosomal Dominant 13 42
233 c GRS013 Griscelli Syndrome, Type 1 39
234 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 39
235 MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 37
236 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 35
237 P MSC002 Muscular Dystrophy-Dystroglycanopathy 35
238 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 34
239 c PLZ002 Pelizaeus-Merzbacher-Like Disease 30
240 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 28
241 MBD001 Mbd5 Haploinsufficiency 27
242 c MNT301 Mental Retardation, X-Linked 21 26
243 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 24
244 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 23
245 SCP005 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 19
246 SPN186 Spinal Cord Injury 66
247 TXC002 Toxic Encephalopathy 57
248 NRN004 Neuroendocrine Tumor 56
249 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 50
250 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 49
251 CHR105 Choreoacanthocytosis 49
252 MTR007 Motor Peripheral Neuropathy 41
253 c ADT007 Auditory Neuropathy, Autosomal Dominant, 1 30
254 NRP009 Neuropathy, Hereditary Motor and Sensory, Okinawa Type 26
255 LKN010 Leukoencephalopathy with Dystonia and Motor Neuropathy 24
256 c NRN024 Neuronopathy, Distal Hereditary Motor, Type Vb 22
257 P GLL022 Guillain-Barre Syndrome 66
258 P NRN021 Neuronal Ceroid Lipofuscinosis 60
259 LKN025 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 56
260 P PRP021 Peripheral Nervous System Neoplasm 51
261 c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 43
262 c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 34
263 CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 32
264 MNT056 Mental Retardation, X-Linked, Syndromic, Nascimento Type 26
265 c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 25
266 c NRN041 Neuronopathy, Distal Hereditary Motor, Type Iib 23
267 CRP034 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 23
268 c NRN026 Neuronopathy, Distal Hereditary Motor, Type Iid 22
269 c NRN018 Neuronopathy, Distal Hereditary Motor, Type Iic 21
270 c NRN035 Neuronopathy, Distal Hereditary Motor, Type Iia 20
271 CHR639 Chromosome Xp11.22 Duplication Syndrome 14
272 EPD081 Epidermoid Brain Cyst 13
273 P NMN002 Niemann-Pick Disease 61
274 BLM002 Bulimia Nervosa 61
275 c NMN016 Niemann-Pick Disease, Type B 58
276 P CTS001 Cutis Laxa 58
277 c NMN013 Niemann-Pick Disease, Type a 57
278 ERY029 Erythermalgia, Primary 57
279 BRJ001 Borjeson-Forssman-Lehmann Syndrome 54
280 CNV004 Canavan Disease 53
281 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
282 c ATS393 Autosomal Recessive Cutis Laxa Type I 50
283 c CTS045 Cutis Laxa, Autosomal Dominant 1 49
284 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 46
285 LBS001 Lubs X-Linked Mental Retardation Syndrome 44
286 NRF008 Neurofibromatosis-Noonan Syndrome 43
287 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 40
288 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 39
289 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 38
290 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 35
291 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 34
292 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 32
293 c ACQ027 Acquired Cutis Laxa 31
294 SCP002 Scapuloperoneal Spinal Muscular Atrophy 30
295 c CTS031 Cutis Laxa, Autosomal Dominant 2 29
296 c CTS041 Cutis Laxa, Autosomal Dominant 3 27
297 RJB002 Rajab Interstitial Lung Disease with Brain Calcifications 25
298 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 24
299 c ATP003 Atp6v0a2-Related Cutis Laxa 22
300 FCL042 Facial Onset Sensory and Motor Neuronopathy 21
301 RTN207 Retinopathy, Pigmentary, and Mental Retardation 19
302 c EFM001 Efemp2-Related Cutis Laxa 18
303 c LTB003 Ltbp4-Related Cutis Laxa 17
304 P GRN052 Grin2b-Related Neurodevelopmental Disorder 10
305 c FBL003 Fbln5-Related Cutis Laxa 9
306 PCK003 Pick Disease of Brain 64
307 MTR014 Motor Neuron Disease 60
308 SNS003 Sensory Peripheral Neuropathy 56
309 CNT019 Central Neurocytoma 47
310 c GNT049 Giant Axonal Neuropathy 1, Autosomal Recessive 42
311 c CRD226 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive 37
312 WCK001 Wieacker-Wolff Syndrome 35
313 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 33
314 c DST027 Distal Hereditary Motor Neuropathy, Type Ii 31
315 RYN006 Raynaud-Claes Syndrome 27
316 CNG102 Congenital Hypomyelination Neuropathy 20
317 ALP025 Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 11
318 P VSC017 Visceral Neuropathy Familial 8
319 P MDL005 Medulloblastoma 76
320 P BRN035 Brain Stem Glioma 52
321 NRV004 Nerve Compression Syndrome 39
322 c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 33
323 c SPN430 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 31
324 NRP010 Neuropathy, Hereditary Motor and Sensory, Russe Type 30
325 c MNT296 Mental Retardation, X-Linked, Syndromic 34 29
326 PDT045 Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus Infections 27
327 MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 24
328 c MNT305 Mental Retardation, X-Linked 12 21
329 MCR046 Microcephaly Brain Defect Spasticity Hypernatremia 13
330 ACC001 Accessory Nerve Disease 13
331 HYP028 Hypoglossal Nerve Disease 12
332 CRN305 Corneal Neuropathic Disease 6
333 NRF007 Neurofibroma 66
334 DBT010 Diabetic Neuropathy 60
335 P EPS003 Episodic Ataxia 59
336 c EPS035 Episodic Ataxia, Type 2 57
337 LGS001 Legius Syndrome 51
338 c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 47
339 c EPS017 Episodic Ataxia, Type 6 39
340 c EPS037 Episodic Ataxia, Type 4 31
341 c HYP441 Hyperphosphatasia with Mental Retardation Syndrome 1 31
342 MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 31
343 c EPS015 Episodic Ataxia, Type 7 30
344 c EPS014 Episodic Ataxia, Type 3 25
345 c EPS034 Episodic Ataxia, Type 5 23
346 c EPS033 Episodic Ataxia, Type 8 20
347 c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 20
348 VGS001 Vagus Nerve Disease 16
349 ANG067 Angioma, Hereditary Neurocutaneous 15
350 ANR007 Anorexia Nervosa 68
351 NRM005 Neuromuscular Disease 61
352 NRN001 Neuroendocrine Carcinoma 53
353 CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 38
354 c CRD239 Ceroid Lipofuscinosis, Neuronal, 13 37
355 CRN033 Cranial Nerve Malignant Neoplasm 37
356 c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 35
357 c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 31
358 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 28
359 c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 28
360 P NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 26
361 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 26
362 NRD057 Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects 26
363 c NRP036 Neuropathy, Hereditary Sensory, Type if 25
364 c NRP039 Neuropathy, Hereditary Sensory, Type Id 22
365 OLF001 Olfactory Nerve Disease 21
366 PRT015 Partial Third-Nerve Palsy 21
367 SYN062 Syncope, Familial Vasovagal 21
368 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 20
369 SPN350 Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration 19
370 SPS197 Spastic Paraplegia with Neuropathy and Poikiloderma 18
371 SYN092 Syndromic X-Linked Intellectual Disability Cabezas Type 18
372 SND001 Sandhoff Disease 65
373 c LPD015 Lipodystrophy, Familial Partial, Type 2 60
374 ART141 Arteriovenous Malformations of the Brain 59
375 P FML012 Familial Partial Lipodystrophy 52
376 c LPD021 Lipodystrophy, Familial Partial, Type 3 51
377 c LPD019 Lipodystrophy, Partial, Acquired 44
378 c LPD040 Lipodystrophy, Familial Partial, Type 1 43
379 NRN016 Neuronal Migration Disorders 40
380 AMY086 Amyotrophy, Hereditary Neuralgic 38
381 MNT310 Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 37
382 c LPD034 Lipodystrophy, Familial Partial, Type 4 36
383 CNT007 Central Nervous System Tuberculosis 35
384 c MTC058 Mitochondrial Dna Depletion Syndrome 6 34
385 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 33
386 JHN004 Johnson Neuroectodermal Syndrome 32
387 c NRP062 Neuropathy - Hereditary 27
388 c LPD036 Lipodystrophy, Familial Partial, Type 6 27
389 c LPD044 Lipodystrophy, Familial Partial, Type 7 26
390 c LPD030 Lipodystrophy, Familial Partial, Type 5 25
391 c NRN027 Neuronopathy, Distal Hereditary Motor, Type I 23
392 RLN001 Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 19
393 DFN305 Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy 19
394 c MNT196 Mental Retardation, X-Linked 92 18
395 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 18
396 PNF001 Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus Syndrome 7
397 P CNG412 Congenital Disorder of Glycosylation, Type Ii 52
398 c CNG497 Congenital Disorder of Glycosylation, Type Iio 44
399 c CNG190 Congenital Disorder of Glycosylation, Type Iib 43
400 c CNG504 Congenital Disorder of Glycosylation, Type Iip 43
401 c CNG201 Congenital Disorder of Glycosylation, Type Iij 42
402 c CNG204 Congenital Disorder of Glycosylation, Type Iih 42
403 TTH004 Tethered Spinal Cord Syndrome 42
404 c CNG209 Congenital Disorder of Glycosylation, Type Iif 41
405 P MNT319 Mental Retardation, Autosomal Dominant 20 41
406 GNC003 Geniculate Herpes Zoster 40
407 c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 39
408 c CNG383 Congenital Disorder of Glycosylation, Type Iik 38
409 c CNG498 Congenital Disorder of Glycosylation, Type Iin 37
410 c CNG379 Congenital Disorder of Glycosylation, Type It 36
411 MLN001 Melanotic Neuroectodermal Tumor 34
412 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
413 c CNG205 Congenital Disorder of Glycosylation, Type Ij 32
414 c CNG200 Congenital Disorder of Glycosylation, Type Iq 32
415 LJN003 Lujan-Fryns Syndrome 32
416 c CNG198 Congenital Disorder of Glycosylation, Type Il 32
417 c CNG199 Congenital Disorder of Glycosylation, Type Im 32
418 CRB024 Cerebral Neuroblastoma 32
419 c CNG414 Congenital Disorder of Glycosylation, Type Iil 31
420 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
421 CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 31
422 c CNG185 Congenital Disorder of Glycosylation, Type Iig 30
423 c CNG386 Congenital Disorder of Glycosylation, Type Iu 30
424 c CNG194 Congenital Disorder of Glycosylation, Type Ig 30
425 c MNT155 Mental Retardation, Autosomal Recessive 2 29
426 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
427 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 29
428 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 29
429 c NRP043 Neuropathy, Hereditary Motor and Sensory, Type Vib 28
430 c CNG193 Congenital Disorder of Glycosylation, Type Ip 28
431 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
432 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
433 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
434 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 27
435 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 27
436 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 25
437 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 24
438 SLW005 Slowed Nerve Conduction Velocity, Autosomal Dominant 20
439 c MNT200 Mental Retardation, X-Linked 97 19
440 TRC015 Trochlear Nerve Disease 13
441 ADS006 Aids - Neurological Complications 5
442 LGH007 Leigh Syndrome 67
443 MBS002 Moebius Syndrome 55
444 OLF005 Olfactory Neuroblastoma 52
445 c MTC054 Mitochondrial Dna Depletion Syndrome 7 46
446 NRN005 Neuronal Ceroid-Lipofuscinoses 46
447 P ATS366 Autism X-Linked 2 44
448 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 44
449 c HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 42
450 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies 42
451 CRN031 Cranial Nerve Disease 41
452 P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 39
453 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 39
454 GLT018 Glut1 Deficiency Syndrome 1 38
455 OPT008 Optic Nerve Neoplasm 38
456 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 36
457 NRS005 Neurosarcoidosis 36
458 P CNT037 Central Nervous System Germinoma 36
459 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 33
460 GLL028 Gillespie Syndrome 33
461 MNT302 Mental Retardation, X-Linked, Syndromic, Christianson Type 31
462 AMY005 Amyloid Neuropathy 30
463 PRM284 Primitive Neuroectodermal Tumor of the Cervix Uteri 30
464 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 29
465 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 27
466 THR010 Third Cranial Nerve Disease 27
467 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 27
468 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 27
469 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 27
470 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 27
471 NRD028 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 26
472 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 26
473 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 26
474 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 26
475 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 25
476 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 25
477 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 25
478 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 25
479 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 25
480 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 24
481 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 24
482 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 24
483 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 24
484 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 24
485 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 24
486 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 24
487 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 24
488 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 24
489 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 24
490 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 23
491 c EPL234 Epileptic Encephalopathy, Early Infantile, 70 23
492 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 23
493 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 23
494 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 23
495 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 23
496 RCT005 Rectum Neuroendocrine Neoplasm 23
497 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 23
498 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 22
499 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 22
500 NRG006 Neurogenic Thoracic Outlet Syndrome 22
501 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 21
502 MCR123 Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy 20
503 c EPL238 Epileptic Encephalopathy, Early Infantile, 73 19
504 c EPL239 Epileptic Encephalopathy, Early Infantile, 74 18
505 c EPL237 Epileptic Encephalopathy, Early Infantile, 72 18
506 SPN045 Spinal Cord Primitive Neuroectodermal Neoplasm 10
507 LWG004 Low-Grade Neuroendocrine Tumor of the Corpus Uteri 8
508 LPS008 Lupus - Neurological Sequelae 6
509 INT030 Intracranial Aneurysm 59
510 CYS005 Cysticercosis 59
511 ALX003 Alexander Disease 58
512 TRM010 Traumatic Brain Injury 56
513 NRL004 Neuroleptic Malignant Syndrome 52
514 P NRB010 Neuroblastoma 1 51
515 CNV002 Conversion Disorder 42
516 NRF003 Neurofibrosarcoma 42
517 BKR002 Baker-Gordon Syndrome 40
518 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 38
519 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 38
520 c CHR653 Charcot-Marie-Tooth Disease, Demyelinating, Type 1d 37
521 BRN005 Brain Glioblastoma Multiforme 36
522 c CHR656 Charcot-Marie-Tooth Disease, Demyelinating, Type 1f 36
523 CRT081 Cortical Dysplasia, Complex, with Other Brain Malformations 7 35
524 c TRC101 Trichothiodystrophy 4, Nonphotosensitive 33
525 c PRM195 Primary Lateral Sclerosis, Juvenile 31
526 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 31
527 3MT022 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia 30
528 VST006 Vestibulocochlear Nerve Disease 28
529 WSM002 Waisman Syndrome 26
530 c NRP065 Neuropathy, Congenital Hypomyelinating, 3 24
531 MNT307 Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 23
532 c TRC103 Trichothiodystrophy 5, Nonphotosensitive 23
533 c CRB195 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 20
534 c TRC117 Trichothiodystrophy 6, Nonphotosensitive 19
535 c NRB015 Neuroblastoma 2 19
536 CMP082 Complex Cortical Dysplasia with Other Brain Malformations 16
537 c NRN042 Neuronopathy, Distal Hereditary Motor, Type Ix 14
538 LYM055 Lyme Disease - Neurological Complications 7
539 P HNT016 Huntington Disease 73
540 MLT157 Multiple System Atrophy 1 72
541 P NRV007 Nervous System Disease 71
542 OBS002 Obsessive-Compulsive Disorder 68
543 c NMN015 Niemann-Pick Disease, Type C1 67
544 c CNT035 Central Nervous System Disease 65
545 P MCH002 Machado-Joseph Disease 63
546 ACT049 Acute Disseminated Encephalomyelitis 56
547 c HNT010 Huntington Disease-Like 1 50
548 EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 46
549 P GST047 Gastrointestinal Neuroendocrine Tumor 41
550 CHR174 Christianson Syndrome 36
551 P FRT001 Fourth Cranial Nerve Palsy 32
552 ABC001 Abcd Syndrome 32
553 46X053 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 29
554 c MNT210 Mental Retardation, Autosomal Recessive 42 29
555 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 27
556 c NRP064 Neuropathy, Congenital Hypomyelinating, 2 27
557 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 27
558 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 27
559 SPN043 Spinal Cord Glioma 26
560 c MNT236 Mental Retardation, Autosomal Dominant 39 26
561 c JVN015 Juvenile Huntington Disease 26
562 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 26
563 PRN033 Paraneoplastic Neurologic Disorders 25
564 c SPS020 Spastic Paraplegia 1 25
565 PRP075 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 24
566 CNG382 Congenital Cataracts, Hearing Loss, and Neurodegeneration 24
567 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 24
568 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 24
569 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 23
570 HMR018 Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 23
571 c NRP055 Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive 22
572 c GNT040 Giant Axonal Neuropathy 2, Autosomal Dominant 22
573 NRL023 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 22
574 SPN026 Spinal Cord Lymphoma 21
575 NRD031 Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 21
576 STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 21
577 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy 20
578 c MCH013 Machado-Joseph Disease Type 3 19
579 c MCH012 Machado-Joseph Disease Type 1 19
580 c MCH014 Machado-Joseph Disease Type 2 19
581 MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 18
582 c HNT014 Huntington Disease-Like Syndrome Due to C9orf72 Expansions 17
583 CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 13
584 c CL4005 Col4a1-Related Brain Small-Vessel Disease 7
585 CRV044 Cervical Hypertrichosis Peripheral Neuropathy 4
586 P MTC003 Metachromatic Leukodystrophy 70
587 LYM017 Lyme Disease 70
588 CRT072 Creutzfeldt-Jakob Disease 67
589 P SPN429 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 58
590 ATY005 Atypical Teratoid Rhabdoid Tumor 57
591 SPN041 Spinal Cord Disease 54
592 NRS003 Neurosyphilis 46
593 c SPN311 Spinocerebellar Ataxia 13 46
594 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 44
595 SPR008 Supratentorial Primitive Neuroectodermal Tumor 43
596 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 41
597 P CRN035 Cranial Nerve Palsy 40
598 SPR066 Superficial Siderosis 40
599 P CRB059 Cerebellar Degeneration 40
600 NRG003 Neurogenic Arthropathy 37
601 WHT019 White-Sutton Syndrome 36
602 c ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 35
603 c SPN247 Spinocerebellar Ataxia Type 19/22 34
604 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 34
605 TRS001 Tarsal Tunnel Syndrome 34
606 c CFF010 Coffin-Siris Syndrome 3 34
607 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 33
608 PRT055 Prieto X-Linked Mental Retardation Syndrome 32
609 BRN049 Brain Tumor, Childhood 32
610 ATM098 Autoimmune Peripheral Neuropathy 32
611 P NNS031 Non-Syndromic Intellectual Disability 32
612 XGB001 Xia-Gibbs Syndrome 30
613 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 29
614 OCL003 Oculomotor Nerve Paralysis 28
615 c MTC074 Metachromatic Leukodystrophy, Adult Form 28
616 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 27
617 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 27
618 c MNT262 Mental Retardation, Autosomal Dominant 42 27
619 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 27
620 PDT043 Pediatric Acute-Onset Neuropsychiatric Syndrome 27
621 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 27
622 c MNT270 Mental Retardation, Autosomal Recessive 53 27
623 MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 27
624 c PRM015 Primary Cerebellar Degeneration 27
625 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 26
626 c MNT295 Mental Retardation, X-Linked, Syndromic 33 25
627 c SPN102 Spinocerebellar Ataxia 30 24
628 c CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 23
629 CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 22
630 CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 22
631 c SPN107 Spinocerebellar Ataxia 9 22
632 MNT254 Mental Retardation Syndrome, Mietens-Weber Type 21
633 ARM006 Armfield X-Linked Mental Retardation Syndrome 21
634 CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 20
635 CRT073 Cortical Dysplasia, Complex, with Other Brain Malformations 5 20
636 RDL001 Radial Nerve Lesion 20
637 CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 20
638 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 19
639 NRF025 Neurofibromatosis, Type Iii, Mixed Central and Peripheral 19
640 XLN134 X-Linked Intellectual Disability, Siderius Type 18
641 CHL057 Childhood Brain Stem Glioma 17
642 PCD002 Pcdh19-Related Female-Limited Epilepsy 16
643 DFF020 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia 16
644 HND013 Handl Syndrome 15
645 PRN063 Peroneal Nerve, Accessory Deep 15
646 CTR173 Cataract, Ataxia, Short Stature, and Mental Retardation 15
647 HGH030 High-Grade Neuroendocrine Carcinoma of the Cervix Uteri 12
648 XLN174 X-Linked Non-Syndromic Sensorineural Deafness Type Dfn 12
649 c GRD008 Grid2-Related Spinocerebellar Ataxia 12
650 LNG002 Lung Combined Large Cell Neuroendocrine Carcinoma 11
651 NRV002 Nerve Fibre Bundle Defect 11
652 SYN083 Syndromic X-Linked Intellectual Disability Shashi Type 10
653 TTL002 Total Third-Nerve Palsy 9
654 MLG073 Malignant Melanocytic Neoplasm of the Peripheral Nerve Sheath 8
655 HGH029 High-Grade Neuroendocrine Carcinoma of the Corpus Uteri 8
656 MLG028 Malignant Neoplasm of Acoustic Nerve 8
657 c OPT030 Optic Nerve Hypoplasia, Familial Bilateral 8
658 MCR286 Microcephaly-Intellectual Disability-Phalangeal and Neurological Anomalies Syndrome 7
659 SPN022 Spinal Cord Neuroblastoma 7
660 c ADL022 Adult Central Nervous System Primitive Neuroectodermal Neoplasm 6
661 CHL022 Childhood Central Nervous System Primitive Neuroectodermal Neoplasm 6
662 ART040 Arthrogryposis Epileptic Seizures Migrational Brain Disorder 4
663 TMR014 Tumor of Cranial and Spinal Nerves 4
664 MBS003 Moebius Axonal Neuropathy Hypogonadism 3
665 ACR008 Acrocallosal Syndrome 60
666 c GM1007 Gm1 Gangliosidosis 58
667 PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 56
668 P SJG002 Sjogren-Larsson Syndrome 55
669 BLL003 Bell's Palsy 53
670 c MCR256 Microphthalmia, Syndromic 9 52
671 c GM2006 Gm2 Gangliosidosis 49
672 P GNG009 Gangliosidosis 47
673 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 44
674 ASY002 Asymptomatic Neurosyphilis 43
675 P SPS133 Spastic Paraplegia 2, X-Linked 42
676 c MCR263 Microphthalmia, Syndromic 1 40
677 c MCR261 Microphthalmia, Syndromic 2 40
678 FMR003 Femoral Neuropathy 39
679 BRN036 Brain Stem Infarction 38
680 c BRT038 Baraitser-Winter Syndrome 1 38
681 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 37
682 P BRT040 Baraitser-Winter Syndrome 37
683 c SPN094 Spinocerebellar Ataxia 18 37
684 SCH074 Schuurs-Hoeijmakers Syndrome 36
685 c ADL054 Adult Brain Stem Glioma 36
686 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 34
687 c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 34
688 TBS001 Tabes Dorsalis 33
689 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 33
690 BRK002 Birk-Barel Syndrome 32
691 c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 32
692 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 31
693 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 30
694 c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 29
695 c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 29
696 c SPS092 Spastic Paraplegia 11 29
697 c BRT039 Baraitser-Winter Syndrome 2 28
698 c MNT157 Mental Retardation, Autosomal Dominant 18 28
699 c MCR245 Microphthalmia, Syndromic 8 27
700 c MCR312 Microphthalmia, Syndromic 10 26
701 c MNT273 Mental Retardation, Autosomal Dominant 44 26
702 c MCR212 Microphthalmia, Syndromic 12 26
703 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 26
704 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24
705 c MCR228 Microphthalmia, Syndromic 13 24
706 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 23
707 MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 23
708 c MCR217 Microphthalmia, Syndromic 11 22
709 CRT082 Cortical Dysplasia, Complex, with Other Brain Malformations 8 22
710 c GLY108 Glycosylphosphatidylinositol Biosynthesis Defect 18 21
711 c GLY106 Glycosylphosphatidylinositol Biosynthesis Defect 11 21
712 KHR001 Kahrizi Syndrome 21
713 c SPS062 Spastic Paraplegia 34, X-Linked 21
714 TRT002 Tertiary Neurosyphilis 21
715 c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 20
716 DND017 Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures 20
717 P CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 20
718 c NRB014 Neuroblastoma 3 19
719 NRD051 Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness 18
720 BRN011 Brain Stem Astrocytic Neoplasm 17
721 LCL011 Localized Hypertrophic Neuropathy 16
722 c GM2001 Gm2 Gangliosidosis, 0 Variant 11
723 c GM2002 Gm2-Gangliosidosis, B, B1, Ab Variant 9
724 CHL055 Childhood Germ Cell Brain Tumor 8
725 c SJG003 Sjogren-Larsson-Like Syndrome 7
726 STR067 Stroke, Ischemic 82
727 P MNN013 Meningitis 69
728 DBT083 Diabetes Mellitus, Permanent Neonatal 60
729 P TRC102 Trichothiodystrophy 1, Photosensitive 59
730 PRG009 Progressive Multifocal Leukoencephalopathy 57
731 THR013 Thoracic Outlet Syndrome 56
732 BRN071 Brain Injury 55
733 SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 49
734 ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 49
735 RSS026 Roussy-Levy Hereditary Areflexic Dystasia 49
736 CNT025 Central Pontine Myelinolysis 48
737 NRL002 Neurilemmomatosis 47
738 P CHR342 Chiari Malformation 46
739 NRN008 Neuronal Intranuclear Inclusion Disease 44
740 HLS003 Helsmoortel-Van Der Aa Syndrome 43
741 ADP007 Adie Pupil 42
742 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 41
743 c CFF009 Coffin-Siris Syndrome 4 40
744 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 39
745 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 37
746 P MYC078 Myoclonus and Ataxia 37
747 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 37
748 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 36
749 MLG041 Malignant Triton Tumor 36
750 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 36
751 CRN034 Cranial Nerve Neoplasm 35
752 c CHR091 Chronic Meningitis 33
753 SPN185 Spinal Cord Infarction 33
754 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 32
755 TMT003 Temtamy Syndrome 32
756 c MCR329 Microcephaly, Autosomal Dominant 31
757 c CFF007 Coffin-Siris Syndrome 2 30
758 c MNT185 Mental Retardation, Autosomal Dominant 7 30
759 c MNT212 Mental Retardation, Autosomal Dominant 26 28
760 c MNT241 Mental Retardation, Autosomal Dominant 32 28
761 c MNT246 Mental Retardation, Autosomal Dominant 38 28
762 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 28
763 P SPN042 Spinal Cord Ependymoma 28
764 c CNT068 Central Pain Syndrome 28
765 c MNT298 Mental Retardation, X-Linked, Syndromic, 35 27
766 P MRL001 Meralgia Paresthetica 27
767 MDR004 Madras Motor Neuron Disease 27
768 c MNT226 Mental Retardation, Autosomal Dominant 31 27
769 c MNT324 Mental Retardation, Autosomal Dominant 49 26
770 c MNT222 Mental Retardation, Autosomal Dominant 29 26
771 c MNT214 Mental Retardation, Autosomal Dominant 24 26
772 c MNT239 Mental Retardation, Autosomal Dominant 35 26
773 c MNT184 Mental Retardation, Autosomal Dominant 11 26
774 c MNT325 Mental Retardation, Autosomal Recessive 61 26
775 c MNT322 Mental Retardation, Autosomal Dominant 27 26
776 c MNT211 Mental Retardation, Autosomal Dominant 23 26
777 c MNT150 Mental Retardation, Autosomal Recessive 15 26
778 c MNT219 Mental Retardation, Autosomal Dominant 30 25
779 c MNT238 Mental Retardation, Autosomal Dominant 34 25
780 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 25
781 c MNT321 Mental Retardation, Autosomal Recessive 37 25
782 ENC047 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 25
783 c MNT186 Mental Retardation, Autosomal Dominant 10 25
784 c MNT272 Mental Retardation, Autosomal Dominant 41 25
785 c MNT245 Mental Retardation, Autosomal Dominant 36 25
786 c MNT179 Mental Retardation, Autosomal Dominant 21 24
787 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 24
788 c MNT154 Mental Retardation, Autosomal Recessive 14 24
789 CLN039 Cln4 Disease 24
790 c MCR269 Microcephaly 15, Primary, Autosomal Recessive 24
791 c MNT207 Mental Retardation, X-Linked, Syndromic 32 23
792 OVR005 Ovarian Large-Cell Neuroendocrine Carcinoma 23
793 NRD039 Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language 23
794 c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 22
795 c MCR360 Microcephaly 20, Primary, Autosomal Recessive 22
796 PRM183 Primary Aldosteronism, Seizures, and Neurologic Abnormalities 22
797 EPL170 Epilepsy-Aphasia Spectrum 21
798 c MNT151 Mental Retardation, Autosomal Recessive 18 21
799 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 21
800 NRD026 Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies 21
801 c MNT240 Mental Retardation, Autosomal Dominant 33 21
802 c CHR681 Charcot-Marie-Tooth Disease, Demyelinating, Type 1g 21
803 c MCR356 Microcephaly 19, Primary, Autosomal Recessive 21
804 NRD040 Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter 20
805 c MCR361 Microcephaly 21, Primary, Autosomal Recessive 19
806 c MCR362 Microcephaly 22, Primary, Autosomal Recessive 19
807 P BRN030 Brain Ependymoma 17
808 c MCR368 Microcephaly 24, Primary, Autosomal Recessive 17
809 GLS008 Glossopharyngeal Nerve Disease 17
810 c MCR363 Microcephaly 23, Primary, Autosomal Recessive 17
811 KRK002 Karak Syndrome 16
812 PNC065 Pinched Nerve 16
813 MNT057 Mental Retardation, X-Linked, Syndromic, Raymond Type 16
814 c MCR372 Microcephaly 25, Primary, Autosomal Recessive 15
815 c GSR001 Gosr2-Related Progressive Myoclonus Ataxia 15
816 CRP036 Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome 14
817 OCL031 Oculo-Cerebral Dysplasia 13
818 c CHR161 Chiari Malformation Type 3 11
819 c MRL006 Meralgia Paraesthetica, Familial 10
820 SPN003 Spinal Cord Dermoid Cyst 9
821 c CHR162 Chiari Malformation Type 4 8
822 ICH006 Ichthyosis Alopecia Eclabion Ectropion Mental Retardation 6
823 PLT009 Pili Torti Developmental Delay Neurological Abnormalities 5
824 BRN069 Brain and Spinal Tumors 5
825 GTD002 Gatad2b-Associated Neurodevelopmental Disorder 4
826 P EPL164 Epilepsy 72
827 CRB037 Cerebral Palsy 71
828 P MCR115 Microvascular Complications of Diabetes 5 70
829 GLL008 Gilles De La Tourette Syndrome 67
830 c MCR129 Microvascular Complications of Diabetes 1 66
831 P FRD012 Friedreich Ataxia 1 66
832 c MCR113 Microvascular Complications of Diabetes 3 58
833 c EPS042 Episodic Ataxia, Type 1 58
834 c GM1004 Gm1-Gangliosidosis, Type I 56
835 PRN023 Prion Disease 54
836 P PTT014 Pitt-Hopkins Syndrome 54
837 P TRN034 Transverse Myelitis 53
838 WRN002 Wernicke-Korsakoff Syndrome 52
839 P PRV002 Periventricular Nodular Heterotopia 50
840 c GM2005 Gm2-Gangliosidosis, Ab Variant 49
841 P LSS002 Lissencephaly 49
842 c CHR579 Chiari Malformation Type Ii 49
843 ISC002 Ischemic Optic Neuropathy 48
844 PPL058 Papilloma of Choroid Plexus 48
845 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 47
846 P GLT035 Glutaric Acidemia I 46
847 c MCR120 Microvascular Complications of Diabetes 7 46
848 CRB150 Cerebral Creatine Deficiency Syndrome 2 45
849 c ACT159 Acute Transverse Myelitis 45
850 c MCR130 Microvascular Complications of Diabetes 6 43
851 c MCR133 Microvascular Complications of Diabetes 4 43
852 c BNG023 Benign Familial Infantile Epilepsy 43
853 c MCR112 Microvascular Complications of Diabetes 2 42
854 CRB033 Cerebral Degeneration 41
855 CDQ001 Cauda Equina Syndrome 40
856 PLX002 Plexiform Neurofibroma 39
857 DYS006 Dysembryoplastic Neuroepithelial Tumor 36
858 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 35
859 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 34
860 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 33
861 c SPN105 Spinocerebellar Ataxia 4 33
862 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 33
863 HNM002 Hinman Syndrome 31
864 MLS013 Miles-Carpenter Syndrome 31
865 SML004 Small Intestine Neuroendocrine Neoplasm 31
866 WYB002 Wyburn-Mason Syndrome 31
867 HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 29
868 c ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 28
869 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 27
870 MTR031 Motor Neuro-Ophthalmic Disorders 27
871 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 27
872 NRP048 Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration 26
873 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 26
874 TRG004 Trigeminal Nerve Neoplasm 25
875 c PTT030 Pitt-Hopkins-Like Syndrome 2 25
876 P MNT198 Mental Retardation, X-Linked 98 25
877 OLF004 Olfactory Nerve Neoplasm 25
878 c FRD006 Friedreich Ataxia 2 24
879 c CHR622 Charcot-Marie-Tooth Disease Type 2a2 22
880 MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 22
881 c MNT191 Mental Retardation, X-Linked, Syndromic 17 22
882 MNT320 Mental Retardation, Autosomal Dominant 6, with or Without Seizures 22
883 c NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 21
884 MNT283 Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly 19
885 ACT231 Acute Flaccid Myelitis 19
886 MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 19
887 FLL034 Fallot Complex with Severe Mental and Growth Retardation 19
888 NRD059 Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy 18
889 CNT029 Central Nervous System Endodermal Sinus Tumor 18
890 NRD042 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy 18
891 MCR333 Microcephaly, Seizures, Spasticity, and Brain Calcifications 18
892 c GLT029 Glutaric Acidemia Type Iii 17
893 NRD004 Neurodegeneration Due to Cerebral Folate Transport Deficiency 17
894 c PTT042 Pitt-Hopkins-Like Syndrome 17
895 c VSC054 Visceral Neuropathy, Familial, Autosomal Recessive 17
896 DPB002 Deep Brain Stimulation for Movement Disorders 16
897 MNT257 Mental Retardation, X-Linked, with Craniofacial Dysmorphism 16
898 ABD008 Abidi X-Linked Mental Retardation Syndrome 16
899 SCT004 Scott Bryant Graham Syndrome 16
900 CHL003 Childhood Spinal Cord Tumor 16
901 LRY013 Laryngeal Neuroendocrine Tumor 16
902 MTR078 Motor Neuropathy, Peripheral, with Dysautonomia 15
903 BNP001 Bone Peripheral Neuroepithelioma 15
904 ALP067 Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome 15
905 CRN293 Craniosynostosis-Mental Retardation-Clefting Syndrome 14
906 c PRV013 Periventricular Nodular Heterotopia 3 13
907 IDP022 Idiopathic Spinal Cord Herniation 13
908 c VSC056 Visceral Neuropathy, Familial, Autosomal Dominant 11
909 SPN007 Spinal Cord Oligodendroglioma 11
910 FCL002 Facial Nerve Neoplasm 11
911 XLN197 X-Linked Intellectual Disability-Plagiocephaly Syndrome 11
912 SYN081 Syndromic X-Linked Intellectual Disability Abidi Type 11
913 c ATS388 Autosomal Dominant Non-Syndromic Intellectual Disability 6 10
914 BRN025 Brainstem Intraparenchymal Clear Cell Meningioma 10
915 CNG458 Congenital Abducens Nerve Palsy 10
916 ANL010 Anal Neuroendocrine Tumor 9
917 SYN090 Syndromic X-Linked Intellectual Disability Turner Type 9
918 VGS002 Vagus Nerve Neoplasm 9
919 ADL021 Adult Brainstem Gliosarcoma 9
920 ADL035 Adult Spinal Cord Glioblastoma Multiforme 9
921 BLT005 Bilateral Meningioma of Optic Nerve 8
922 P MCR373 Mecr-Related Neurologic Disorder 7
923 TRC009 Trochlear Nerve Neoplasm 7
924 CRN032 Cranial Nerve Iii Tumor 7
925 PRM283 Primitive Neuroectodermal Tumor of the Corpus Uteri 7
926 ADL003 Adult Brainstem Mixed Glioma 7
927 MLG027 Malignant Oculomotor Nerve Tumor 7
928 CLS051 Classic Neuroendocrine Tumor of Appendix 7
929 HYP079 Hypoglossal Nerve Neoplasm 6
930 GLS002 Glossopharyngeal Nerve Neoplasm 6
931 ABD001 Abducens Nerve Neoplasm 6
932 SPN001 Spinal Accessory Nerve Neoplasm 6
933 CHL005 Childhood Mediastinal Neurogenic Tumor 6
934 ALZ051 Alzheimer Disease Without Neurofibrillary Tangles 6
935 c SCN040 Secondary Acute Transverse Myelitis 6
936 c KCN020 Kcnt1-Related Epilepsy 5
937 P BNG037 Benign Angiitis of the Central Nervous System 5
938 ARN002 Arnold Stickler Bourne Syndrome 5
939 VSC023 Vasculitis Syndromes of the Central and Peripheral Nervous Systems 5
940 NRL012 Neurological Manifestations of Pompe Disease 4
941 THM007 Thumb Stiff Brachydactyly Mental Retardation 4
942 c DPD002 Depdc5-Related Epilepsy 3
943 PST045 Post-Streptococcal Neurologic Disorders 3
944 CNT097 Central Hypoventilation Syndrome, Congenital 65
945 P ANG001 Angelman Syndrome 64
946 STF001 Stiff-Person Syndrome 64
947 P GLM040 Glioma Susceptibility 1 63
948 P LTR001 Lateral Sclerosis 60
949 TRG002 Trigeminal Neuralgia 60
950 c SPN294 Spinocerebellar Ataxia 1 59
951 BRN004 Brain Edema 59
952 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 53
953 SPN020 Spondylosis 52
954 PRR007 Perry Syndrome 51
955 P RSM001 Rasmussen Encephalitis 50
956 c MGL009 Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 48
957 OPT054 Opitz-Kaveggia Syndrome 48
958 P PRN026 Porencephaly 48
959 P OLV001 Olivopontocerebellar Atrophy 48
960 ENC055 Encephalopathy, Ethylmalonic 48
961 ACR012 Aicardi Syndrome 47
962 BRC010 Brachial Plexus Lesion 47
963 PNN005 Panencephalitis, Subacute Sclerosing 46
964 MNN028 Mononeuropathy of the Median Nerve, Mild 46
965 P LSS036 Lissencephaly, X-Linked, 1 44
966 OPT007 Optic Nerve Glioma 44
967 LTR003 Lateral Medullary Syndrome 43
968 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 42
969 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 39
970 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 39
971 NRM006 Neuromuscular Junction Disease 38
972 BRC011 Brachial Plexus Neuropathy 37
973 P SPS008 Spastic Ataxia 37
974 AMN007 Aminoacylase 1 Deficiency 37
975 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 37
976 P PRS124 Presynaptic Congenital Myasthenic Syndromes 36
977 KFM001 Kaufman Oculocerebrofacial Syndrome 36
978 SMT020 Smith-Kingsmore Syndrome 35
979 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 35
980 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 35
981 c GM1006 Gm1-Gangliosidosis, Type Iii 34
982 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 34
983 NRF016 Neurofibromatosis, Familial Spinal 33
984 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 33
985 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 33
986 NRT011 Neurotrophic Keratopathy 32
987 c FML084 Familial Porencephaly 31
988 PDN001 Pudendal Neuralgia 31
989 ULN001 Ulnar Neuropathy 31
990 MCR025 Microhydranencephaly 30
991 GRN004 Granulomatous Amebic Encephalitis 30
992 NRD037 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies 29
993 c MNT158 Mental Retardation, Autosomal Dominant 22 29
994 c SPS212 Spastic Ataxia 5, Autosomal Recessive 28
995 c MNT183 Mental Retardation, Autosomal Recessive 36 28
996 P CNT044 Central Nervous System Primitive Neuroectodermal Neoplasm 28
997 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 27
998 c MNT248 Mental Retardation, X-Linked 102 27
999 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 27
1000 3HY010 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency 27
1001 PRN008 Peroneal Nerve Paralysis 27
1002 P DST101 Distal Hereditary Motor Neuropathies 26
1003 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 26
1004 HRT037 Heart and Brain Malformation Syndrome 26
1005 c SPS208 Spastic Ataxia 4, Autosomal Recessive 26
1006 TNN015 Tonne-Kalscheuer Syndrome 26
1007 c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 26
1008 c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 26
1009 PRF003 Piriformis Syndrome 26
1010 SPR032 Superficial Siderosis of the Central Nervous System 26
1011 MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 25
1012 ANT066 Anterior Cutaneous Nerve Entrapment Syndrome 24
1013 c SPS136 Spastic Ataxia 3, Autosomal Recessive 24
1014 c RSM003 Rasmussen Subacute Encephalitis 23
1015 c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 22
1016 c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 22
1017 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 22
1018 CHR655 Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive 22
1019 NRD023 Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language 21
1020 ENC050 Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 21
1021 c SPS191 Spastic Ataxia 7, Autosomal Dominant 21
1022 ATN001 Autonomic Peripheral Neuropathy 21
1023 ENC059 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity 21
1024 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 20
1025 c GLM025 Glioma Susceptibility 2 20
1026 c GLM047 Glioma Susceptibility 3 20
1027 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 20
1028 c MYS081 Myasthenic Syndrome, Congenital, 24, Presynaptic 20
1029 BCK018 Bickerstaff Brainstem Encephalitis 19
1030 c MNT294 Mental Retardation, X-Linked 106 19
1031 c MNT218 Mental Retardation, X-Linked 99 19
1032 P ALP076 Alopecia-Mental Retardation Syndrome 1 19
1033 c MNT224 Mental Retardation, X-Linked 101 19
1034 c MNT223 Mental Retardation, X-Linked 100 18
1035 NRD049 Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or Without Seizures 17
1036 c GLM043 Glioma Susceptibility 9 17
1037 c MYS080 Myasthenic Syndrome, Congenital, 23, Presynaptic 16
1038 PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 16
1039 SPN004 Spinal Cord Lipoma 14
1040 NRD061 Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities 14
1041 c OLV005 Olivopontocerebellar Atrophy V 13
1042 c ACQ029 Acquired Porencephaly 13
1043 c OLV006 Olivopontocerebellar Atrophy Ii, Autosomal Recessive 12
1044 c SPS214 Spastic Ataxia 4 11
1045 c SPS171 Spastic Ataxia 5 11
1046 c ANG059 Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 11
1047 c SPS162 Spastic Ataxia 1 10
1048 c SPS163 Spastic Ataxia 3 10
1049 CHL017 Childhood Brain Meningioma 9
1050 c SPS170 Spastic Ataxia 2 9
1051 c ANG053 Angelman Syndrome Due to Maternal 15q11q13 Deletion 9
1052 c GLM022 Glioma Susceptibility 8 9
1053 c GLM019 Glioma Susceptibility 4 9
1054 c GLM021 Glioma Susceptibility 6 9
1055 c SPS172 Spastic Ataxia 7 8
1056 c SPS229 Spastic Ataxia 8 8
1057 c ANG052 Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 8
1058 c GLM038 Glioma Susceptibility 7 8
1059 c GLM020 Glioma Susceptibility 5 8
1060 c ENC068 Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect 7
1061 BRN023 Brain Stem Ependymoma 7
1062 c ANG058 Angelman Syndrome Due to a Point Mutation 6
1063 MDS014 Mediastinum Neuroblastoma 6
1064 MTR033 Motor Sensory Neuropathy Type 1 Aplasia Cutis Congenita 3
1065 ACR006 Aceruloplasminemia 73
1066 ART005 Arteriovenous Malformation 66
1067 P ENC018 Encephalopathy 65
1068 P NRP001 Neuropathy 63
1069 TRN015 Transient Cerebral Ischemia 59
1070 P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 59
1071 LNN001 Lennox-Gastaut Syndrome 59
1072 GLM004 Gliomatosis Cerebri 58
1073 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 55
1074 c LSS005 Lissencephaly 1 53
1075 GNG005 Gangliocytoma 52
1076 P AST007 Astrocytoma 52
1077 P SCH018 Schizencephaly 51
1078 P SYR001 Syringomyelia 51
1079 P BND018 Band Heterotopia 50
1080 CNT046 Central Nervous System Vasculitis 49
1081 c PRM092 Primary Lateral Sclerosis, Adult, 1 48
1082 HMM003 Hemimegalencephaly 48
1083 ENC010 Encephalocraniocutaneous Lipomatosis 47
1084 c MLG068 Malignant Glioma 47
1085 DFF037 Diffuse Intrinsic Pontine Glioma 47
1086 ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 46
1087 ATN004 Autonomic Neuropathy 46
1088 BRN032 Brain Glioma 45
1089 LCK001 Locked-in Syndrome 45
1090 MDL002 Medulloepithelioma 45
1091 BRN080 Brain Ischemia 43
1092 P HYP265 Hypotonia 43
1093 P MCR241 Microphthalmia, Syndromic 3 42
1094 ARC002 Arachnoiditis 41
1095 PLM039 Pulmonary Neuroendocrine Tumor 41
1096 ARC007 Arachnoid Cysts 39
1097 EST003 Eastern Equine Encephalitis 39
1098 CNT041 Central Nervous System Melanocytic Neoplasm 39
1099 c LKD009 Leukodystrophy, Hypomyelinating, 5 38
1100 c PSD106 Pseudo-Torch Syndrome 1 37
1101 BRN031 Brain Germinoma 37
1102 P ATN003 Autonomic Nervous System Neoplasm 37
1103 VST001 Vestibular Neuronitis 35
1104 MND023 Mend Syndrome 35
1105 P SCH017 Schindler Disease 35
1106 TMP011 Temple-Baraitser Syndrome 34
1107 PLY117 Polymicrogyria, Bilateral Frontoparietal 34
1108 GLS004 Glossopharyngeal Neuralgia 34
1109 TRG003 Trigeminal Nerve Disease 34
1110 c CHR670 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 34
1111 CHR543 Chromosome 2q37 Deletion Syndrome 34
1112 c SPN096 Spinocerebellar Ataxia 21 33
1113 BRN021 Brain Sarcoma 33
1114 c PNT044 Pontocerebellar Hypoplasia, Type 2a 33
1115 P HYP700 Hypomyelinating Leukodystrophy 32
1116 PLY158 Polyglucosan Body Neuropathy, Adult Form 31
1117 ADL060 Adult Polyglucosan Body Disease 30
1118 c MNT145 Mental Retardation, Autosomal Recessive 5 30
1119 CRB070 Cerebral Folate Deficiency 29
1120 CNT109 Central Nervous System Benign Neoplasm 29
1121 ZTT001 Zttk Syndrome 29
1122 c MNT328 Mental Retardation, Autosomal Dominant 52 28
1123 c MNT280 Mental Retardation, Autosomal Dominant 43 28
1124 c MNT213 Mental Retardation, Autosomal Recessive 40 27
1125 c MNT242 Mental Retardation, Autosomal Dominant 40 27
1126 c MNT166 Mental Retardation, Autosomal Recessive 39 27
1127 BRS005 Breast Neuroendocrine Neoplasm 27
1128 c MNT244 Mental Retardation, Autosomal Recessive 49 27
1129 c MNT176 Mental Retardation, Autosomal Recessive 38 26
1130 c MNT216 Mental Retardation, Autosomal Recessive 41 26
1131 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 26
1132 BRN008 Brain Compression 25
1133 BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 25
1134 c MNT177 Mental Retardation, Autosomal Recessive 27 25
1135 c MNT332 Mental Retardation, Autosomal Dominant 56 25
1136 OHD003 Ohdo Syndrome, X-Linked 25
1137 c MNT227 Mental Retardation, Autosomal Recessive 46 25
1138 c MNT221 Mental Retardation, Autosomal Recessive 44 24
1139 ALC002 Alcohol-Related Neurodevelopmental Disorder 24
1140 c MNT327 Mental Retardation, Autosomal Dominant 51 24
1141 c MNT323 Mental Retardation, Autosomal Dominant 48 24
1142 c MNT329 Mental Retardation, Autosomal Dominant 53 24
1143 NRD029 Neurodevelopmental Disorder with Involuntary Movements 23
1144 c MNT330 Mental Retardation, Autosomal Dominant 54 23
1145 c MNT286 Mental Retardation, Autosomal Dominant 45 23
1146 c MNT326 Mental Retardation, Autosomal Dominant 50 23
1147 c MNT234 Mental Retardation, Autosomal Recessive 48 23
1148 c MNT215 Mental Retardation, Autosomal Recessive 43 22
1149 P ENC046 Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy 22
1150 HYD065 Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies 22
1151 c MNT220 Mental Retardation, Autosomal Recessive 45 22
1152 c MNT225 Mental Retardation, Autosomal Recessive 47 22
1153 c MNT279 Mental Retardation, Autosomal Dominant 47 22
1154 c JVN001 Juvenile Astrocytoma 22
1155 P TRC034 Torch Syndrome 22
1156 AMM001 Amme Complex 22
1157 c MNT278 Mental Retardation, Autosomal Dominant 46 21
1158 c SCN048 Secondary Syringomyelia 21
1159 IRV001 Irvan Syndrome 21
1160 c MNT264 Mental Retardation, Autosomal Recessive 52 21
1161 c PNT052 Pontocerebellar Hypoplasia, Type 12 21
1162 c MNT243 Mental Retardation, Autosomal Recessive 50 20
1163 P HYP830 Hypomagnesemia, Seizures, and Mental Retardation 1 20
1164 NRD058 Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures 20
1165 LWS001 Lewis-Sumner Syndrome 20
1166 c CHR142 Charcot-Marie-Tooth Disease Type 2f 19
1167 c ACQ050 Acquired Schizencephaly 18
1168 LSN001 Lesion of Sciatic Nerve 18
1169 ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 18
1170 GZP006 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development 18
1171 NRD038 Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy 18
1172 BRN007 Brain Oligodendroglioma 17
1173 c ENC066 Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 2 17
1174 CRT087 Cortical Dysplasia, Complex, with Other Brain Malformations 9 16
1175 NRD060 Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 16
1176 c MNT195 Mental Retardation, X-Linked 96 16
1177 SCH001 Schwannoma of Twelfth Cranial Nerve 15
1178 LSS040 Lissencephaly 9 with Complex Brainstem Malformation 15
1179 MNT107 Mental Retardation, Fra12a Type 15
1180 FLP002 Floppy Infant Syndrome 14
1181 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 12
1182 NRP057 Neuropathy, Hereditary Sensory, Atypical 11
1183 INT090 Intellectual Deficit Buenos-Aires Type 11
1184 c PRM168 Primary Syringomyelia 11
1185 NRP058 Neuropathy, Hereditary Sensory, X-Linked 11
1186 c FML255 Familial Syringomyelia 10
1187 TLF001 Telfer Sugar Jaeger Syndrome 9
1188 CHL051 Childhood Brain Germinoma 9
1189 PPV001 Popov-Chang Syndrome 8
1190 CNT013 Central Nervous System Leiomyoma 8
1191 BRN020 Brain Stem Angioblastoma 8
1192 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 7
1193 SCR027 Sacral Nerve Root Cysts 7
1194 CLP007 Clpb Deficiency 7
1195 ALD006 Aldred Syndrome 6
1196 HRD105 Hereditary Sensorimotor Neuropathy with Hyperelastic Skin 5
1197 c FML049 Familial Band Heterotopia 4
1198 NRL011 Neurological Consequences of Cytomegalovirus Infection 3
1199 ANX010 Anxiety 73
1200 c TBR025 Tuberous Sclerosis 1 71
1201 P TBR001 Tuberous Sclerosis 69
1202 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 68
1203 c TBR026 Tuberous Sclerosis 2 66
1204 c MCP050 Mucopolysaccharidosis, Type Ii 66
1205 P CNG001 Congenital Myasthenic Syndrome 66
1206 P ENC004 Encephalitis 66
1207 NRL005 Neurilemmoma 65
1208 PRT058 Pure Autonomic Failure 65
1209 MNK001 Menkes Disease 64
1210 c MCP049 Mucopolysaccharidosis, Type Vii 64
1211 c MCP052 Mucopolysaccharidosis, Type Vi 61
1212 P SZR006 Seizure Disorder 61
1213 P MCP040 Mucopolysaccharidosis-Plus Syndrome 60
1214 TRD006 Tardive Dyskinesia 60
1215 c MCP004 Mucopolysaccharidosis Iv 59
1216 RRR001 Rere-Related Disorders 59
1217 P SYP003 Syphilis 58
1218 LMB002 Lambert-Eaton Myasthenic Syndrome 58
1219 GLY010 Glycine Encephalopathy 57
1220 HMN009 Hemangioblastoma 55
1221 P GLM045 Glioma 55
1222 P TRM003 Tremor 55
1223 P MCR010 Microcephaly 55
1224 MLL018 Miller-Dieker Lissencephaly Syndrome 54
1225 SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 53
1226 MYL020 Myelomeningocele 53
1227 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 53
1228 NRM004 Neuroma 52
1229 c MCP043 Mucopolysaccharidosis, Type Iiia 52
1230 c CHR283 Chronic Inflammatory Demyelinating Polyneuropathy 52
1231 HYD061 Hydrocephalus, Normal-Pressure 51
1232 c ACR116 Aicardi-Goutieres Syndrome 1 50
1233 SPN021 Spinal Meningioma 50
1234 c RBN021 Rubinstein-Taybi Syndrome 1 50
1235 P KRN004 Kernicterus 48
1236 NNT033 Neonatal Hypoxic and Ischemic Brain Injury 48
1237 P ENC008 Encephalocele 48
1238 CRB090 Cerebral Hypoxia 47
1239 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 46
1240 DBT002 Diabetic Autonomic Neuropathy 46
1241 c PRM022 Primary Syphilis 45
1242 c GM1005 Gm1-Gangliosidosis, Type Ii 45
1243 c LKD019 Leukodystrophy, Hypomyelinating, 6 45
1244 MNN017 Mononeuropathy 44
1245 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 44
1246 P HMF004 Hemifacial Spasm 43
1247 c SPN265 Spinocerebellar Ataxia 36 42
1248 CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 42
1249 STL001 St. Louis Encephalitis 42
1250 CRB148 Cerebral Creatine Deficiency Syndrome 3 41
1251 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 41
1252 c CNG031 Congenital Nervous System Abnormality 40
1253 c CNG033 Congenital Syphilis 40
1254 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 40
1255 c SCN006 Secondary Syphilis 39
1256 OHD004 Ohdo Syndrome 39
1257 c MCP051 Mucopolysaccharidosis, Type Ix 38
1258 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 38
1259 HYP264 Hypertonia 37
1260 c ACR088 Aicardi-Goutieres Syndrome 3 37
1261 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 37
1262 P XLN110 X-Linked Charcot-Marie-Tooth Disease 36
1263 EPD005 Epidural Abscess 35
1264 SPN018 Spinal Cord Astrocytoma 35
1265 NRX001 Neuroaxonal Dystrophy 35
1266 FMR004 Fumarase Deficiency 35
1267 c SCH069 Schindler Disease, Type I 34
1268 TRL002 Tarlov Cysts 34
1269 PRM205 Primary Hepatic Neuroendocrine Carcinoma 34
1270 PRN016 Peroneal Neuropathy 33
1271 INF129 Infantile Cerebellar-Retinal Degeneration 33
1272 FST001 Foster-Kennedy Syndrome 33
1273 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 33
1274 c CHR682 Chronic Bilirubin Encephalopathy 33
1275 NRG001 Neurogenic Bowel 33
1276 c LSS010 Lissencephaly 4 32
1277 EPT008 Epithelioid Malignant Peripheral Nerve Sheath Tumor 31
1278 c CHR135 Charcot-Marie-Tooth Disease Type 2a 31
1279 ISC001 Ischemic Neuropathy 31
1280 CKS001 Ck Syndrome 31
1281 c ACR081 Aicardi-Goutieres Syndrome 6 31
1282 FCL011 Facial Nerve Disease 30
1283 c MYS067 Myasthenic Syndrome, Congenital, 22 30
1284 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 30
1285 LKN024 Leukoencephalopathy, Brain Calcifications, and Cysts 30
1286 EMB015 Embryonal Tumor with Multilayered Rosettes 29
1287 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 29
1288 c SNS009 Sensory Neuropathy Type 1 29
1289 P ACT241 Acute Bilirubin Encephalopathy 29
1290 c TRM024 Tremor, Hereditary Essential, 1 28
1291 NRS001 Neuroschistosomiasis 28
1292 c LTC001 Late Congenital Syphilis 27
1293 c MLT009 Multiple Cranial Nerve Palsy 27
1294 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 26
1295 c BSL030 Basal Encephalocele 26
1296 c MYS056 Myasthenic Syndrome, Congenital, 17 25
1297 c FRN037 Frontal Encephalocele 25
1298 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 25
1299 HYD054 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 24
1300 TBL007 Tibial Neuropathy 24
1301 EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 24
1302 c MNT339 Mental Retardation, Autosomal Recessive 66 24
1303 c HMF011 Hemifacial Spasm, Familial 24
1304 c CHR678 Charcot-Marie-Tooth Disease, Axonal, Type 2dd 23
1305 ILL008 Ileal Neuroendocrine Tumor 22
1306 CRB198 Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome 22
1307 c ERL002 Early Congenital Syphilis 22
1308 RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 21
1309 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 21
1310 INT022 Intracranial Primitive Neuroectodermal Tumor 21
1311 ESP009 Esophageal Neuroendocrine Tumor 21
1312 MYC075 Myoclonus, Intractable, Neonatal 21
1313 HLL013 Hall-Riggs Mental Retardation Syndrome 20
1314 BLP010 Blepharophimosis Intellectual Disability Syndromes 20
1315 c CHR115 Charcot-Marie-Tooth Neuropathy Type 2a 20
1316 PLY113 Polyneuropathy Associated with Igm Monoclonal Gammapathy with Anti-Mag 20
1317 c TRM020 Tremor, Hereditary Essential, 2 20
1318 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 19
1319 P BRN140 Brain Small Vessel Disease 2 19
1320 BLP044 Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 19
1321 c GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 19
1322 SPN424 Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits 19
1323 OVR004 Ovary Neuroendocrine Neoplasm 19
1324 PRP102 Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development 19
1325 GMS002 Gms Syndrome 18
1326 c TRM022 Tremor, Hereditary Essential, 5 18
1327 PRS131 Prostate Cancer/brain Cancer Susceptibility 18
1328 c TRM017 Tremor, Hereditary Essential, 4 18
1329 YLK002 Yolk Sac Tumor of Central Nervous System 18
1330 ULN002 Ulnar Nerve Lesion 17
1331 P NNP004 Nonphotosensitive Trichothiodystrophy 17
1332 LMB066 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 17
1333 PBL004 Piebald Trait with Neurologic Defects 17
1334 NRN045 Neuroendocrine Neoplasm of Appendix 16
1335 MNN005 Meningovascular Neurosyphilis 16
1336 WLF012 Wolff Mental Retardation Syndrome 16
1337 ERL033 Early-Onset Parkinsonism-Intellectual Disability Syndrome 16
1338 BRN027 Brain Angioma 16
1339 SPN025 Spinal Cord Melanoma 16
1340 PTR031 Pterygium Colli and Mental Retardation with Facial and Digital Anomalies 16
1341 ULN022 Ulnar Hypoplasia with Mental Retardation 15
1342 NRP047 Neuropathy, Hereditary Thermosensitive 15
1343 CNG457 Congenital Oculomotor Nerve Palsy 15
1344 P MNT312 Mental Health Wellness 1 15
1345 VSC048 Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome 15
1346 NRP006 Neuropathy, Congenital, with Arthrogryposis Multiplex 15
1347 RDL026 Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome 15
1348 SPN347 Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 14
1349 KFF001 Kifafa Seizure Disorder 14
1350 NRC007 Neuroectodermal Endocrine Syndrome 14
1351 SCH022 Schimke X-Linked Mental Retardation Syndrome 14
1352 EFV001 Efavirenz, Poor Metabolism of 14
1353 HYP687 Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy 14
1354 c CHR120 Charcot-Marie-Tooth Neuropathy X Type 1 14
1355 OCL024 Ocular Neuromyotonia 14
1356 SPS218 Spastic Diplegia and Mental Retardation 14
1357 c SBC037 Subacute Inflammatory Demyelinating Polyneuropathy 13
1358 c ATS261 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 13
1359 SPR039 Supratentorial Primitive Neuroectodermal Tumors, Childhood 13
1360 PRS017 Prostate Neuroendocrine Neoplasm 12
1361 CNG362 Congenital Trochlear Nerve Palsy 12
1362 SPN024 Spinal Cord Sarcoma 12
1363 c SZR011 Seizures, Benign Familial Infantile, 4 12
1364 HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 12
1365 NRH002 Neurohypophysis Granular Cell Tumor 12
1366 INT288 Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome 11
1367 c TRM016 Tremor, Hereditary Essential, 3 11
1368 CLN014 Colon Neuroendocrine Neoplasm 11
1369 c NRB012 Neuroblastoma 5 11
1370 MNT311 Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration 11
1371 P FTL014 Fetal Brain Disruption Sequence 11
1372 OST048 Osteopetrosis and Infantile Neuroaxonal Dystrophy 11
1373 P NRP005 Neuropathy Sensory Spastic Paraplegia 10
1374 SPN002 Spinal Cord Intramedullary Teratoma 10
1375 CRB010 Cerebellopontine Angle Primitive Neuroectodermal 10
1376 ULN019 Ulna Hypoplasia-Intellectual Disability Syndrome 10
1377 NRF005 Neurofibroma of Gallbladder 10
1378 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 10
1379 c NRB013 Neuroblastoma 6 10
1380 KCN019 Kcnk9 Imprinting Syndrome 10
1381 c NRB016 Neuroblastoma 7 10
1382 c NRB011 Neuroblastoma 4 10
1383 CNT023 Central Nervous System Hemangioma 9
1384 c ATS389 Autosomal Dominant Non-Syndromic Intellectual Disability 8 9
1385 c DNM001 Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy 9
1386 PRP096 Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 9
1387 P RBN007 Rubinstein Taybi Like Syndrome 9
1388 ATM073 Autoimmune-Related Retinopathy and Optic Neuropathy 9
1389 SYN093 Syndromic X-Linked Intellectual Disability Raymond Type 9
1390 SFT001 Soft Tissue Peripheral Neuroepithelioma 9
1391 TRN026 Tranebjaerg Svejgaard Syndrome 8
1392 CLL024 Colloid Cysts of Third Ventricle 8
1393 c SCN009 Scn1a-Related Seizure Disorders 8
1394 MLG125 Malignant Mediastinal Neurogenic Neoplasm 8
1395 NRF001 Neurofibroma of Spinal Cord 8
1396 SNL005 Senile Degeneration of Brain 7
1397 MLG057 Malignant Cardiac Peripheral Nerve Sheath Neoplasm 7
1398 c ADL036 Adult Central Nervous System Germinoma 7
1399 c KRN003 Kernicterus Due to Isoimmunization 7
1400 c GDP003 Gdap1-Related Hereditary Motor and Sensory Neuropathy 7
1401 c SVR017 Severe Infantile Axonal Neuropathy 7
1402 c INF044 Infantile Axonal Neuropathy 7
1403 NRF006 Neurofibroma of the Heart 7
1404 c MNT313 Mental Health Wellness 2 7
1405 HRD181 Hereditary Neuroendocrine Tumor of Small Intestine 7
1406 P ADL055 Adult Central Nervous System Teratoma 7
1407 NRN043 Neuroendocrine Neoplasm of Esophagus 7
1408 NRV001 Nerve Root Neoplasm 6
1409 INF155 Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome 6
1410 ADL004 Adult Brainstem Astrocytoma 6
1411 CRV019 Cervical Spinal Canal and Spinal Cord Meningioma 6
1412 CTS013 Cutis Verticis Gyrata Mental Deficiency 6
1413 MLG015 Malignant Melanocytic Peripheral Nerve Sheath Tumor of Mediastinum 6
1414 SCR007 Sacral Spinal Canal and Spinal Cord Meningioma 6
1415 c MLT014 Multiple Spinal Canal and Spinal Cord Meningioma 6
1416 THR008 Thoracic Spinal Canal and Spinal Cord Meningioma 6
1417 CHL053 Childhood Brainstem Astrocytoma 6
1418 PLN002 Plantar Nerve Lesion 6
1419 LMB007 Lumbar Spinal Canal and Spinal Cord Meningioma 6
1420 GRN054 Grin1-Associated Disorders 6
1421 NSL005 Nasal Cavity Olfactory Neuroblastoma 6
1422 INT252 Intestinal Neuroendocrine Benign Tumor 6
1423 AKS001 Akesson Syndrome 6
1424 MDS007 Mediastinum Neurofibroma 5
1425 SCM002 Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 5
1426 PTR009 Pterygium Colli Mental Retardation Digital Anomalies 5
1427 PRG135 Progressive Dementia with Neuroserpin Inclusion Bodies 4
1428 PRG136 Progressive Myoclonic Epilepsy with Neuroserpin Inclusion Bodies 4
1429 HYP234 Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 4
1430 DFN009 Deafness Hyperuricemia Neurologic Ataxia 4
1431 NRV003 Nervous System Hibernoma 4
1432 CRN091 Craniosynostosis Alopecia Brain Defect 3
1433 PRT057 Proteus Like Syndrome Mental Retardation Eye Defect 3
1434 CNG099 Congenital Heart Disease Radio Ulnar Synostosis Mental Retardation 3
1435 OST060 Osteosclerosis Abnormalities of Nervous System and Meninges 3
1436 CRN100 Craniosynostosis Mental Retardation Heart Defects 3
1437 CRN064 Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation 2
1438 SZR004 Seizures Mental Retardation Hair Dysplasia 2
1439 DFN033 Deafness, Neurosensory Nonsyndromic Recessive, Dfn 2
1440 DFN018 Deafness Peripheral Neuropathy Arterial Disease 2
1441 DFN012 Deafness Mesenteric Diverticula of Small Bowel Neuropathy 2
1442 EPL007 Epilepsy Mental Deterioration Finnish Type 2
1443 RTN074 Retinopathy Aplastic Anemia Neurological Abnormalities 2
1444 SPN084 Spinal Bulbar Motor Neuropathy 2
1445 FCL024 Focal or Multifocal Malformations in Neuronal Migration 2
1446 SPS043 Spastic Paraplegia and Distal Muscle Wasting Caused by Neuropathy Target Esterase Gene Mutation 2
1447 HRD059 Hereditary Peripheral Nervous Disorder 2
1448 CHR279 Chronic Demyelinizing Neuropathy with Igm Monoclonal 2
1449 P ATX030 Ataxia-Telangiectasia 82
1450 P PRK057 Parkinson Disease, Late-Onset 76
1451 MVM001 Movement Disease 67
1452 P ATT013 Attention Deficit-Hyperactivity Disorder 66
1453 P CRB048 Cerebral Cavernous Malformations 63
1454 PST028 Post-Traumatic Stress Disorder 63
1455 c MNN047 Mannosidosis, Alpha B, Lysosomal 63
1456 HMR039 Hemorrhage, Intracerebral 62
1457 MYC079 Myoclonic Epilepsy of Lafora 61
1458 SLP005 Sleep Disorder 60
1459 APH002 Aphasia 59
1460 P SPN301 Spinocerebellar Ataxia 2 59
1461 P NRC002 Narcolepsy 59
1462 CRT033 Corticobasal Degeneration 58
1463 P PLC011 Pilocytic Astrocytoma 56
1464 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 56
1465 c CHR320 Chiari Malformation Type I 55
1466 MTC027 Mitochondrial Trifunctional Protein Deficiency 55
1467 RDC002 Radiculopathy 55
1468 c CRB191 Cerebral Cavernous Malformations 2 54
1469 APR001 Apraxia 53
1470 CRB027 Cerebellar Disease 53
1471 c SPN291 Spinocerebellar Ataxia 7 53
1472 LPD009 Lipid Storage Disease 52
1473 MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 52
1474 ARM002 Aromatic L-Amino Acid Decarboxylase Deficiency 52
1475 TMT001 Timothy Syndrome 52
1476 OPS006 Opsoclonus-Myoclonus Syndrome 52
1477 P MNN019 Mannosidosis, Beta a, Lysosomal 52
1478 c SPN314 Spinocerebellar Ataxia 10 51
1479 HRP009 Herpes Simplex Encephalitis 50
1480 P MGL013 Megalencephaly 50
1481 P CRB101 Cerebrooculofacioskeletal Syndrome 1 50
1482 OCL069 Ocular Motor Apraxia 49
1483 CHR222 Chromosome 1p36 Deletion Syndrome 49
1484 CRB045 Cerebellar Hypoplasia 49
1485 WRN003 Wernicke Encephalopathy 49
1486 c NRC009 Narcolepsy 1 49
1487 c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 48
1488 PST048 Postural Orthostatic Tachycardia Syndrome 48
1489 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 48
1490 PRP056 Porphyria, Acute Hepatic 47
1491 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 46
1492 c JVN009 Juvenile Pilocytic Astrocytoma 46
1493 c SPN097 Spinocerebellar Ataxia 23 45
1494 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 45
1495 CRP032 Corpus Callosum, Agenesis of 45
1496 NCL006 Nicolaides-Baraitser Syndrome 44
1497 P SMP003 Simpson-Golabi-Behmel Syndrome 44
1498 LCR004 La Crosse Encephalitis 44
1499 c PNT034 Pontocerebellar Hypoplasia, Type 2e 43
1500 P PNT019 Pontocerebellar Hypoplasia 43
1501 c SPN305 Spinocerebellar Ataxia 11 42
1502 DND001 Dandy-Walker Syndrome 42
1503 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 41
1504 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 41
1505 c ERL056 Early-Onset Parkinson's Disease 41
1506 MTH074 Methionine Adenosyltransferase I/iii Deficiency 39
1507 c PRK025 Parkinson Disease 10 39
1508 c PRK090 Parkinson Disease 3, Autosomal Dominant 38
1509 P 2HY001 2-Hydroxyglutaric Aciduria 38
1510 c CRB094 Cerebral Cavernous Malformations 3 37
1511 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 37
1512 P CTR177 Citrullinemia, Type Ii, Adult-Onset 37
1513 c BSL038 Basal Ganglia Calcification, Idiopathic, 1 36
1514 P CNT036 Central Nervous System Germ Cell Tumor 36
1515 c NRC010 Narcolepsy 2 36
1516 GLC024 Glucose Transporter Type 1 Deficiency Syndrome 36
1517 c ACR092 Aicardi-Goutieres Syndrome 5 36
1518 BRW004 Brown-Sequard Syndrome 36
1519 PLY161 Polymicrogyria, Bilateral Perisylvian, X-Linked 35
1520 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
1521 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 35
1522 LTR009 Lateral Meningocele Syndrome 35
1523 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 35
1524 GRS001 Gerstmann Syndrome 35
1525 ART110 Arteritic Anterior Ischemic Optic Neuropathy 35
1526 ASP024 Asparagine Synthetase Deficiency 34
1527 c HRD173 Hereditary Late-Onset Parkinson Disease 33
1528 c SPS039 Spastic Paraplegia 5a 33
1529 c PRK093 Parkinson Disease 8, Autosomal Dominant 33
1530 c ACR091 Aicardi-Goutieres Syndrome 4 33
1531 P SCH077 Schwannomatosis 1 33
1532 c ACR090 Aicardi-Goutieres Syndrome 2 32
1533 ACR025 Acrocephalopolydactylous Dysplasia 32
1534 MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 32
1535 NRN002 Neuronitis 32
1536 c HYP716 Hypermanganesemia with Dystonia 1 32
1537 PHC004 Phace Syndrome 31
1538 c PRK071 Parkinson Disease 14, Autosomal Recessive 31
1539 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 31
1540 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 31
1541 TMT002 Temtamy Preaxial Brachydactyly Syndrome 30
1542 PRG007 Progressive Bulbar Palsy 30
1543 ALC011 Alcoholic Neuropathy 30
1544 BLB005 Beaulieu-Boycott-Innes Syndrome 29
1545 LGH003 Leigh Syndrome, French Canadian Type 29
1546 BRN034 Brain Meningioma 29
1547 P SPS225 Spastic Paralysis, Infantile-Onset Ascending 29
1548 c CRB098 Cerebrooculofacioskeletal Syndrome 2 28
1549 c INF041 Infantile-Onset Ascending Hereditary Spastic Paralysis 28
1550 PNT009 Pontine Tegmental Cap Dysplasia 28
1551 P TTH021 Tethered Cord Syndrome 27
1552 P HYP723 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 27
1553 RDL004 Radial Neuropathy 27
1554 FZL002 Fazio-Londe Disease 26
1555 PPL060 Papillary Glioneuronal Tumors 26
1556 c PRK091 Parkinson Disease 4, Autosomal Dominant 26
1557 c PRK081 Parkinson Disease 19a, Juvenile-Onset 26
1558 GLT011 Glutamine Deficiency, Congenital 26
1559 c MNT334 Mental Retardation, Autosomal Dominant 57 25
1560 c SPN420 Spinocerebellar Ataxia 46 25
1561 c LKD030 Leukodystrophy, Hypomyelinating, 17 25
1562 BTN005 Biotin-Thiamine-Responsive Basal Ganglia Disease 24
1563 WTS001 Watson Syndrome 24
1564 c LKD021 Leukodystrophy, Hypomyelinating, 11 24
1565 c SPN427 Spinocerebellar Ataxia 48 24
1566 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 24
1567 c PRK008 Parkinson Disease Type 9 23
1568 c JVN058 Juvenile-Onset Parkinson's Disease 23
1569 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 22
1570 MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 22
1571 MLL006 Mollaret Meningitis 22
1572 HRL006 Harel-Yoon Syndrome 22
1573 c MNT275 Mental Retardation, Autosomal Recessive 60 21
1574 OKR001 Okur-Chung Neurodevelopmental Syndrome 21
1575 c MNT267 Mental Retardation, X-Linked 104 21
1576 ACT181 Acute Motor Axonal Neuropathy 21
1577 2Q3001 2q37 Deletion Syndrome 21
1578 FXL001 Foix-Alajouanine Syndrome 20
1579 P HYP821 Hypermanganesemia with Dystonia 20
1580 c SCH088 Schwannomatosis 2 19
1581 P BSL046 Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive 19
1582 FGS004 Fg Syndrome 4 19
1583 c PRK098 Parkinson Disease 5, Autosomal Dominant 19
1584 c PRK022 Parkinson Disease 12 19
1585 c MNT289 Mental Retardation, X-Linked 103 19
1586 c PRK058 Parkinson Disease 16 18
1587 c NRC017 Narcolepsy 7 18
1588 c LRR001 Lrrk2-Related Parkinson Disease 18
1589 NRD046 Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities 18
1590 c SPN432 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3 18
1591 NRD044 Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features 17
1592 NRD027 Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset 17
1593 CRV067 Cervical Neuroblastoma 17
1594 ATS309 Autosomal Dominant Leukodystrophy with Autonomic Disease 17
1595 c MNT333 Mental Retardation, X-Linked 107 17
1596 OSL002 O'sullivan-Mcleod Syndrome 16
1597 ADN078 Adnp Syndrome 16
1598 CLP002 Colpocephaly 16
1599 c NRC011 Narcolepsy 3 16
1600 INT311 Intellectual Developmental Disorder with Neuropsychiatric Features 16
1601 MNT306 Mental Retardation, X-Linked, Syndromic, Houge Type 16
1602 c MNT274 Mental Retardation, X-Linked 105 16
1603 c BSL031 Basal Ganglia Calcification, Idiopathic, 2 15
1604 MCR370 Macrocephaly, Acquired, with Impaired Intellectual Development 15
1605 ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 15
1606 SBN004 Sabinas Brittle Hair Syndrome 15
1607 CHL046 Childhood Central Nervous System Mixed Germ Cell Tumor 15
1608 c ATT020 Attention Deficit-Hyperactivity Disorder 2 14
1609 CHR554 Chromosome 17q11.2 Deletion Syndrome 13
1610 c NRC012 Narcolepsy 4 12
1611 c BRN141 Brain Small Vessel Disease 3 12
1612 c MGL035 Megalencephaly, Autosomal Dominant 12
1613 KLM001 Klumpke Paralysis 12
1614 SQL002 Squalene Synthase Deficiency 12
1615 c NRC013 Narcolepsy 5 12
1616 c CSK002 Cask-Related Intellectual Disability 11
1617 c NRC018 Narcolepsy 6 11
1618 PRS125 Pura Syndrome 11
1619 c ATT021 Attention Deficit-Hyperactivity Disorder 3 10
1620 c ATT022 Attention Deficit-Hyperactivity Disorder 4 10
1621 c ATT019 Attention Deficit-Hyperactivity Disorder 1 10
1622 c HVP001 Hivep2-Related Intellectual Disability 9
1623 c ADL083 Adult-Onset Citrullinemia Type I 9
1624 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 8
1625 c ATS360 Autosomal Recessive Intellectual Disability 58 7
1626 c ATS410 Autosomal Dominant Intellectual Disability 49 7
1627 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 7
1628 c ADL029 Adult Central Nervous System Mixed Germ Cell Tumor 7
1629 c VPS003 Vps35-Related Parkinson Disease 6
1630 ATS241 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 with Giant Axons 6
1631 c ATS403 Autosomal Dominant Intellectual Disability 40 6
1632 c SN3001 Sin3a-Related Intellectual Disability Syndrome 6
1633 c ATS348 Autosomal Dominant Intellectual Disability 30 6
1634 c TRR002 Trio-Related Intellectual Disability 5
1635 c WCR002 Wac-Related Intellectual Disability 5
1636 c WDR002 Wdr26-Related Intellectual Disability 5
1637 c ARX002 Arx-Related Intellectual Disability 4
1638 c ACS002 Acsl4-Related Intellectual Disability 4
1639 c DDX001 Ddx3x-Related Intellectual Disability 4
1640 GLB002 Glioblastoma 74
1641 P HYD006 Hydrocephalus 67
1642 CHD001 Chediak-Higashi Syndrome 67
1643 P CRN037 Craniosynostosis 66
1644 ETN001 Eating Disorder 65
1645 P CCK001 Cockayne Syndrome 65
1646 P MYP004 Myopathy 64
1647 CLF027 Cleft Palate, Isolated 64
1648 c MCP001 Mucopolysaccharidosis Iii 63
1649 CMP010 Complex Regional Pain Syndrome 63
1650 RBS001 Rabies 62
1651 P EPN002 Ependymoma 62
1652 P MTR004 Maturity-Onset Diabetes of the Young 61
1653 P CRG003 Crigler-Najjar Syndrome, Type I 61
1654 GRD007 Grade Iii Astrocytoma 61
1655 NRM019 Neuraminidase Deficiency 60
1656 P RST001 Restless Legs Syndrome 59
1657 P CTR002 Cataract 59
1658 c CNG216 Congenital Hydrocephalus 57
1659 P PLY019 Polyneuropathy 57
1660 ASP003 Aseptic Meningitis 56
1661 SMT006 Somatoform Disorder 55
1662 CVR006 Cavernous Hemangioma 55
1663 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 54
1664 c CRG004 Crigler-Najjar Syndrome, Type Ii 54
1665 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 54
1666 c BNG030 Benign Ependymoma 53
1667 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 53
1668 LRN003 Learning Disability 53
1669 c MYP132 Myopathy, Congenital 52
1670 HDN002 Head Injury 52
1671 P SLL003 Salla Disease 52
1672 PTS001 Patau Syndrome 52
1673 P ALT001 Alternating Hemiplegia of Childhood 51
1674 c CCK008 Cockayne Syndrome a 51
1675 HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 49
1676 c PNC128 Pain - Chronic 49
1677 P ERL057 Early Infantile Epileptic Encephalopathy 49
1678 c CNG191 Congenital Disorder of Glycosylation, Type Iia 49
1679 c SPN296 Spinocerebellar Ataxia 17 48
1680 P D2H002 D-2-Hydroxyglutaric Aciduria 1 48
1681 DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 47
1682 P MYC033 Myoclonus 47
1683 c LKD015 Leukodystrophy, Hypomyelinating, 3 47
1684 GLD006 Goldberg-Shprintzen Syndrome 47
1685 LRN001 Laurence-Moon Syndrome 46
1686 ADP001 Adiposis Dolorosa 46
1687 MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 46
1688 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 45
1689 IND012 Indifference to Pain, Congenital, Autosomal Recessive 45
1690 DPM001 Dopamine Beta-Hydroxylase Deficiency 45
1691 P DYS021 Dysautonomia 45
1692 PRS063 Paresthesia 45
1693 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 45
1694 c MLG064 Malignant Ependymoma 45
1695 MLK003 Melkersson-Rosenthal Syndrome 44
1696 c MCP047 Mucopolysaccharidosis, Type Iva 44
1697 c CRN278 Craniosynostosis 1 44
1698 c MCP044 Mucopolysaccharidosis, Type Iiib 44
1699 PLY024 Polymicrogyria 43
1700 c JBR024 Joubert Syndrome 14 43
1701 c SPN290 Spinocerebellar Ataxia 15 43
1702 LRG014 Large Cell Neuroendocrine Carcinoma 43
1703 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 42
1704 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 42
1705 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 42
1706 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 42
1707 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 42
1708 c CNG389 Congenital Disorder of Glycosylation, Type Iim 41
1709 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 41
1710 c SPN283 Spinocerebellar Ataxia 37 41
1711 c CTR130 Cataract 9, Multiple Types 41
1712 c SPN304 Spinocerebellar Ataxia 8 41
1713 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 41
1714 c CTR098 Cataract 1, Multiple Types 41
1715 MRT007 Martsolf Syndrome 41
1716 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 41
1717 MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 40
1718 ADN022 Adenylosuccinase Deficiency 40
1719 PYR037 Pyruvate Carboxylase Deficiency 40
1720 DPR002 Depersonalization Disorder 40
1721 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 40
1722 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 40
1723 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 39
1724 c PNT018 Pontocerebellar Hypoplasia, Type 1b 39
1725 WST004 West Nile Encephalitis 39
1726 GLT019 Glut1 Deficiency Syndrome 2 39
1727 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 39
1728 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 39
1729 P CRB088 Cerebral Atrophy 39
1730 c ATM007 Autoimmune Disease of Central Nervous System 38
1731 P STR001 Striatonigral Degeneration 38
1732 MTC023 Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 38
1733 DND005 Dandy-Walker Complex 37
1734 c CTR103 Cataract 4, Multiple Types 37
1735 CRB196 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 37
1736 SWL001 Swallowing Disorders 36
1737 c PTT029 Pitt-Hopkins-Like Syndrome 1 36
1738 c CTR118 Cataract 14, Multiple Types 36
1739 FTD001 Foot Drop 36
1740 c CTR170 Cataract 30, Multiple Types 36
1741 LND001 Landau-Kleffner Syndrome 36
1742 c CTR115 Cataract 16, Multiple Types 35
1743 c CTR141 Cataract 21, Multiple Types 35
1744 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 35
1745 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 35
1746 MRK002 Marek Disease 35
1747 INT003 Intracranial Hypotension 35
1748 c CTR122 Cataract 5, Multiple Types 35
1749 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 35
1750 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 35
1751 P HYP111 Hyperprolinemia 35
1752 c JBR025 Joubert Syndrome 17 35
1753 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 34
1754 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 34
1755 MST006 Mast Syndrome 34
1756 c MYS075 Myasthenic Syndrome, Congenital, 13 34
1757 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 33
1758 c CTR125 Cataract 7 33
1759 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 33
1760 c ORT011 Orthostatic Hypotension 1 33
1761 PST036 Posterior Column Ataxia with Retinitis Pigmentosa 33
1762 P NRN029 Neuronal Intestinal Dysplasia 33
1763 c CTR145 Cataract 44 33
1764 c ORT012 Orthostatic Hypotension 2 33
1765 c CTR102 Cataract 2, Multiple Types 33
1766 c CTR096 Cataract 6, Multiple Types 33
1767 c JBR012 Joubert Syndrome 5 32
1768 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 32
1769 c CTR132 Cataract 3, Multiple Types 32
1770 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 32
1771 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 32
1772 c JBR022 Joubert Syndrome 20 32
1773 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 32
1774 c CCK002 Cockayne Syndrome Type I 31
1775 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 31
1776 c SPN284 Spinocerebellar Ataxia 38 31
1777 c CTR158 Cataract 37 31
1778 c LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 31
1779 c CRN277 Craniosynostosis 2 31
1780 c CTR129 Cataract 31, Multiple Types 30
1781 c CTR095 Cataract 8, Multiple Types 30
1782 c PNT032 Pontocerebellar Hypoplasia, Type 9 30
1783 c ATS270 Autosomal Dominant Café Au Lait Spots 30
1784 c CTR174 Cataract 40 30
1785 c PNT035 Pontocerebellar Hypoplasia, Type 1c 30
1786 P SPN202 Spinocerebellar Ataxia, X-Linked 1 30
1787 c JBR014 Joubert Syndrome 9 29
1788 c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 29
1789 c HYP248 Hyperprolinemia, Type I 29
1790 c CRN281 Craniosynostosis 7 29
1791 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 29
1792 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 28
1793 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 28
1794 c SPS025 Spastic Paraplegia 15 28
1795 CNT017 Central Nervous System Origin Vertigo 28
1796 P STR092 Striatal Degeneration, Autosomal Dominant 2 28
1797 c CTR113 Cataract 11, Multiple Types 28
1798 c CTR175 Cataract 24 27
1799 c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 27
1800 STB002 Satb2-Associated Syndrome 27
1801 c JBR016 Joubert Syndrome 10 27
1802 BYL001 Baylisascariasis 27
1803 GNC005 Geniculate Ganglionitis 27
1804 c PNT047 Pontocerebellar Hypoplasia, Type 2b 27
1805 c RST012 Restless Legs Syndrome 1 27
1806 c CRN217 Craniosynostosis 3 26
1807 c MNT287 Mental Retardation, Autosomal Recessive 57 26
1808 MNN002 Mononeuritis Multiplex 26
1809 P MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 26
1810 c JBR013 Joubert Syndrome 8 26
1811 c JBR018 Joubert Syndrome 4 26
1812 RCH010 Richieri-Costa/guion-Almeida Syndrome 26
1813 P ENC054 Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations 26
1814 CNT042 Central Nervous System Mesenchymal Non-Meningothelial Tumor 26
1815 c JBR011 Joubert Syndrome 7 26
1816 c CHR094 Chronic Polyneuropathy 26
1817 CMB002 Combat Disorder 26
1818 c CCK004 Cockayne Syndrome Type Iii 25
1819 P PRM227 Primary Orthostatic Hypotension 25
1820 c MNT282 Mental Retardation, Autosomal Recessive 55 25
1821 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
1822 MNS002 Mini Stroke 25
1823 c LKD016 Leukodystrophy, Hypomyelinating, 9 25
1824 c MYS074 Myasthenic Syndrome, Congenital, 12 25
1825 MCR064 Microcephaly, Seizures, and Developmental Delay 25
1826 c JBR042 Joubert Syndrome 23 25
1827 c ATM105 Autoimmune Disease of Peripheral Nervous System 25
1828 c CTR169 Cataract 29 25
1829 c CTR166 Cataract 33, Multiple Types 25
1830 c CTR116 Cataract 15, Multiple Types 25
1831 c JBR030 Joubert Syndrome 22 25
1832 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 25
1833 c JBR037 Joubert Syndrome 26 25
1834 ART103 Arthrogryposis, Mental Retardation, and Seizures 25
1835 c MNT337 Mental Retardation, Autosomal Dominant 58 24
1836 c ATN017 Autonomic Nervous System Benign Neoplasm 24
1837 c CTR131 Cataract 17, Multiple Types 24
1838 c CTR181 Cataract 18 24
1839 ACL002 Acalvaria 24
1840 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 24
1841 SFR001 Sifrim-Hitz-Weiss Syndrome 24
1842 c MNT285 Mental Retardation, Autosomal Recessive 58 24
1843 c CTR162 Cataract 47 24
1844 c PNT048 Pontocerebellar Hypoplasia, Type 2c 23
1845 CLF050 Cleft Palate, Cardiac Defects, and Mental Retardation 23
1846 RTR023 Retroperitoneal Neuroblastoma 23
1847 c CTR124 Cataract 10, Multiple Types 23
1848 c CRN221 Craniosynostosis 4 23
1849 LKN017 Leukoencephalopathy with Ataxia 23
1850 JWD001 Jawad Syndrome 23
1851 c JBR039 Joubert Syndrome 28 23
1852 ATM074 Autoimmune Autonomic Ganglionopathy 23
1853 MD2001 Med23 23
1854 c MNT338 Mental Retardation, Autosomal Recessive 65 23
1855 c CTR180 Cataract 22, Multiple Types 23
1856 BRN134 Brain Malformations with or Without Urinary Tract Defects 23
1857 c CTR165 Cataract 19, Multiple Types 23
1858 c CTR119 Cataract 32, Multiple Types 23
1859 c LSS035 Lissencephaly 8 23
1860 IMM146 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 23
1861 c PRK102 Parkinsonism-Dystonia, Infantile, 2 23
1862 c CTR105 Cataract 12, Multiple Types 23
1863 c JBR021 Joubert Syndrome 18 23
1864 c BSL035 Basal Ganglia Calcification, Idiopathic, 5 23
1865 c STR101 Striatal Degeneration, Autosomal Dominant 1 22
1866 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 22
1867 c SPS037 Spastic Paraplegia 31 22
1868 c MNT336 Mental Retardation, Autosomal Recessive 64 22
1869 c SPN364 Spinocerebellar Ataxia, X-Linked 3 22
1870 NRD036 Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures 22
1871 c CTR184 Cataract 39, Multiple Types 22
1872 c JBR047 Joubert Syndrome 35 22
1873 c JBR040 Joubert Syndrome 30 22
1874 c PRV018 Periventricular Nodular Heterotopia 7 22
1875 CRB089 Cerebral Beriberi 22
1876 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 22
1877 CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 22
1878 SPS209 Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy 22
1879 c CRN256 Craniosynostosis 6 22
1880 AMY018 Amyotonia Congenita 22
1881 c ATM089 Autoimmune Neuropathy 22
1882 c ALT007 Alternating Hemiplegia of Childhood 2 22
1883 CRN104 Craniotelencephalic Dysplasia 22
1884 c CHR683 Charcot-Marie-Tooth Disease, Axonal, Type 2ee 22
1885 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 22
1886 c JBR028 Joubert Syndrome 13 22
1887 c MNT263 Mental Retardation, Autosomal Recessive 51 21
1888 c CTR097 Cataract 34, Multiple Types 21
1889 c BSL039 Basal Ganglia Calcification, Idiopathic, 6 21
1890 c CTR182 Cataract 23, Multiple Types 21
1891 MCR305 Microcephaly with Cervical Spine Fusion Anomalies 21
1892 c MCR255 Microcephaly 9, Primary, Autosomal Recessive 21
1893 c ALT008 Alternating Hemiplegia of Childhood 1 21
1894 MNT118 Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 21
1895 c JBR036 Joubert Syndrome 25 21
1896 c MNT197 Mental Retardation, X-Linked, Syndromic 9 21
1897 c MNT335 Mental Retardation, Autosomal Recessive 63 21
1898 c CTR111 Cataract 36 21
1899 c CTR136 Cataract 41 21
1900 c JBR044 Joubert Syndrome 31 21
1901 NRD053 Neurodevelopmental Disorder with Spasticity and Poor Growth 20
1902 c MNT277 Mental Retardation, Autosomal Recessive 54 20
1903 NRD054 Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures 20
1904 c MNT281 Mental Retardation, Autosomal Recessive 59 20
1905 c JBR038 Joubert Syndrome 27 20
1906 c CTR183 Cataract 38 20
1907 c MLG023 Malignant Adult Ependymoma 20
1908 CNT067 Central Cord Syndrome 20
1909 NRF010 Neurofaciodigitorenal Syndrome 20
1910 c CTR159 Cataract 35 20
1911 c CTR185 Cataract 30 20
1912 c MNT284 Mental Retardation, Autosomal Recessive 56 20
1913 c PRV021 Periventricular Nodular Heterotopia 8 20
1914 NRD045 Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills 19
1915 c GNR020 Gne-Related Myopathy 19
1916 c CTR106 Cataract 20, Multiple Types 19
1917 c D2H003 D-2-Hydroxyglutaric Aciduria 2 19
1918 LKN018 Leukoencephalopathy, Progressive, with Ovarian Failure 19
1919 c SPN363 Spinocerebellar Ataxia, X-Linked 4 19
1920 c CTR163 Cataract 46, Juvenile-Onset 19
1921 NRD052 Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures 19
1922 CHD007 Chd2 Myoclonic Encephalopathy 19
1923 c CTR121 Cataract 25 19
1924 SPN409 Spongiform Encephalopathy with Neuropsychiatric Features 19
1925 c CTR110 Cataract 26, Multiple Types 19
1926 c HYD042 Hydrocephalus, Autosomal Dominant 18
1927 XLN162 X-Linked Intellectual Disability, Najm Type 18
1928 NRD025 Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations 18
1929 c CTR144 Cataract 43 18
1930 c SPN203 Spinocerebellar Ataxia, X-Linked 5 18
1931 c CTR157 Cataract 28 18
1932 c CTR139 Cataract 42 18
1933 BBB001 Bobble-Head Doll Syndrome 18
1934 c CTR160 Cataract 45 18
1935 CRB158 Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 18
1936 c INT336 Intellectual Developmental Disorder, Autosomal Recessive 68 18
1937 NRD043 Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities 17
1938 c CTR178 Cataract 27 17
1939 ABS003 Absence of Septum Pellucidum 17
1940 c CTR025 Cataract, Total Congenital 17
1941 MGC007 Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations 17
1942 MNT331 Mental Retardation, Autosomal Dominant 55, with Seizures 16
1943 HYD066 Hydrocephalus, Congenital, 3, with Brain Anomalies 16
1944 NRD056 Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities 16
1945 KRS005 Korsakoff's Amnesic Syndrome 16
1946 c HYP834 Hypomagnesemia, Seizures, and Mental Retardation 2 16
1947 c CTR187 Cataract 48 16
1948 c CRB140 Cerebral Palsy, Spastic Quadriplegic, 2 15
1949 PRN006 Parenchymatous Neurosyphilis 15
1950 ERB002 Erb's Palsy 15
1951 c SPN403 Spinocerebellar Ataxia, X-Linked 2 14
1952 NRD062 Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction 14
1953 c CTR128 Cataract 33 14
1954 NRD055 Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum 14
1955 NRD035 Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures 14
1956 TRN074 Turnpenny-Fry Syndrome 14
1957 MCR371 Microcephaly, Growth Deficiency, Seizures, and Brain Malformations 14
1958 PST054 Postinfectious Encephalomyelitis 14
1959 P INT335 Intellectual Developmental Disorder, Autosomal Recessive 67 13
1960 c DYS194 Dysautonomia-Like Disorder 13
1961 c RST013 Restless Legs Syndrome 2 13
1962 BRN112 Brain Dopamine-Serotonin Vesicular Transport Disease 12
1963 c SYN070 Syngap1-Related Non-Syndromic Intellectual Disability 12
1964 CNT024 Central Nervous System Lipoma 12
1965 MTB009 Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression 12
1966 NRS002 Neuroaspergillosis 11
1967 MLP003 Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type 11
1968 c GNT045 Giant Axonal Neuropathy 2 11
1969 NRD066 Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements 11
1970 c MYP129 Myopathy Due to Malate-Aspartate Shuttle Defect 11
1971 c RST021 Restless Legs Syndrome 5 11
1972 P SYN073 Syngap1-Related Intellectual Disability 11
1973 c RST019 Restless Legs Syndrome 8 10
1974 c MYC090 Myoclonus, Familial, 2 10
1975 c RST015 Restless Legs Syndrome 4 10
1976 CNT030 Central Nervous System Leiomyosarcoma 10
1977 STB003 Setbp1 Disorder 10
1978 c RST014 Restless Legs Syndrome 3 10
1979 c INT094 Intermediate Severe Salla Disease 9
1980 CNT002 Central Nervous System Angiosarcoma 9
1981 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 9
1982 CRV015 Cervical Large Cell Neuroendocrine Carcinoma 9
1983 GNR012 Generalized Gangliosidoses 9
1984 PLT011 Pilotto Syndrome 9
1985 c BNG038 Benign Autosomal Dominant Myopathy 9
1986 P CNT040 Central Nervous System Mature Teratoma 9
1987 P CNT039 Central Nervous System Immature Teratoma 9
1988 BRS024 Breast Large Cell Neuroendocrine Carcinoma 9
1989 c CTR008 Cataract Congenital Autosomal Dominant 8
1990 c ADL040 Adult Brain Ependymoma 8
1991 c PPP001 Ppp2r5d-Related Intellectual Disability 8
1992 TCK005 Tucker Syndrome 8
1993 c CRN093 Craniosynostosis Autosomal Dominant 7
1994 MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 7
1995 IRF002 Irf2bpl-Related Disorders 7
1996 c HYD017 Hydrocephalus Autosomal Recessive 6
1997 BRN116 Brain Stem Medulloblastoma 6
1998 SML035 Small Intestine Carcinoid Neuroendocrine Tumor 5
1999 c PLY008 Polyneuropathy Due to Drug 5
2000 c ATS179 Autosomal Recessive Cerebral Atrophy 5
2001 XLN132 X-Linked Intellectual Disability, Schimke Type 5
2002 TTN003 Tetanus 66
2003 P DYS154 Dystonia 65
2004 MNT002 Mental Depression 65
2005 P HLP001 Holoprosencephaly 65
2006 c MCL062 Mucolipidosis Ii Alpha/beta 64
2007 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 63
2008 P RBL001 Rubella 62
2009 SPN027 Spinal Stenosis 61
2010 P EPL140 Epilepsy, Idiopathic Generalized 61
2011 PLL001 Pallister-Hall Syndrome 61
2012 c BCT007 Bacterial Meningitis 61
2013 JPN002 Japanese Encephalitis 60
2014 c EPL209 Epilepsy, Idiopathic Generalized 10 60
2015 FCL081 Focal Cortical Dysplasia, Type Ii 60
2016 P OLG002 Oligodendroglioma 60
2017 P DST002 Distal Arthrogryposis 60
2018 P FCS002 Fucosidosis 59
2019 c MCL013 Mucolipidosis Iv 58
2020 INT075 Intracranial Hypertension 57
2021 c MCL046 Mucolipidosis Iii Alpha/beta 56
2022 P DYS193 Dystonia 11, Myoclonic 56
2023 ARS001 Aarskog-Scott Syndrome 56
2024 TCK001 Tick-Borne Encephalitis 56
2025 c TYR012 Tyrosinemia, Type I 55
2026 P DBT005 Diabetes Insipidus 55
2027 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
2028 c ADL023 Adult Medulloblastoma 53
2029 GNG002 Ganglioneuroma 53
2030 INT303 Intracranial Hypertension, Idiopathic 52
2031 c CNG208 Congenital Disorder of Glycosylation, Type Iic 52
2032 c NMN014 Niemann-Pick Disease, Type C2 52
2033 c BRD012 Bardet-Biedl Syndrome 11 51
2034 MYL001 Myelitis 51
2035 c SPN309 Spinocerebellar Ataxia 6 49
2036 c HLP023 Holoprosencephaly 1 49
2037 PTT041 Pituitary Stalk Interruption Syndrome 49
2038 P NLX004 Neu-Laxova Syndrome 1 49
2039 c BRD044 Bardet-Biedl Syndrome 17 48
2040 P HRN001 Horner's Syndrome 48
2041 HRD026 Hereditary Ataxia 48
2042 c CNG124 Congenital Rubella 48
2043 BSL008 Basal Ganglia Disease 48
2044 c BRD013 Bardet-Biedl Syndrome 12 48
2045 P TYR004 Tyrosinemia 48
2046 P ERY008 Erythromelalgia 48
2047 NRR001 Neuroretinitis 47
2048 c MYS051 Myasthenic Syndrome, Congenital, 5 47
2049 TRC010 Trichotillomania 47
2050 SYD002 Sydenham Chorea 47
2051 P BRB001 Beriberi 46
2052 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 46
2053 c TYR013 Tyrosinemia, Type Ii 46
2054 DBW001 Dubowitz Syndrome 46
2055 P DMY001 Demyelinating Polyneuropathy 46
2056 c LKD010 Leukodystrophy, Hypomyelinating, 2 46
2057 ANP006 Anaplastic Ependymoma 46
2058 P DNR001 Duane Retraction Syndrome 46
2059 P HYP263 Hypersomnia 45
2060 P MCL001 Mucolipidosis 45
2061 SPS005 Spastic Hemiplegia 45
2062 c BRD020 Bardet-Biedl Syndrome 8 45
2063 c BRD033 Bardet-Biedl Syndrome 13 45
2064 SPN050 Spinocerebellar Degeneration 45
2065 OLV002 Oliver Syndrome 45
2066 c ART061 Arthrogryposis, Distal, Type 2a 45
2067 BHR002 Bohring-Opitz Syndrome 45
2068 SCT001 Sciatic Neuropathy 45
2069 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 44
2070 c BRD011 Bardet-Biedl Syndrome 10 44
2071 WDM004 Wiedemann-Steiner Syndrome 44
2072 TRC023 Trichinosis 44
2073 c AMY090 Amyotrophic Lateral Sclerosis 8 44
2074 SPS057 Spasticity 44
2075 c TYR011 Tyrosinemia, Type Iii 43
2076 c BRD015 Bardet-Biedl Syndrome 3 43
2077 HMC041 Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 43
2078 GRN006 Granulomatous Angiitis 43
2079 P PLL002 Pellagra 43
2080 BSL009 Basal Ganglia Calcification 43
2081 HRT030 Hartsfield Syndrome 43
2082 c MCL016 Mucolipidosis Iii Gamma 42
2083 c RCR002 Recurrent Hypersomnia 42
2084 c BRD048 Bardet-Biedl Syndrome 18 42
2085 VNC001 Von Economo's Disease 42
2086 c ART146 Arthrogryposis, Distal, Type 9 42
2087 TXC011 Toxocariasis 42
2088 c BRD035 Bardet-Biedl Syndrome 15 42
2089 c ATM075 Autoimmune Encephalitis 42
2090 CRB022 Cerebellar Liponeurocytoma 42
2091 c HLP024 Holoprosencephaly 2 42
2092 HYP016 Hypochondriasis 41
2093 P MRN003 Marinesco-Sjogren Syndrome 41
2094 c LTH007 Lethal Congenital Contracture Syndrome 1 41
2095 c HLP026 Holoprosencephaly 3 41
2096 MYS054 Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency 41
2097 c MCR320 Microcephaly 17, Primary, Autosomal Recessive 41
2098 c SPN106 Spinocerebellar Ataxia 5 41
2099 CRB002 Cerebral Primitive Neuroectodermal Tumor 40
2100 c HLP029 Holoprosencephaly 4 40
2101 KR002 Kuru 40
2102 CVR010 Cavernous Malformation 40
2103 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 40
2104 c GRS012 Griscelli Syndrome, Type 3 40
2105 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 40
2106 c DNR003 Duane Retraction Syndrome 1 40
2107 ENC005 Encephalomalacia 40
2108 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 40
2109 ACR041 Acromelic Frontonasal Dysostosis 40
2110 c MCR238 Microcephaly 7, Primary, Autosomal Recessive 40
2111 c HNT011 Huntington Disease-Like 3 40
2112 c BRD017 Bardet-Biedl Syndrome 5 39
2113 c ATM100 Autoimmune Optic Neuritis 39
2114 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 39
2115 P AXN001 Axonal Neuropathy 39
2116 P HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 39
2117 HYD001 Hydranencephaly 39
2118 MLY001 Molybdenum Cofactor Deficiency 39
2119 BTR002 Beta-Ureidopropionase Deficiency 38
2120 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 38
2121 INT004 Intraneural Perineurioma 38
2122 CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 38
2123 OLG006 Oligoastrocytoma 38
2124 c ADL008 Adult Oligodendroglioma 37
2125 c BRD045 Bardet-Biedl Syndrome 19 36
2126 DNC004 Diencephalic Syndrome 36
2127 CRD043 Ceroid Storage Disease 36
2128 c ART147 Arthrogryposis, Distal, Type 7 36
2129 c AMY088 Amyotrophic Lateral Sclerosis 3 36
2130 CRN088 Craniorachischisis 36
2131 DYS003 Dysgraphia 36
2132 P MYS047 Myasthenic Syndrome, Congenital, 1b, Fast-Channel 36
2133 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 35
2134 TLS001 Tolosa-Hunt Syndrome 35
2135 c BRD047 Bardet-Biedl Syndrome 16 35
2136 DFF012 Differentiating Neuroblastoma 35
2137 MXD026 Mixed Glioma 35
2138 c SPN101 Spinocerebellar Ataxia 29 35
2139 c ATS384 Autosomal Dominant Non-Syndromic Intellectual Disability 2 35
2140 AST002 Astroblastoma 35
2141 c AMY085 Amyotrophic Lateral Sclerosis 9 35
2142 c SPN095 Spinocerebellar Ataxia 19 35
2143 P PRS013 Prosopagnosia 35
2144 c PRM031 Primary Autosomal Recessive Microcephaly 35
2145 c ART119 Arthrogryposis, Distal, Type 5 34
2146 c MCP048 Mucopolysaccharidosis, Type Ivb 34
2147 c MCP045 Mucopolysaccharidosis, Type Iiic 34
2148 c SPN266 Spinocerebellar Ataxia 35 34
2149 CHR662 Chromosome 15q13.3 Deletion Syndrome 34
2150 BRN018 Borna Disease 34
2151 c HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 34
2152 PCH002 Pachygyria 34
2153 c HLP028 Holoprosencephaly 5 34
2154 CLB026 Colobomatous Microphthalmia 34
2155 c PNT043 Pontocerebellar Hypoplasia, Type 4 33
2156 PRM004 Primary Amebic Meningoencephalitis 33
2157 PRS064 Persistent Vegetative State 33
2158 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 33
2159 DFF029 Diffuse Large B-Cell Lymphoma of the Central Nervous System 33
2160 THY108 Thymic Neuroendocrine Tumor 33
2161 SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 33
2162 SPS226 Spastic Paraplegia, Ataxia, and Mental Retardation 33
2163 DDN005 Duodenal Somatostatinoma 33
2164 CRB169 Cerebellar Atrophy, Developmental Delay, and Seizures 32
2165 c HRD198 Hereditary Dystonia 32
2166 c ATS385 Autosomal Dominant Non-Syndromic Intellectual Disability 3 32
2167 c SPN383 Spinocerebellar Ataxia 42 32
2168 c MCP046 Mucopolysaccharidosis, Type Iiid 32
2169 ATY004 Atypical Neurofibroma 32
2170 c AMY067 Amyotrophic Lateral Sclerosis 18 32
2171 c SPN104 Spinocerebellar Ataxia 34 31
2172 P LTH003 Lethal Congenital Contracture Syndrome 31
2173 c CNG192 Congenital Disorder of Glycosylation, Type Ik 31
2174 c AMY083 Amyotrophic Lateral Sclerosis 11 31
2175 NRL001 Neurilemmoma of the Fifth Cranial Nerve 31
2176 P SLW003 Slow-Channel Congenital Myasthenic Syndrome 31
2177 CHR281 Chronic Hiccups 31
2178 CHL033 Childhood Malignant Schwannoma 31
2179 c AMY059 Amyotrophic Lateral Sclerosis 19 31
2180 c DYS059 Dystonia 16 31
2181 PSD001 Pseudobulbar Palsy 31
2182 ALK024 Alkuraya-Kucinskas Syndrome 31
2183 ACT032 Acute Hemorrhagic Leukoencephalitis 31
2184 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 30
2185 MDN002 Median Neuropathy 30
2186 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 30
2187 MGL033 Megalocornea-Mental Retardation Syndrome 30
2188 SCH024 Schinzel Giedion Syndrome 30
2189 c PNT033 Pontocerebellar Hypoplasia, Type 10 30
2190 EXT051 Extracranial Arteriovenous Malformation 30
2191 DRG004 Drug-Induced Mental Disorder 30
2192 c DYS146 Dystonia 24 29
2193 c CCK003 Cockayne Syndrome Type Ii 29
2194 RVR002 Reversible Cerebral Vasoconstriction Syndrome 29
2195 c ART112 Arthrogryposis, Distal, Type 10 29
2196 c ACR084 Aicardi-Goutieres Syndrome 7 29
2197 PLL004 Pallister W Syndrome 28
2198 CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 28
2199 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 28
2200 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 28
2201 HYD034 Hydromyelia 28
2202 c JBR026 Joubert Syndrome 15 28
2203 c ART104 Arthrogryposis, Distal, Type 5d 28
2204 EXT044 Extraventricular Neurocytoma 28
2205 c DYS162 Dystonia, Juvenile-Onset 27
2206 CLL006 Cellular Neurofibroma 27
2207 c PRK065 Parkinson Disease 20, Early-Onset 27
2208 c MYS059 Myasthenic Syndrome, Congenital, 4a, Slow-Channel 27
2209 c BRD050 Bardet-Biedl Syndrome 21 27
2210 c LKD020 Leukodystrophy, Hypomyelinating, 10 27
2211 GBM001 Gaba Aminotransferase Deficiency 27
2212 RMN002 Ramon Syndrome 27
2213 c SPN372 Spinocerebellar Ataxia 43 27
2214 BRN137 Bronchial Neuroendocrine Tumor 27
2215 c ART128 Arthrogryposis, Distal, Type 6 27
2216 c DYS145 Dystonia 23 27
2217 NRG005 Neurogenic Hypertension 27
2218 c PNT050 Pontocerebellar Hypoplasia, Type 11 26
2219 MLT011 Multiple Mucosal Neuroma 26
2220 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 26
2221 c RTT008 Rett Syndrome, Congenital Variant 26
2222 c LTH039 Lethal Congenital Contracture Syndrome 11 26
2223 ALP085 Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 26
2224 c LTH027 Lethal Congenital Contracture Syndrome 5 26
2225 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 26
2226 CNG538 Congenital Arthrogryposis with Anterior Horn Cell Disease 26
2227 CHR506 Choroideremia, Deafness, and Mental Retardation 26
2228 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 26
2229 HGH001 High Pressure Neurological Syndrome 26
2230 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 26
2231 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 26
2232 c PNT051 Pontocerebellar Hypoplasia, Type 1d 26
2233 ENC065 Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization 26
2234 c LKD022 Leukodystrophy, Hypomyelinating, 13 26
2235 BRN097 Brainstem Auditory Evoked Responses 26
2236 DYT006 Dyt-Tor1a 26
2237 MLD017 Mal De Debarquement Syndrome 26
2238 c ART131 Arthrogryposis, Distal, Type 4 25
2239 c ATS383 Autosomal Dominant Non-Syndromic Intellectual Disability 1 25
2240 TXC008 Toxic Optic Neuropathy 25
2241 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 25
2242 P SYN064 Syndromic X-Linked Intellectual Disability 25
2243 c GST091 Gastrointestinal Neuroendocrine Benign Tumor 25
2244 c ART122 Arthrogryposis, Distal, Type 8 25
2245 c HYP698 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 25
2246 NNS032 Non-Syndromic X-Linked Intellectual Disability 25
2247 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 25
2248 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 25
2249 PHC018 Phace Association 25
2250 c LTH031 Lethal Congenital Contracture Syndrome 6 25
2251 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 25
2252 MRC001 Marchiafava Bignami Disease 24
2253 c LKD023 Leukodystrophy, Hypomyelinating, 12 24
2254 c BRD051 Bardet-Biedl Syndrome 20 24
2255 c LTH042 Lethal Congenital Contracture Syndrome 10 24
2256 c HYP714 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 24
2257 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 24
2258 BSL045 Basel-Vanagaite-Smirin-Yosef Syndrome 24
2259 P SPN039 Spinal Canal and Spinal Cord Meningioma 24
2260 INT312 Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 24
2261 LSS039 Lissencephaly 6 with Microcephaly 24
2262 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 24
2263 SPN187 Spinocerebellar Atrophy 24
2264 c CRN216 Craniosynostosis 5 24
2265 MCR354 Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures 24
2266 c INF065 Infantile Hypotonia 24
2267 MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 24
2268 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 24
2269 c HLP016 Holoprosencephaly 11 24
2270 MYP086 Myopathy with Extrapyramidal Signs 24
2271 SPN368 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 24
2272 c MYS060 Myasthenic Syndrome, Congenital, 4b, Fast-Channel 23
2273 c LTH047 Lethal Congenital Contracture Syndrome 3 23
2274 INT110 Intracranial Cysts 23
2275 PRS053 Parsonage Turner Syndrome 23
2276 c LTH032 Lethal Congenital Contracture Syndrome 7 23
2277 c JBR035 Joubert Syndrome 24 23
2278 c DYS172 Dystonia 27 23
2279 c MNT181 Mental Retardation, Autosomal Recessive 35 23
2280 P CFL005 Cafe-Au-Lait Spots, Multiple 23
2281 LWR016 Lowry-Maclean Syndrome 23
2282 c NLX003 Neu-Laxova Syndrome 2 23
2283 OHT001 Ohtahara Syndrome 23
2284 ALC013 Alcohol-Induced Mental Disorder 23
2285 MNT256 Mental Retardation, Buenos Aires Type 23
2286 c SPS042 Spastic Paraplegia 9 23
2287 c PRP105 Peripheral Nervous System Benign Neoplasm 23
2288 CMB041 Combined Oxidative Phosphorylation Deficiency 13 23
2289 MNN022 Meningoencephalocele 23
2290 SHS001 Shashi-Pena Syndrome 23
2291 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 23
2292 c LTH029 Lethal Congenital Contracture Syndrome 9 23
2293 CLR029 Clark-Baraitser Syndrome 22
2294 c DYS138 Dystonia 21 22
2295 MGL027 Megalocornea-Intellectual Disability Syndrome 22
2296 CMB054 Combined Oxidative Phosphorylation Deficiency 23 22
2297 c MYS070 Myasthenic Syndrome, Congenital, 19 22
2298 c LTH030 Lethal Congenital Contracture Syndrome 8 22
2299 YNH001 Yuan-Harel-Lupski Syndrome 22
2300 c LKD029 Leukodystrophy, Hypomyelinating, 16 22
2301 c JBR027 Joubert Syndrome 16 22
2302 LKD026 Leukodystrophy, Progressive, Early Childhood-Onset 22
2303 c ENC060 Encephalopathy, Acute, Infection-Induced 1 22
2304 c EPL084 Epilepsy, Idiopathic Generalized 11 22
2305 c MYS065 Myasthenic Syndrome, Congenital, 18 22
2306 c AMY063 Amyotrophic Lateral Sclerosis 20 22
2307 c PRS058 Prosopagnosia, Hereditary 22
2308 MCD002 Mcdonough Syndrome 22
2309 CRB087 Cerebral Arteriosclerosis 22
2310 PRV020 Periventricular Heterotopia with Microcephaly, Autosomal Recessive 22
2311 c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 22
2312 c MNT162 Mental Retardation, Autosomal Recessive 24 22
2313 c HLP022 Holoprosencephaly 8 21
2314 c MCR262 Microphthalmia, Syndromic 4 21
2315 c EPL086 Epilepsy, Idiopathic Generalized 9 21
2316 P ALP068 Alopecia-Intellectual Disability Syndrome 21
2317 MDR006 Moderate and Severe Traumatic Brain Injury 21
2318 c AMY110 Amyotrophic Lateral Sclerosis 24 21
2319 c CHR139 Charcot-Marie-Tooth Disease Type 2c 21
2320 c MYS049 Myasthenic Syndrome, Congenital, 3b, Fast-Channel 21
2321 MTP004 Metaphyseal Acroscyphodysplasia 21
2322 c MNT172 Mental Retardation, Autosomal Recessive 25 21
2323 URM001 Uremic Neuropathy 21
2324 c HRN024 Horner Syndrome, Congenital 21
2325 c MNT165 Mental Retardation, Autosomal Recessive 28 21
2326 NRP027 Neuropathy, Painful 21
2327 HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 21
2328 JBR046 Jaberi-Elahi Syndrome 21
2329 c MNT163 Mental Retardation, Autosomal Recessive 30 20
2330 c MNT182 Mental Retardation, Autosomal Recessive 19 20
2331 YHV001 You-Hoover-Fong Syndrome 20
2332 HRS002 Hersh Podruch Weisskopk Syndrome 20
2333 7Q1002 7q11.23 Duplication Syndrome 20
2334 P CRB125 Cerebral Palsy, Spastic Quadriplegic, 1 20
2335 c ATS358 Autism X-Linked 6 20
2336 c MLT167 Multiple Mitochondrial Dysfunctions Syndrome 6 20
2337 c MNT170 Mental Retardation, Autosomal Recessive 23 20
2338 HYP707 Hypertrophic Olivary Degeneration 20
2339 c MNT167 Mental Retardation, Autosomal Recessive 16 20
2340 c FLN007 Flna-Related Periventricular Nodular Heterotopia 20
2341 c ENC063 Encephalopathy, Acute, Infection-Induced 7 20
2342 c EPL098 Epilepsy, Idiopathic Generalized 12 20
2343 c EPL205 Epilepsy, Idiopathic Generalized 13 20
2344 c ART060 Arthrogryposis, Distal, Type 1b 20
2345 MCR052 Microcephaly Microcornea Syndrome Seemanova Type 20
2346 c SYN078 Syndromic X-Linked Intellectual Disability Type 10 20
2347 EPL166 Epilepsy, Early-Onset, Vitamin B6-Dependent 20
2348 TBL027 Tubulinopathy-Associated Dysgyria 20
2349 c MNT180 Mental Retardation, Autosomal Recessive 33 20
2350 SPN086 Spinal Intradural Arachnoid Cysts 20
2351 HRS003 Hirschsprung Disease Ganglioneuroblastoma 20
2352 c EPL093 Epilepsy, Idiopathic Generalized 7 20
2353 BRC121 Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation 20
2354 CMB078 Combined Oxidative Phosphorylation Deficiency 32 20
2355 c LTH026 Lethal Congenital Contracture Syndrome 4 20
2356 OCL043 Oculorenocerebellar Syndrome 19
2357 c MYS048 Myasthenic Syndrome, Congenital, 3a, Slow-Channel 19
2358 c MNT161 Mental Retardation, Autosomal Recessive 29 19
2359 c AMY112 Amyotrophic Lateral Sclerosis 25 19
2360 MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 19
2361 c ATS268 Autism X-Linked 4 19
2362 c EPL165 Epilepsy, Idiopathic Generalized 14 19
2363 c SPS038 Spastic Paraplegia 39 19
2364 c AMY062 Amyotrophic Lateral Sclerosis 12 19
2365 c AMY108 Amyotrophic Lateral Sclerosis 23 19
2366 INF036 Inflammatory and Toxic Neuropathy 19
2367 c DNR004 Duane Retraction Syndrome 2 19
2368 c DYS175 Dystonia 26, Myoclonic 19
2369 EPL162 Epilepsy-Telangiectasia 18
2370 c BMN004 Biemond Syndrome Ii 18
2371 KZL006 Kozlowski-Krajewska Syndrome 18
2372 MYS050 Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency 18
2373 ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 18
2374 KNN010 Kennerknecht Syndrome 18
2375 CHR397 Chromosome Xp11.3 Deletion Syndrome 18
2376 P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 18
2377 c MNT160 Mental Retardation, Autosomal Recessive 31 18
2378 c PLL014 Pellagra-Like Syndrome 18
2379 EXT039 Extrapontine Myelinolysis 18
2380 PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 18
2381 c BSL032 Basal Ganglia Calcification, Idiopathic, 4 18
2382 HYP688 Hypospadias-Mental Retardation Syndrome 18
2383 IDP081 Idiopathic Hypertrophic Pachymeningitis 18
2384 ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 18
2385 c SYN082 Syndromic X-Linked Intellectual Disability 14 18
2386 MRF017 Marfanoid Mental Retardation Syndrome, Autosomal 18
2387 c ENC037 Encephalopathy, Acute, Infection-Induced 6 18
2388 EXT008 Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor 17
2389 c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 17
2390 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 17
2391 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 17
2392 RSS027 Russell-Silver Syndrome, X-Linked 17
2393 FXG001 Foxg1 Syndrome 17
2394 CRB053 Cerebellar Agenesis 17
2395 MYS063 Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency 17
2396 DXT003 Dextrocardia with Unusual Facies and Microphthalmia 17
2397 CNT034 Central Nervous System Childhood Germ Cell Tumor 17
2398 c MNT247 Mental Retardation, X-Linked 73 17
2399 c DYS058 Dystonia 15, Myoclonic 17
2400 MNT030 Mental Retardation Syndrome, Belgian Type 17
2401 SDM003 Sodium Channelopathy-Related Small Fiber Neuropathy 17
2402 c ART054 Arthrogryposis, Distal, Type 2e 17
2403 WHT018 White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome 17
2404 LJN002 Lujan Syndrome 17
2405 OPH013 Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency 17
2406 ARL006 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 17
2407 c ATS387 Autosomal Dominant Non-Syndromic Intellectual Disability 5 17
2408 SPN344 Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 17
2409 SPS047 Spastic Paraplegia with Precocious Puberty 17
2410 ACT235 Acute Macular Neuroretinopathy 17
2411 c ART156 Arthrogryposis, Distal, Type 2b2 17
2412 c CNT032 Central Nervous System Adult Germ Cell Tumor 17
2413 c ART157 Arthrogryposis, Distal, Type 2b3 16
2414 SYP004 Syphilitic Aseptic Meningitis 16
2415 c HRD156 Hereditary Central Diabetes Insipidus 16
2416 MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 16
2417 c MNT204 Mental Retardation, X-Linked 23 16
2418 BRC089 Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome 16
2419 c EPL091 Epilepsy, Idiopathic Generalized 3 16
2420 SNR002 Sener Syndrome 16
2421 MNT255 Mental Retardation and Psoriasis 16
2422 ART029 Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 16
2423 ADL042 Adult Malignant Schwannoma 16
2424 c NRN038 Neuronal Intestinal Dysplasia, Type B 16
2425 c ATS386 Autosomal Dominant Non-Syndromic Intellectual Disability 4 16
2426 SKL027 Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal 16
2427 DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 16
2428 CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 16
2429 c EPL208 Epilepsy, Idiopathic Generalized 8 16
2430 c MNT194 Mental Retardation, X-Linked 50 16
2431 MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 16
2432 c CHR550 Charcot-Marie-Tooth Disease Type 2n 16
2433 c SYN056 Syndromic X-Linked Intellectual Disability 7 16
2434 CHM001 Cahmr Syndrome 15
2435 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 15
2436 BRN122 Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome 15
2437 CHR580 Choroid Plexus Calcification and Mental Retardation 15
2438 PRD033 Periodic Paralysis with Later-Onset Distal Motor Neuropathy 15
2439 c MNT202 Mental Retardation, X-Linked 53 15
2440 c EPL236 Epilepsy, Idiopathic Generalized 15 15
2441 SYR007 Syringohydromyelia 15
2442 HRD035 Hair Defect with Photosensitivity and Mental Retardation 15
2443 NNP016 Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy 15
2444 ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 15
2445 MYC032 Myoclonic Encephalopathy of Infants 15
2446 c TRT014 Teratoma of the Central Nervous System 15
2447 ACT236 Acute Motor and Sensory Axonal Neuropathy 15
2448 c NNS019 Nonsyndromic Holoprosencephaly 15
2449 SPS195 Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 15
2450 GRW038 Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 15
2451 c ACQ034 Acquired Central Diabetes Insipidus 15
2452 c ENC062 Encephalopathy, Acute, Infection-Induced 5 15
2453 c ALP075 Alopecia-Mental Retardation Syndrome 2 14
2454 ECT104 Ectodermal Dysplasia with Mental Retardation and Syndactyly 14
2455 5Q1001 5q14.3 Microdeletion Syndrome 14
2456 c HLP021 Holoprosencephaly 6 14
2457 SYN079 Syndromic X-Linked Intellectual Disability Siderius Type 14
2458 EHL082 Ehlers-Danlos Syndrome, Beasley-Cohen Type 14
2459 ACT162 Acute Sensory Ataxic Neuropathy 14
2460 SPS194 Spastic Paresis, Glaucoma, and Mental Retardation 14
2461 c DST092 Distal Hereditary Motor Neuropathy Type 7 14
2462 CRM010 Cramp-Fasciculation Syndrome 14
2463 P MXD039 Mixed Germ Cell Tumor of Central Nervous System 14
2464 CRN103 Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 14
2465 P BMN001 Biemond Syndrome 14
2466 CHL027 Childhood Central Nervous System Germinoma 14
2467 OHD002 Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant 14
2468 HYP671 Hypomyelination Neuropathy-Arthrogryposis Syndrome 14
2469 NRN023 Neuroendocrine Cell Hyperplasia of Infancy 14
2470 MTR081 Motor Neuron Disease with Dementia and Ophthalmoplegia 14
2471 INT343 Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects 14
2472 HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 14
2473 FTZ003 Fitzsimmons Syndrome 14
2474 CNT103 Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome 14
2475 SPS193 Spastic Paraplegia, Epilepsy, and Mental Retardation 14
2476 THY092 Thymic Neuroendocrine Carcinoma 14
2477 SPT020 Spatial Visualization, Aptitude for 13
2478 ACT161 Acute Pandysautonomia 13
2479 CTS046 Cutis Verticis Gyrata and Mental Retardation 13
2480 c ATS390 Autosomal Dominant Non-Syndromic Intellectual Disability 9 13
2481 PLT021 Pili Torti and Developmental Delay 13
2482 UVL008 Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability 13
2483 DVR003 Devriendt Syndrome 13
2484 CCH008 Cochlear Nerve Deficiency 13
2485 NRN032 Neuroendocrine Tumor of Anal Canal 13
2486 INF124 Infundibulo-Neurohypophysitis 13
2487 MNT315 Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 13
2488 GLL034 Gallbladder Neuroendocrine Tumor 13
2489 c INT345 Intellectual Developmental Disorder, Autosomal Recessive 70 13
2490 c KMT002 Kmt2b-Related Dystonia 13
2491 c SPR105 Sporadic Fetal Brain Disruption Sequence 13
2492 EXT024 Extracranial Neuroblastoma 13
2493 PRP018 Peripheral Nerve Schwannoma 13
2494 DWR021 Dwarfism, Mental Retardation, and Eye Abnormality 13
2495 c ALP063 Alopecia-Mental Retardation Syndrome 3 13
2496 RVN001 Ravine Syndrome 13
2497 INT342 Intellectual Developmental Disorder, X-Linked 108 13
2498 c MNT205 Mental Retardation, X-Linked 42 13
2499 SCL044 Scalp Syndrome 13
2500 STR102 Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Features 12
2501 MNT316 Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 12
2502 MND028 Mandibulofacial Dysostosis with Mental Retardation 12
2503 c EPL089 Epilepsy, Idiopathic Generalized 4 12
2504 PRK068 Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments 12
2505 c SCN066 Secondary Erythromelalgia 12
2506 c CHR571 Charcot-Marie-Tooth Disease Type 5 12
2507 CHR628 Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 12
2508 c EPL090 Epilepsy, Idiopathic Generalized 5 12
2509 SHR089 Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome 12
2510 HYP816 Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes 12
2511 SPN396 Spinal Muscular Atrophy with Mental Retardation 12
2512 CLC058 Clcn2-Related Leukoencephalopathy 12
2513 CHL150 Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter 12
2514 CRM012 Cree Mental Retardation Syndrome 12
2515 PLN009 Palant Cleft Palate Syndrome 12
2516 CMR005 Camera-Marugo-Cohen Syndrome 12
2517 XLN204 X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome 12
2518 c CHR553 Charcot-Marie-Tooth Disease Type 2q 12
2519 XLN128 X-Linked Intellectual Disability, Abidi Type 12
2520 MBS006 Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 12
2521 INT286 Intellectual Disability-Spasticity-Ectrodactyly Syndrome 12
2522 NRL021 Neurologic Disease, Infantile Multisystem, with Osseous Fragility 12
2523 c INT344 Intellectual Developmental Disorder, Autosomal Recessive 69 11
2524 c CHR315 Charcot-Marie-Tooth Neuropathy Type 4j 11
2525 DFN340 Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease 11
2526 c EPL092 Epilepsy, Idiopathic Generalized 2 11
2527 c CHR121 Charcot-Marie-Tooth Neuropathy X Type 5 11
2528 MDN009 Median-Ulnar Nerve Communications 11
2529 PCN001 Pacinian Tumor 11
2530 c ATS394 Autosomal Dominant Mental Retardation 55 11
2531 c CHR551 Charcot-Marie-Tooth Disease Type 2o 11
2532 FCL076 Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 11
2533 CTR179 Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy 11
2534 MSC159 Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 11
2535 PRN067 Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 10
2536 SPN388 Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy 10
2537 ART149 Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies 10
2538 NRP050 Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 10
2539 P OPT029 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 10
2540 RCR030 Recurrent Idiopathic Neuroretinitis 10
2541 c PRM246 Primary Tethered Cord Syndrome 10
2542 NRN039 Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 10
2543 ART055 Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies 10
2544 NRD063 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 10
2545 MDD017 Middle Ear Neuroendocrine Tumor 10
2546 AMY015 Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 10
2547 NRF004 Neurofibroma of the Esophagus 10
2548 LRY052 Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 10
2549 MNT250 Mental Retardation with Spastic Paraplegia 10
2550 c FCS008 Fucosidosis Type 1 10
2551 CRB178 Cerebellar Ataxia and Neurosensory Deafness 10
2552 NDL022 Nodular Neuronal Heterotopia 10
2553 XLN092 X-Linked Neurodegenerative Syndrome, Bertini Type 10
2554 VTL010 Vitiligo, Progressive, with Mental Retardation and Urethral Duplication 10
2555 HRD179 Hair Defect-Photosensitivity-Intellectual Disability Syndrome 10
2556 EPT006 Epithelioid Neurofibroma 9
2557 MLG153 Malignant Peripheral Nerve Sheath Tumor with Perineurial Differentiation 9
2558 HYP783 Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 9
2559 HRD175 Hereditary Motor and Sensory Neuropathy with Acrodystrophy 9
2560 TNK001 Tonoki Syndrome 9
2561 c ALP081 Alopecia Intellectual Disability Syndrome 2 9
2562 NRP061 Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia 9
2563 CTS047 Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation 9
2564 XLN091 X-Linked Neurodegenerative Syndrome, Hamel Type 9
2565 SPN397 Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 9
2566 MNT299 Mental and Growth Retardation with Amblyopia 9
2567 MSC144 Muscular Atrophy, Malignant Neurogenic 9
2568 LNT009 Lentiginosis, Centrofacial Neurodysraphic 9
2569 PNF002 Painful Legs and Moving Toes Syndrome 9
2570 NRP052 Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine 9
2571 CHD003 Chudley Rozdilsky Syndrome 9
2572 MYL068 Myelinated Optic Nerve Fibers 9
2573 SYN091 Syndromic X-Linked Intellectual Disability Nascimento Type 8
2574 ELC003 Electroencephalographic Pattern, Beta Frequency, Quantitative Trait Locus 8
2575 OHD001 Ohdo Syndrome, Maat-Kievit-Brunner Type 8
2576 P CRN291 Cranial Nerves, Recurrent Paresis of 8
2577 EPL197 Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation 8
2578 IND013 Indolylacroyl Glycinuria with Mental Retardation 8
2579 SCR041 Sucrosuria, Hiatus Hernia and Mental Retardation 8
2580 NRD064 Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion 8
2581 JJN001 Jejunal Somatostatinoma 8
2582 PFF002 Pfeiffer Kapferer Syndrome 8
2583 OPH019 Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 8
2584 c MRN006 Marinesco-Sjogren-Like Syndrome 8
2585 c ATS417 Autosomal Dominant Non-Syndromic Intellectual Disability 19 8
2586 TBL001 Tibial Nerve Palsy 8
2587 DSL004 Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 8
2588 c SYN077 Syndromic X-Linked Intellectual Disability 12 8
2589 PSD115 Pseudouridinuria and Mental Defect 8
2590 PRP104 Prepubertal Anorexia Nervosa 8
2591 CRT047 Creatine Kinase, Brain Type, Ectopic Expression of 8
2592 HYP797