Neuronal Diseases Category (5377 diseases)


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

# Family MCID Name MIFTS
1 P NRF018 Neurofibromatosis, Type 1 78
2 P NRP042 Neuropathy, Hereditary Sensory and Autonomic, Type Ii 45
3 c GLY008 Glycogen Storage Disease Ii 61
4 P GLY013 Glycogen Storage Disease 59
5 c GLY060 Glycogen Storage Disease Ia 55
6 c GLY007 Glycogen Storage Disease Iv 54
7 c GLY019 Glycogen Storage Disease Iiia 50
8 c GLY005 Glycogen Storage Disease Vi 48
9 c GLY011 Glycogen Storage Disease Vii 47
10 c GLY016 Glycogen Storage Disease Ib 39
11 c GLY057 Glycogen Storage Disease X 33
12 c GLY023 Glycogen Storage Disease Type 0 33
13 c GLY044 Glycogen Storage Disease Ixc 31
14 c GLY042 Glycogen Storage Disease Xi 30
15 c GLY009 Glycogen Storage Disease Xv 26
16 c GLY017 Glycogen Storage Disease Ic 25
17 c GLY059 Glycogen Storage Disease Xiii 24
18 c GLY043 Glycogen Storage Disease Xii 23
19 c GLY006 Glycogen Storage Disease Viii 20
20 c GLY093 Glycogen Storage Disease Ixa 14
21 c GLY001 Glycogen Storage Disease Ix 13
22 LKN003 Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation 31
23 P NRP041 Neuropathy, Hereditary Sensory, Type Ie 38
24 c INF069 Infantile Neuroaxonal Dystrophy 1 45
25 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 48
26 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 41
27 MTC036 Mitochondrial Membrane Protein-Associated Neurodegeneration 19
28 BRN028 Brain Cancer 67
29 MTC016 Mitochondrial Neurogastrointestinal Encephalopathy Disease 27
30 DJR004 Dejerine-Sottas Disease 47
31 ABD002 Abducens Nerve Disease 22
32 NRP016 Neuropathy, Recurrent, with Pressure Palsies 38
33 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 40
34 CRD169 Ceroid Lipofuscinosis, Neuronal, 4, Parry Type 27
35 NRM016 Neuromyotonia and Axonal Neuropathy, Autosomal Recessive 30
36 CNC002 Cinca Syndrome 61
37 RNP001 Renpenning Syndrome 52
38 DBT087 Diabetes Insipidus, Neurohypophyseal 59
39 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 28
40 P GNT009 Giant Axonal Neuropathy 52
41 c DST022 Distal Hereditary Motor Neuropathy Type V 25
42 c HRD195 Hereditary Sensory and Autonomic Neuropathy Type 1e 15
43 NRP015 Neuropathy, Congenital Hypomyelinating 45
44 MLG077 Malignant Peripheral Nerve Sheath Tumor 55
45 c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 52
46 c MNT109 Mental Retardation, X-Linked, Syndromic 15 36
47 INT111 Intestinal Pseudoobstruction, Neuronal 31
48 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 40
49 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 23
50 ATH001 Athabaskan Brainstem Dysgenesis Syndrome 27
51 WSM002 Waisman Syndrome 31
52 MNT189 Mental Retardation, X-Linked 29 and Others 23
53 BRN048 Brain Stem Cancer 39
54 P MNT135 Mental Retardation, X-Linked, Syndromic 13 37
55 ACS001 Acoustic Neuroma 55
56 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 30
57 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 49
58 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 36
59 P SPN319 Spinocerebellar Ataxia, Autosomal Recessive with Axonal Neuropathy 29
60 c HRD010 Hereditary Spastic Paraplegia 66
61 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 49
62 P NRD007 Neurodegeneration with Brain Iron Accumulation 49
63 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 45
64 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 42
65 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 40
66 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 38
67 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 38
68 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 37
69 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 37
70 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 37
71 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 36
72 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 36
73 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 36
74 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 36
75 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 35
76 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 34
77 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 34
78 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
79 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 34
80 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 34
81 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 34
82 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 33
83 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 33
84 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 32
85 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 32
86 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 32
87 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 32
88 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 32
89 c HRD185 Hereditary Spastic Paraplegia 3a 31
90 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 31
91 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 31
92 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 30
93 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
94 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 29
95 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 29
96 P SPS012 Spastic Paraplegia 3a 29
97 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 29
98 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 28
99 c SPS031 Spastic Paraplegia 23 27
100 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 27
101 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 26
102 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 26
103 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 26
104 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 26
105 c SPS036 Spastic Paraplegia 3 26
106 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 25
107 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 25
108 c SPS013 Spastic Paraplegia 8 25
109 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 25
110 c SPS021 Spastic Paraplegia 10 25
111 c SPS121 Spastic Paraplegia 3a, Autosomal Dominant 25
112 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 24
113 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 24
114 c SPS200 Spastic Paraplegia 62 24
115 c HRD186 Hereditary Spastic Paraplegia 51 24
116 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 24
117 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 24
118 c SPS025 Spastic Paraplegia 15 24
119 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 24
120 c SPS041 Spastic Paraplegia 6 24
121 c SPS135 Spastic Paraplegia 63 24
122 c SPS091 Spastic Paraplegia 4 23
123 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 23
124 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 23
125 c SPS039 Spastic Paraplegia 5a 22
126 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 22
127 c SPS027 Spastic Paraplegia 17 22
128 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 22
129 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 20
130 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 20
131 c SPS028 Spastic Paraplegia 18 20
132 c SPS034 Spastic Paraplegia 26 20
133 c SPS023 Spastic Paraplegia 13 19
134 c SPS054 Spastic Paraplegia 35 19
135 c SPS022 Spastic Paraplegia 12 19
136 c SPS033 Spastic Paraplegia 25 18
137 c SPS037 Spastic Paraplegia 31 16
138 c SPS175 Spastic Paraplegia 49 16
139 c SPS064 Spastic Paraplegia 45 16
140 c SPS024 Spastic Paraplegia 14 16
141 c SPS173 Spastic Paraplegia 43 15
142 c SPS035 Spastic Paraplegia 29 15
143 c SPS080 Spastic Paraplegia 51 15
144 c SPS174 Spastic Paraplegia 46 15
145 c SPS026 Spastic Paraplegia 16 14
146 c SPS161 Spastic Paraplegia 32 14
147 c SPS052 Spastic Paraplegia 30 14
148 c SPS165 Spastic Paraplegia 47 14
149 c SPS181 Spastic Paraplegia 72 14
150 c SPS056 Spastic Paraplegia 44 14
151 c HRD187 Hereditary Spastic Paraplegia 62 13
152 c HRD188 Hereditary Spastic Paraplegia 72 13
153 c SPS053 Spastic Paraplegia 33 13
154 c SPS177 Spastic Paraplegia 54 13
155 c SPS179 Spastic Paraplegia 57 13
156 c SPS180 Spastic Paraplegia 61 13
157 c SPS029 Spastic Paraplegia 19 13
158 c SPS166 Spastic Paraplegia 50 13
159 c SPS032 Spastic Paraplegia 24 13
160 c SPS164 Spastic Paraplegia 28 12
161 c SPS055 Spastic Paraplegia 42 12
162 c SPS167 Spastic Paraplegia 52 12
163 c SPS178 Spastic Paraplegia 55 12
164 c SPS168 Spastic Paraplegia 56 12
165 c SPS076 Spastic Paraplegia 48 11
166 c SPS140 Spastic Paraplegia 64 11
167 c SPS182 Spastic Paraplegia 75 11
168 c SPS201 Spastic Paraplegia 76 11
169 c SPS199 Spastic Paraplegia 59 11
170 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 10
171 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 10
172 c ATS186 Autosomal Recessive Spastic Paraplegia Type 68 10
173 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 10
174 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 10
175 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 10
176 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 10
177 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 10
178 c SPS176 Spastic Paraplegia 53 10
179 c SPS169 Spastic Paraplegia 66 10
180 c SPS040 Spastic Paraplegia 5b 10
181 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 44
182 CRB106 Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 43
183 SPN040 Spinal Cancer 42
184 ENC039 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 39
185 c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 34
186 c PRM039 Primary Angiitis of the Central Nervous System 28
187 CSY002 Coasy Protein-Associated Neurodegeneration 10
188 c CHR532 Charcot-Marie-Tooth Disease, Type 2e 53
189 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 40
190 NRG008 Neurogenic Arthrogryposis Multiplex Congenita 30
191 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 24
192 c CHR147 Charcot-Marie-Tooth Disease Type 2k 18
193 c CHR143 Charcot-Marie-Tooth Disease Type 2g 16
194 MGR035 Migraine with Brainstem Aura 15
195 c CHR577 Charcot-Marie-Tooth Disease Type 2t 15
196 c CHR549 Charcot-Marie-Tooth Disease Type 2l 15
197 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 14
198 c CHR572 Charcot-Marie-Tooth Disease Type 7 13
199 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 12
200 c ATS362 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2w 11
201 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 10
202 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 10
203 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 8
204 c AMY091 Amyotrophic Lateral Sclerosis 1 78
205 INS027 Insensitivity to Pain, Congenital 54
206 PRP019 Peripheral Nervous System Disease 53
207 c AMY090 Amyotrophic Lateral Sclerosis 8 42
208 c AMY067 Amyotrophic Lateral Sclerosis 18 42
209 c AMY085 Amyotrophic Lateral Sclerosis 9 42
210 c AMY069 Amyotrophic Lateral Sclerosis 21 41
211 c AMY083 Amyotrophic Lateral Sclerosis 11 38
212 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 38
213 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 37
214 c AMY059 Amyotrophic Lateral Sclerosis 19 37
215 c AMY088 Amyotrophic Lateral Sclerosis 3 36
216 WCK001 Wieacker-Wolff Syndrome 36
217 c AMY062 Amyotrophic Lateral Sclerosis 12 34
218 c AMY089 Amyotrophic Lateral Sclerosis 7 33
219 c AMY019 Amyotrophic Lateral Sclerosis Type 10 33
220 c AMY063 Amyotrophic Lateral Sclerosis 20 31
221 CRN033 Cranial Nerve Malignant Neoplasm 31
222 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 31
223 c AMY055 Amyotrophic Lateral Sclerosis 17 30
224 c AMY022 Amyotrophic Lateral Sclerosis Type 5 28
225 c AMY074 Amyotrophic Lateral Sclerosis Type 14 25
226 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 23
227 c SD1001 Sod1-Related Amyotrophic Lateral Sclerosis 14
228 c VPB001 Vapb-Related Amyotrophic Lateral Sclerosis 13
229 c SPG004 Spg11-Related Amyotrophic Lateral Sclerosis 13
230 c TRD001 Tardbp-Related Amyotrophic Lateral Sclerosis 12
231 c STX001 Setx-Related Amyotrophic Lateral Sclerosis 11
232 c OPT036 Optn-Related Amyotrophic Lateral Sclerosis 10
233 c PFN001 Pfn1-Related Amyotrophic Lateral Sclerosis 10
234 c ATS028 Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis 10
235 c FG4001 Fig4-Related Amyotrophic Lateral Sclerosis 10
236 c FSR003 Fus-Related Amyotrophic Lateral Sclerosis 10
237 c HNR002 Hnrnpa1-Related Amyotrophic Lateral Sclerosis 10
238 c SQS001 Sqstm1-Related Amyotrophic Lateral Sclerosis 10
239 c ERB003 Erbb4-Related Amyotrophic Lateral Sclerosis 9
240 c SGM009 Sigmar1-Related Amyotrophic Lateral Sclerosis 9
241 c ANG036 Ang-Related Amyotrophic Lateral Sclerosis 8
242 c ANX009 Anxa11-Related Amyotrophic Lateral Sclerosis 7
243 P NRB001 Neuroblastoma 71
244 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 47
245 c MNT230 Mental Retardation, X-Linked Syndromic 5 42
246 RBF002 Riboflavin Transporter Deficiency Neuronopathy 12
247 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 34
248 NRC019 Neurocutaneous Melanosis, Somatic 32
249 MCL055 Mcleod Syndrome with or Without Chronic Granulomatous Disease 28
250 SCP005 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 20
251 P PLZ001 Pelizaeus-Merzbacher Disease 67
252 MSS001 Masa Syndrome 53
253 c PLZ002 Pelizaeus-Merzbacher-Like Disease 27
254 P ATX010 Ataxia Neuropathy Spectrum 27
255 SPL051 Split Spinal Cord Malformation 16
256 MTC057 Mitochondrial Recessive Ataxia Syndrome 50
257 c NRP022 Neuropathy, Distal Hereditary Motor, Type Viib 26
258 c HRD138 Hereditary Motor and Sensory Neuropathy V 25
259 P NRV006 Nervous System Cancer 59
260 MSC077 Muscle Eye Brain Disease 58
261 P GRS003 Griscelli Syndrome 54
262 c GRS013 Griscelli Syndrome, Type 1 48
263 c SPN366 Spinocerebellar Ataxia with Axonal Neuropathy Type 2 33
264 P HRD161 Hereditary Motor and Sensory Neuropathy Via 33
265 c NRF019 Neurofibromatosis, Type 2 62
266 c CHR530 Charcot-Marie-Tooth Disease, Type 2b 42
267 MLT075 Multifocal Motor Neuropathy 41
268 c CHR520 Charcot-Marie-Tooth Disease, Axonal, Type 2s 39
269 PCW002 Pcwh Syndrome 30
270 CMB026 Combined Oxidative Phosphorylation Deficiency 12 27
271 LKN010 Leukoencephalopathy with Dystonia and Motor Neuropathy 24
272 c CHR606 Charcot-Marie-Tooth Disease, Axonal, Type 2a2b 19
273 c FRT006 Fourth Cranial Nerve Palsy, Familial Congenital 16
274 SCH022 Schimke X-Linked Mental Retardation Syndrome 14
275 PCK002 Pick Disease 68
276 P MWT001 Mowat-Wilson Syndrome 48
277 c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 40
278 CWC001 Cowchock Syndrome 37
279 NRT001 Neurotic Disorder 36
280 c NRN025 Neuronopathy, Distal Hereditary Motor, Type Viia 25
281 c XLN042 X-Linked Mental Retardation 21 21
282 c MWT002 Mowat-Wilson Syndrome Due to Monosomy 2q22 8
283 c MWT004 Mowat-Wilson Syndrome Due to a Zeb2 Point Mutation 7
284 P CHR071 Charcot-Marie-Tooth Disease 67
285 ERY029 Erythermalgia, Primary 43
286 P CHR348 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 40
287 CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 39
288 HRD054 Hereditary Neuropathy with Liability to Pressure Palsy 34
289 SCP002 Scapuloperoneal Spinal Muscular Atrophy 29
290 FCL042 Facial Onset Sensory and Motor Neuronopathy 18
291 P GCH001 Gaucher's Disease 63
292 SPN186 Spinal Cord Injury 62
293 NRN004 Neuroendocrine Tumor 55
294 TXC002 Toxic Encephalopathy 50
295 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 50
296 c CRB103 Cerebral Cavernous Malformations-1 49
297 c GCH017 Gaucher Disease, Type Iii 47
298 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 43
299 MNT208 Mental Retardation, X-Linked Syndromic, Lubs Type 41
300 CNT019 Central Neurocytoma 41
301 SPR008 Supratentorial Primitive Neuroectodermal Tumor 41
302 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 37
303 c GCH013 Gaucher Disease, Type Iiic 29
304 c ADT007 Auditory Neuropathy, Autosomal Dominant, 1 29
305 CRP019 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia 26
306 c FML110 Familial Cerebral Cavernous Malformation 2 18
307 c CRB051 Cerebral Cavernous Malformation, Familial 16
308 c FML109 Familial Cerebral Cavernous Malformation 1 15
309 c FML111 Familial Cerebral Cavernous Malformation 3 15
310 VSC017 Visceral Neuropathy Familial 10
311 ALP025 Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 8
312 c PSD023 Pseudo-Gaucher Disease 8
313 c FML112 Familial Cerebral Cavernous Malformation 4 6
314 P MDL005 Medulloblastoma 73
315 c CHR536 Charcot-Marie-Tooth Disease, Type 1a 58
316 MNT054 Mental Retardation, X-Linked, Snyder-Robinson Type 41
317 BRN118 Brain Small Vessel Disease with or Without Ocular Anomalies 35
318 NRV004 Nerve Compression Syndrome 34
319 MNT231 Mental Retardation, X-Linked Syndromic, Nascimento-Type 27
320 c NRP019 Neuropathy, Distal Hereditary Motor, Type Iib 23
321 c NRN018 Neuronopathy, Distal Hereditary Motor, Type Iic 23
322 c NRP020 Neuropathy, Distal Hereditary Motor, Type Iia 21
323 ACC001 Accessory Nerve Disease 21
324 PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 17
325 HYP028 Hypoglossal Nerve Disease 16
326 c MDL025 Medulloblastoma, Ptch2-Related 9
327 c MDL011 Medulloblastoma, Sufu-Related 6
328 OPT037 Optic Nerve Hypoplasia 51
329 PRP021 Peripheral Nervous System Neoplasm 48
330 MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 44
331 MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 29
332 MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 28
333 c MNT143 Mental Retardation, Autosomal Dominant 13 25
334 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 24
335 PRM183 Primary Aldosteronism, Seizures, and Neurologic Abnormalities 24
336 ANG067 Angioma, Hereditary Neurocutaneous 20
337 VGS001 Vagus Nerve Disease 18
338 P ANR007 Anorexia Nervosa 60
339 c NMN013 Niemann-Pick Disease, Type a 58
340 MTR014 Motor Neuron Disease 56
341 NRM005 Neuromuscular Disease 55
342 MTR007 Motor Peripheral Neuropathy 37
343 c NMN014 Niemann-Pick Disease, Type C2 37
344 CRD161 Ceroid Lipofuscinosis, Neuronal, 13, Kufs Type 32
345 c DST027 Distal Hereditary Motor Neuropathy, Type Ii 30
346 c GNT027 Giant Axonal Neuropathy-1 30
347 CNG102 Congenital Hypomyelination Neuropathy 25
348 P MSC094 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies, Type a, 11 24
349 c NRN024 Neuronopathy, Distal Hereditary Motor, Type Vb 23
350 HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 23
351 c MNT292 Mental Retardation, X-Linked 1/78 19
352 PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 19
353 SPS197 Spastic Paraplegia with Neuropathy and Poikiloderma 14
354 RDL001 Radial Nerve Lesion 14
355 MCR046 Microcephaly Brain Defect Spasticity Hypernatremia 12
356 CLB014 Coloboma, Cleft Lip/palate and Mental Retardation Syndrome 7
357 HYP229 Hypospadias Mental Retardation Goldblatt Type 6
358 PLG005 Plagiocephaly and X-Linked Mental Retardation 5
359 ULN006 Ulna Hypoplasia with Mental Retardation 4
360 ANN002 Anencephaly 53
361 WDH003 Woodhouse-Sakati Syndrome 47
362 c HRD088 Hereditary Neuropathies 39
363 AMY086 Amyotrophy, Hereditary Neuralgic 32
364 CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 31
365 3MT017 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia 28
366 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 26
367 c NRP032 Neuropathy, Distal Hereditary Motor, Type Va 25
368 c DFN105 Deafness, X-Linked 5 25
369 c DFN194 Deafness, X-Linked 1 25
370 c DFN276 Deafness, X-Linked 6 23
371 c DFN147 Deafness, X-Linked 4 22
372 c MNT203 Mental Retardation, X-Linked 30/47 20
373 c MNT288 Mental Retardation, X-Linked 49/15 19
374 P XLN004 X-Linked Nonsyndromic Deafness 18
375 DFN305 Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy 15
376 c DFN186 Deafness, Y-Linked 1 11
377 c DFN146 Deafness, X-Linked 3 11
378 EPD066 Epidermoid Brain Tumor 8
379 DBT010 Diabetic Neuropathy 54
380 WRD025 Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement 46
381 MLN001 Melanotic Neuroectodermal Tumor 36
382 JHN004 Johnson Neuroectodermal Syndrome 28
383 MNT297 Mental Retardation, X-Linked, Syndromic 11, Shashi Type 19
384 OLF001 Olfactory Nerve Disease 19
385 NRP049 Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux 15
386 ADS006 Aids - Neurological Complications 12
387 P NRN021 Neuronal Ceroid Lipofuscinosis 61
388 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 61
389 c CHR527 Charcot-Marie-Tooth Disease, Type 1b 47
390 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 46
391 P INF016 Infantile Epileptic Encephalopathy 44
392 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 44
393 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 41
394 CRN031 Cranial Nerve Disease 41
395 GLL028 Gillespie Syndrome 39
396 OPT008 Optic Nerve Neoplasm 37
397 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 36
398 CRB024 Cerebral Neuroblastoma 36
399 c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 35
400 P ADT004 Auditory Neuropathy 35
401 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 34
402 P CNT037 Central Nervous System Germinoma 33
403 PRM284 Primitive Neuroectodermal Tumor of the Cervix Uteri 31
404 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 30
405 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 28
406 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 27
407 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 27
408 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 25
409 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 25
410 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 25
411 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 24
412 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 24
413 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 24
414 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 24
415 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 23
416 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 23
417 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 23
418 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 23
419 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 22
420 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 22
421 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 22
422 FVL005 Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 22
423 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 22
424 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 21
425 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21
426 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 21
427 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 21
428 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 21
429 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 20
430 RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 20
431 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 20
432 NRG006 Neurogenic Thoracic Outlet Syndrome 20
433 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 20
434 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 20
435 PRT015 Partial Third-Nerve Palsy 19
436 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 19
437 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 19
438 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 19
439 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 19
440 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 19
441 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 18
442 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 18
443 SPN350 Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration 18
444 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 17
445 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 17
446 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 17
447 HRD035 Hair Defect with Photosensitivity and Mental Retardation 17
448 SYN062 Syncope, Familial Vasovagal 17
449 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 17
450 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 16
451 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 16
452 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 16
453 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 16
454 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 15
455 SPS195 Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 14
456 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 13
457 LWG004 Low-Grade Neuroendocrine Tumor of the Corpus Uteri 11
458 RTN075 Retinopathy Pigmentary Mental Retardation 6
459 LPS008 Lupus - Neurological Sequelae 5
460 SCL026 Sclerosing Bone Dysplasia Mental Retardation 5
461 PNF001 Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus Syndrome 4
462 P INT030 Intracranial Aneurysm 53
463 TRM010 Traumatic Brain Injury 51
464 ATN002 Autonomic Nervous System Disease 48
465 NRF008 Neurofibromatosis-Noonan Syndrome 47
466 SNS003 Sensory Peripheral Neuropathy 46
467 CNT007 Central Nervous System Tuberculosis 45
468 c GCH016 Gaucher Disease, Type Ii 43
469 OLF005 Olfactory Neuroblastoma 43
470 NRN016 Neuronal Migration Disorders 42
471 c CHR535 Charcot-Marie-Tooth Disease, Type 1c 42
472 CNV002 Conversion Disorder 40
473 CRP017 Carpal Tunnel Syndrome, Familial 37
474 c CHR402 Charcot-Marie-Tooth Disease, Type 2a1 33
475 c CHR605 Charcot-Marie-Tooth Disease, Axonal, Type 2a2a 29
476 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 28
477 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 27
478 RLN002 Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia 25
479 c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 25
480 HRD162 Hereditary Motor and Sensory Neuropathy, Okinawa Type 24
481 NRS005 Neurosarcoidosis 23
482 c NRP039 Neuropathy, Hereditary Sensory, Type Id 23
483 c MNT249 Mental Retardation, X-Linked 12/35 22
484 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 22
485 c MNT296 Mental Retardation, X-Linked, Syndromic 34 22
486 MNT068 Mental Retardation, X-Linked, Fraxe Type 22
487 c NRN026 Neuronopathy, Distal Hereditary Motor, Type Iid 20
488 c MNT196 Mental Retardation, X-Linked 92 20
489 CRB092 Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 3 20
490 P MNT291 Mental Retardation, X-Linked 9/44 18
491 c INT097 Intracranial Aneurysms Multiple Congenital Anomaly 5
492 LYM055 Lyme Disease - Neurological Complications 5
493 c CNT035 Central Nervous System Disease 60
494 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 53
495 LGS001 Legius Syndrome 51
496 NRS003 Neurosyphilis 41
497 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 38
498 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 37
499 EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 34
500 c CHR526 Charcot-Marie-Tooth Disease, Type 2b1 34
501 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 33
502 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 33
503 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 32
504 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 32
505 TMP011 Temple-Baraitser Syndrome 31
506 c CHR538 Charcot-Marie-Tooth Disease, Type 2b2 31
507 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 30
508 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 30
509 SPN043 Spinal Cord Glioma 29
510 P MSC002 Muscular Dystrophy-Dystroglycanopathy 29
511 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 29
512 46X010 46xy Partial Gonadal Dysgenesis, with Minifascicular Neuropathy 28
513 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 28
514 CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 27
515 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 26
516 c NRP043 Neuropathy, Hereditary Motor and Sensory, Type Vib 24
517 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 24
518 PRN033 Paraneoplastic Neurologic Disorders 23
519 HMR018 Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 22
520 MCR123 Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy 21
521 c MSC096 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies, Type a, 8 19
522 SLW004 Slowed Nerve Conduction Velocity, Ad 19
523 c GNT040 Giant Axonal Neuropathy 2, Autosomal Dominant 19
524 TRC015 Trochlear Nerve Disease 13
525 CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 11
526 CL4005 Col4a1-Related Brain Small-Vessel Disease 5
527 CRV044 Cervical Hypertrichosis Peripheral Neuropathy 4
528 LYM017 Lyme Disease 62
529 P CTS001 Cutis Laxa 60
530 INT145 Intracranial Hemorrhage in Brain Cerebrovascular Malformations 43
531 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 42
532 NRN005 Neuronal Ceroid-Lipofuscinoses 41
533 PNC119 Pancreatic Neuroendocrine Tumor 40
534 P BRN035 Brain Stem Glioma 39
535 BRN005 Brain Glioblastoma Multiforme 39
536 c CTS008 Cutis Laxa, Autosomal Dominant 37
537 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 35
538 c HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 35
539 BRN036 Brain Stem Infarction 35
540 c CTS034 Cutis Laxa, Autosomal Recessive Type 1 33
541 c BRT038 Baraitser-Winter Syndrome 1 32
542 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 32
543 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30
544 TRS001 Tarsal Tunnel Syndrome 30
545 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 29
546 c CHR113 Charcot-Marie-Tooth Neuropathy Type 1 29
547 FLP001 Filippi Syndrome 29
548 c MNT198 Mental Retardation, X-Linked 98 29
549 c HYP441 Hyperphosphatasia with Mental Retardation Syndrome 1 29
550 NRG003 Neurogenic Arthropathy 28
551 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 28
552 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 27
553 ATS251 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 27
554 AMY005 Amyloid Neuropathy 26
555 c ACQ027 Acquired Cutis Laxa 26
556 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
557 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 25
558 c CTS041 Cutis Laxa, Autosomal Dominant 3 24
559 OCL003 Oculomotor Nerve Paralysis 24
560 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 24
561 c BRT039 Baraitser-Winter Syndrome 2 24
562 CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 23
563 P CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 22
564 c CTS031 Cutis Laxa, Autosomal Dominant 2 22
565 CHL057 Childhood Brain Stem Glioma 21
566 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 20
567 c ATP003 Atp6v0a2-Related Cutis Laxa 19
568 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 18
569 c EFM001 Efemp2-Related Cutis Laxa 16
570 CHR580 Choroid Plexus Calcification and Mental Retardation 16
571 MLG028 Malignant Neoplasm of Acoustic Nerve 15
572 SPS193 Spastic Paraplegia, Epilepsy, and Mental Retardation 14
573 ECT019 Ectodermal Dysplasia Mental Retardation Syndactyly 14
574 DFF020 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia 13
575 c LTB003 Ltbp4-Related Cutis Laxa 12
576 HGH030 High-Grade Neuroendocrine Carcinoma of the Cervix Uteri 12
577 SPN022 Spinal Cord Neuroblastoma 12
578 ACC004 Accessory Deep Peroneal Nerve 12
579 PLN002 Plantar Nerve Lesion 11
580 TMR014 Tumor of Cranial and Spinal Nerves 11
581 XLN174 X-Linked Non-Syndromic Sensorineural Deafness Type Dfn 11
582 c PYC002 Pycr1-Related Cutis Laxa 11
583 MLG073 Malignant Melanocytic Neoplasm of the Peripheral Nerve Sheath 10
584 c CHR304 Charcot-Marie-Tooth Neuropathy Type 2i/2j 10
585 TTL002 Total Third-Nerve Palsy 10
586 c FBL003 Fbln5-Related Cutis Laxa 9
587 c ELN002 Eln-Related Cutis Laxa 7
588 HGH029 High-Grade Neuroendocrine Carcinoma of the Corpus Uteri 7
589 MCR057 Microcephaly Seizures Mental Retardation Heart Disorders 5
590 PLY042 Polyneuropathy Mental Retardation Acromicria Premature Menopause 5
591 OPT030 Optic Nerve Hypoplasia, Familial Bilateral 4
592 ART040 Arthrogryposis Epileptic Seizures Migrational Brain Disorder 4
593 PTL006 Patella Hypoplasia Mental Retardation 3
594 MBS003 Moebius Axonal Neuropathy Hypogonadism 3
595 P NRV007 Nervous System Disease 70
596 BLM002 Bulimia Nervosa 51
597 BRN071 Brain Injury 50
598 SPN041 Spinal Cord Disease 46
599 NRL004 Neuroleptic Malignant Syndrome 40
600 c CHR534 Charcot-Marie-Tooth Disease, Type 1d 38
601 FMR003 Femoral Neuropathy 37
602 c CHR531 Charcot-Marie-Tooth Disease, Type 2d 36
603 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 35
604 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 31
605 ULN001 Ulnar Neuropathy 30
606 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 29
607 c TRC101 Trichothiodystrophy 4, Nonphotosensitive 29
608 c CHR485 Charcot-Marie-Tooth Disease, Type 2r 29
609 MTC058 Mitochondrial Dna Depletion Syndrome 6 29
610 TBS001 Tabes Dorsalis 28
611 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 28
612 CRT081 Cortical Dysplasia, Complex, with Other Brain Malformations 7 28
613 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 27
614 c NRP036 Neuropathy, Hereditary Sensory, Type if 26
615 CRT082 Cortical Dysplasia, Complex, with Other Brain Malformations 8 25
616 VST006 Vestibulocochlear Nerve Disease 25
617 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 24
618 P CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 23
619 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 23
620 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 23
621 CRD165 Ceroid Lipofuscinosis, Neuronal, Kufs Type, Adult Onset 22
622 c TRC103 Trichothiodystrophy 5, Nonphotosensitive 21
623 c HYP553 Hyperphosphatasia with Mental Retardation Syndrome 3 19
624 c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 19
625 c TRC117 Trichothiodystrophy 6, Nonphotosensitive 17
626 LCL011 Localized Hypertrophic Neuropathy 14
627 P ORT004 Orthostatic Intolerance 63
628 NRF007 Neurofibroma 58
629 P CNG411 Congenital Disorder of Glycosylation, Type in 48
630 c CNG415 Congenital Disorder of Glycosylation, Type Ia 48
631 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
632 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 41
633 NRN008 Neuronal Intranuclear Inclusion Disease 41
634 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
635 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
636 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 35
637 c CNG191 Congenital Disorder of Glycosylation, Type Iia 34
638 c CNG208 Congenital Disorder of Glycosylation, Type Iic 34
639 c NRP014 Neuropathy, Hereditary Sensory, with Spastic Paraplegia 33
640 BRK009 Birk-Barel Mental Retardation Dysmorphism Syndrome 33
641 c CNG197 Congenital Disorder of Glycosylation, Type Ih 33
642 c CNG195 Congenital Disorder of Glycosylation, Type Id 32
643 c CNG204 Congenital Disorder of Glycosylation, Type Iih 31
644 c CNG379 Congenital Disorder of Glycosylation, Type It 31
645 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
646 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
647 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
648 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
649 c CNG188 Congenital Disorder of Glycosylation, Type if 29
650 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 29
651 c CNG403 Congenital Disorder of Glycosylation, Type Ix 28
652 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
653 c CNG389 Congenital Disorder of Glycosylation, Type Iim 28
654 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
655 c CNG383 Congenital Disorder of Glycosylation, Type Iik 27
656 c CNG194 Congenital Disorder of Glycosylation, Type Ig 27
657 c ANR038 Anorexia Nervosa 1 27
658 c CNG190 Congenital Disorder of Glycosylation, Type Iib 27
659 MDR004 Madras Motor Neuron Disease 26
660 MNT053 Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 26
661 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
662 c CNG192 Congenital Disorder of Glycosylation, Type Ik 26
663 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
664 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 26
665 c CNG198 Congenital Disorder of Glycosylation, Type Il 26
666 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
667 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 25
668 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 25
669 c CNG185 Congenital Disorder of Glycosylation, Type Iig 25
670 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
671 SPN026 Spinal Cord Lymphoma 25
672 c CNG193 Congenital Disorder of Glycosylation, Type Ip 25
673 TTH004 Tethered Spinal Cord Syndrome 24
674 THR010 Third Cranial Nerve Disease 24
675 MNT139 Mental Retardation, X-Linked Syndromic, Turner Type 24
676 CNG382 Congenital Cataracts, Hearing Loss, and Neurodegeneration 23
677 c CNG207 Congenital Disorder of Glycosylation, Type Io 23
678 c CNG497 Congenital Disorder of Glycosylation, Type Iio 23
679 PRP075 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 23
680 c CNG203 Congenital Disorder of Glycosylation, Type Iii 23
681 c CNG386 Congenital Disorder of Glycosylation, Type Iu 22
682 c MNT155 Mental Retardation, Autosomal Recessive 2 22
683 MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 22
684 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 22
685 c CNG498 Congenital Disorder of Glycosylation, Type Iin 21
686 c CNG504 Congenital Disorder of Glycosylation, Type Iip 21
687 MNT119 Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency 21
688 c CNG378 Congenital Disorder of Glycosylation, Type Ir 20
689 MNT232 Mental Retardation, X-Linked Syndromic, Raymond Type 20
690 INF148 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 20
691 XLN134 X-Linked Intellectual Disability, Siderius Type 19
692 c CHR344 Chronic Orthostatic Intolerance 19
693 STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 18
694 c CNG500 Congenital Disorder of Glycosylation, Type 1aa 18
695 SPN337 Spoan Syndrome 18
696 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 17
697 c MNT200 Mental Retardation, X-Linked 97 16
698 NRD024 Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart 16
699 PNC065 Pinched Nerve 15
700 NRD026 Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies 15
701 CLN039 Cln4 Disease 15
702 KRK002 Karak Syndrome 14
703 NRD031 Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 13
704 BRN069 Brain and Spinal Tumors 12
705 c CNG088 Congenital Disorder of Glycosylation Type I/iix 9
706 ICH006 Ichthyosis Alopecia Eclabion Ectropion Mental Retardation 5
707 GTD002 Gatad2b-Associated Neurodevelopmental Disorder 4
708 PLT009 Pili Torti Developmental Delay Neurological Abnormalities 4
709 P MCR010 Microcephaly 58
710 c ATS275 Autosomal Recessive Primary Microcephaly 46
711 EPS004 Episodic Ataxia/myokymia Syndrome 45
712 P CRN035 Cranial Nerve Palsy 43
713 PLX002 Plexiform Neurofibroma 39
714 c PRM212 Primary Microcephaly 39
715 DYS006 Dysembryoplastic Neuroepithelial Tumor 34
716 c MLT009 Multiple Cranial Nerve Palsy 34
717 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 34
718 P BRN030 Brain Ependymoma 33
719 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 33
720 MLS013 Miles-Carpenter Syndrome 31
721 ABC001 Abcd Syndrome 30
722 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 29
723 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 29
724 P FRT001 Fourth Cranial Nerve Palsy 28
725 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 28
726 NRP048 Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration 28
727 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 28
728 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 27
729 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 27
730 TBL007 Tibial Neuropathy 27
731 MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 27
732 OLF004 Olfactory Nerve Neoplasm 27
733 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 27
734 c ATS004 Autosomal Dominant Microcephaly 26
735 c CHR115 Charcot-Marie-Tooth Neuropathy Type 2a 25
736 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 25
737 c MNT295 Mental Retardation, X-Linked, Syndromic 33 24
738 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 23
739 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 23
740 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 23
741 c MCR238 Microcephaly 7, Primary, Autosomal Recessive 23
742 c MCR269 Microcephaly 15, Primary, Autosomal Recessive 23
743 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 23
744 c MCR255 Microcephaly 9, Primary, Autosomal Recessive 23
745 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 23
746 SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 23
747 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 23
748 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 22
749 c CHR622 Charcot-Marie-Tooth Disease Type 2a2 22
750 CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 22
751 c MCR320 Microcephaly 17, Primary, Autosomal Recessive 22
752 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 22
753 CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 22
754 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 21
755 CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 21
756 CRT073 Cortical Dysplasia, Complex, with Other Brain Malformations 5 21
757 BRN049 Brain Tumor, Childhood 20
758 CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 20
759 HLL013 Hall-Riggs Mental Retardation Syndrome 20
760 SPN007 Spinal Cord Oligodendroglioma 20
761 ARM006 Armfield X-Linked Mental Retardation Syndrome 19
762 MNT038 Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 19
763 MRF017 Marfanoid Mental Retardation Syndrome, Autosomal 18
764 c PRM060 Primary Autosomal Recessive Microcephaly Type 2 18
765 PDT043 Pediatric Acute-Onset Neuropsychiatric Syndrome 18
766 NRD004 Neurodegeneration Due to Cerebral Folate Transport Deficiency 17
767 CNT029 Central Nervous System Endodermal Sinus Tumor 17
768 CRN032 Cranial Nerve Iii Tumor 17
769 PRM283 Primitive Neuroectodermal Tumor of the Corpus Uteri 16
770 SPN045 Spinal Cord Primitive Neuroectodermal Neoplasm 16
771 RCT005 Rectum Neuroendocrine Neoplasm 16
772 c ADL054 Adult Brain Stem Glioma 16
773 FLL034 Fallot Complex with Severe Mental and Growth Retardation 16
774 VGS002 Vagus Nerve Neoplasm 15
775 ADL035 Adult Spinal Cord Glioblastoma Multiforme 15
776 c DNM001 Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy 15
777 FCL002 Facial Nerve Neoplasm 15
778 LNG002 Lung Combined Large Cell Neuroendocrine Carcinoma 14
779 SPS194 Spastic Paresis, Glaucoma, and Mental Retardation 14
780 CTR029 Cataracts, Ataxia, Short Stature, and Mental Retardation 13
781 NRD028 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 13
782 IDP022 Idiopathic Spinal Cord Herniation 13
783 NRP046 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers 13
784 TRG004 Trigeminal Nerve Neoplasm 12
785 ATY030 Atypical Pantothenate Kinase-Associated Neurodegeneration 12
786 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 12
787 c CHR319 Charcot-Marie-Tooth Neuropathy X Type 4 12
788 CLS051 Classic Neuroendocrine Tumor of Appendix 11
789 NRV002 Nerve Fibre Bundle Defect 10
790 GLS002 Glossopharyngeal Nerve Neoplasm 10
791 VSC023 Vasculitis Syndromes of the Central and Peripheral Nervous Systems 10
792 SPN001 Spinal Accessory Nerve Neoplasm 9
793 CSY003 Coasy-Associated Neurodegeneration 9
794 DNM002 Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy 9
795 SYN081 Syndromic X-Linked Intellectual Disability Abidi Type 9
796 MNT260 Mental Retardation, X-Linked, Syndromic, Wilson-Turner Type 9
797 MLG027 Malignant Oculomotor Nerve Tumor 9
798 PST045 Post-Streptococcal Neurologic Disorders 7
799 HYP079 Hypoglossal Nerve Neoplasm 7
800 TRC009 Trochlear Nerve Neoplasm 7
801 NRL012 Neurological Manifestations of Pompe Disease 7
802 ABD001 Abducens Nerve Neoplasm 6
803 XLN023 X-Linked Mental Retardation Craniofacial Abnormal Microcephaly Club 6
804 P BNG037 Benign Angiitis of the Central Nervous System 5
805 c SYN019 Syndactyly Type 1 with Cataracts and Mental Retardation 5
806 DFN034 Deafness, Neurosensory, Autosomal Recessive 47 5
807 MCR032 Macrocephaly, Mental Retardation, Short Stature, Spastic Paraplegia and Cns Malformations 4
808 THM007 Thumb Stiff Brachydactyly Mental Retardation 4
809 ARN002 Arnold Stickler Bourne Syndrome 4
810 MCR038 Macrogyria, Pseudobulbar Palsy and Mental Retardation 3
811 PRR007 Perry Syndrome 58
812 RDC002 Radiculopathy 50
813 P GLM040 Glioma Susceptibility 1 48
814 OPT007 Optic Nerve Glioma 41
815 NRF003 Neurofibrosarcoma 41
816 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 41
817 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 39
818 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 38
819 NRM006 Neuromuscular Junction Disease 36
820 MTC061 Mitochondrial Dna Depletion Syndrome 1 36
821 LJN003 Lujan-Fryns Syndrome 34
822 BRC011 Brachial Plexus Neuropathy 34
823 c CHR528 Charcot-Marie-Tooth Disease, Type 2j 33
824 NRF016 Neurofibromatosis, Familial Spinal 33
825 P SPS008 Spastic Ataxia 33
826 GLT031 Glut1 Deficiency Syndrome 1, Infantile Onset, Severe 32
827 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 32
828 c NRB015 Neuroblastoma 2 32
829 VST001 Vestibular Neuronitis 30
830 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 30
831 c CHR529 Charcot-Marie-Tooth Disease, Type 2i 30
832 NRT011 Neurotrophic Keratopathy 30
833 c NRB014 Neuroblastoma 3 29
834 c SPS072 Spastic Ataxia 1, Autosomal Dominant 28
835 TRT002 Tertiary Neurosyphilis 26
836 c SPS212 Spastic Ataxia 5, Autosomal Recessive 26
837 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 26
838 SPR032 Superficial Siderosis of the Central Nervous System 26
839 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 26
840 MNN028 Mononeuropathy of the Median Nerve, Mild 25
841 c CHR419 Charcot-Marie-Tooth Disease, Recessive Intermediate, B 25
842 c SPS208 Spastic Ataxia 4, Autosomal Recessive 25
843 PDN001 Pudendal Neuralgia 24
844 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 24
845 c SPS142 Spastic Ataxia 2, Autosomal Recessive 23
846 c SPS136 Spastic Ataxia 3, Autosomal Recessive 23
847 LSN001 Lesion of Sciatic Nerve 23
848 KHR001 Kahrizi Syndrome 22
849 MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 20
850 PRT097 Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome 20
851 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 20
852 c GLM025 Glioma Susceptibility 2 20
853 c SPS191 Spastic Ataxia 7, Autosomal Dominant 19
854 c NRN027 Neuronopathy, Distal Hereditary Motor, Type I 18
855 c GLM043 Glioma Susceptibility 9 17
856 ANT066 Anterior Cutaneous Nerve Entrapment Syndrome 16
857 c MNT293 Mental Retardation 105 16
858 c SPS170 Spastic Ataxia 2 16
859 CMP082 Complex Cortical Dysplasia with Other Brain Malformations 15
860 MNT268 Mental Retardation, X-Linked, Syndromic, Borck Type 14
861 c SPS162 Spastic Ataxia 1 14
862 c SPS214 Spastic Ataxia 4 13
863 c GLM020 Glioma Susceptibility 5 13
864 c GLM019 Glioma Susceptibility 4 13
865 c GLM021 Glioma Susceptibility 6 13
866 SPN004 Spinal Cord Lipoma 13
867 c SPS171 Spastic Ataxia 5 13
868 c SPS163 Spastic Ataxia 3 12
869 c GLM022 Glioma Susceptibility 8 12
870 NRD030 Neurodegeneration, Childhood-Onset, with Brain Atrophy 12
871 c GLM038 Glioma Susceptibility 7 11
872 c SPS172 Spastic Ataxia 7 8
873 MDS014 Mediastinum Neuroblastoma 5
874 MTR033 Motor Sensory Neuropathy Type 1 Aplasia Cutis Congenita 3
875 P HNT016 Huntington Disease 76
876 c MLG068 Malignant Glioma 59
877 P GLM045 Glioma 59
878 P NRP001 Neuropathy 57
879 c SPN294 Spinocerebellar Ataxia 1 56
880 P SPN301 Spinocerebellar Ataxia 2 55
881 c SPN293 Spinocerebellar Ataxia 12 52
882 c SPN291 Spinocerebellar Ataxia 7 51
883 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 51
884 c SPN314 Spinocerebellar Ataxia 10 50
885 c SPN312 Spinocerebellar Ataxia 14 49
886 BRN032 Brain Glioma 48
887 c SPN296 Spinocerebellar Ataxia 17 47
888 c SPN309 Spinocerebellar Ataxia 6 47
889 SPN020 Spondylosis 46
890 c SPN305 Spinocerebellar Ataxia 11 44
891 c SPN290 Spinocerebellar Ataxia 15 44
892 c SPN100 Spinocerebellar Ataxia 27 44
893 c SPN308 Spinocerebellar Ataxia 28 44
894 P SPN042 Spinal Cord Ependymoma 43
895 MDL002 Medulloepithelioma 43
896 c SPN304 Spinocerebellar Ataxia 8 42
897 c SPN265 Spinocerebellar Ataxia 36 42
898 ATN004 Autonomic Neuropathy 42
899 ATN003 Autonomic Nervous System Neoplasm 41
900 c PNT036 Pontocerebellar Hypoplasia, Type 6 41
901 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40
902 BRN080 Brain Ischemia 40
903 c SPN103 Spinocerebellar Ataxia 31 39
904 c SPN097 Spinocerebellar Ataxia 23 38
905 P PNT019 Pontocerebellar Hypoplasia 38
906 c HNT004 Huntington Disease-Like 2 37
907 c PNT029 Pontocerebellar Hypoplasia Type 2d 36
908 c PNT034 Pontocerebellar Hypoplasia, Type 2e 36
909 MLG041 Malignant Triton Tumor 35
910 P GST047 Gastrointestinal Neuroendocrine Tumor 34
911 c SPN099 Spinocerebellar Ataxia 26 34
912 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 34
913 c SPN299 Spinocerebellar Ataxia 20 34
914 c PNT010 Pontocerebellar Hypoplasia Type 1 33
915 SPN185 Spinal Cord Infarction 33
916 c SPN095 Spinocerebellar Ataxia 19 33
917 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 33
918 c SPN266 Spinocerebellar Ataxia 35 32
919 P SCH017 Schindler Disease 32
920 c CHR407 Charcot-Marie-Tooth Disease, Type 4f 32
921 ASY002 Asymptomatic Neurosyphilis 31
922 c PNT037 Pontocerebellar Hypoplasia, Type 3 30
923 c PNT022 Pontocerebellar Hypoplasia Type 2a 30
924 c PNT013 Pontocerebellar Hypoplasia Type 4 30
925 c SPN104 Spinocerebellar Ataxia 34 30
926 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 30
927 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 30
928 c PNT018 Pontocerebellar Hypoplasia, Type 1b 30
929 c PNT017 Pontocerebellar Hypoplasia Type 1a 29
930 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 29
931 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 29
932 c SPN098 Spinocerebellar Ataxia 25 28
933 c PNT014 Pontocerebellar Hypoplasia Type 5 28
934 c BSL038 Basal Ganglia Calcification, Idiopathic, 1 28
935 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 28
936 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
937 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
938 c SPN286 Spinocerebellar Ataxia 40 27
939 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 26
940 c PNT032 Pontocerebellar Hypoplasia, Type 9 26
941 c SPN284 Spinocerebellar Ataxia 38 26
942 c PNT033 Pontocerebellar Hypoplasia, Type 10 26
943 c PNT020 Pontocerebellar Hypoplasia Type 2b 26
944 c HNT011 Huntington Disease-Like 3 26
945 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 26
946 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
947 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
948 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 25
949 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 25
950 c HNT010 Huntington Disease-Like 1 25
951 c MNT207 Mental Retardation, X-Linked, Syndromic 32 25
952 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 25
953 c SPN372 Spinocerebellar Ataxia 43 25
954 ART103 Arthrogryposis, Mental Retardation, and Seizures 25
955 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 25
956 c SPN247 Spinocerebellar Ataxia Type 19/22 24
957 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 24
958 HSD004 Hsd10 Mitochondrial Disease 24
959 c SPN102 Spinocerebellar Ataxia 30 23
960 c MNT209 Mental Retardation, Autosomal Dominant, 27 23
961 c SPN283 Spinocerebellar Ataxia 37 23
962 c SPN383 Spinocerebellar Ataxia 42 23
963 c PNT039 Pontocerebellar Hypoplasia, Type 7 23
964 c MNT150 Mental Retardation, Autosomal Recessive 15 23
965 c MNT210 Mental Retardation, Autosomal Recessive 42 23
966 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 23
967 c MNT169 Mental Retardation, Autosomal Recessive, 37 23
968 c PNT021 Pontocerebellar Hypoplasia Type 2c 23
969 c PNT035 Pontocerebellar Hypoplasia, Type 1c 23
970 P BSL035 Basal Ganglia Calcification, Idiopathic, 5 23
971 BRN007 Brain Oligodendroglioma 22
972 c CHR424 Charcot-Marie-Tooth Disease, Recessive Intermediate, a 22
973 PLY120 Polyglucosan Body Disease, Adult Form 22
974 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 22
975 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 21
976 c BSL039 Basal Ganglia Calcification, Idiopathic, 6 21
977 ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 20
978 c MNT154 Mental Retardation, Autosomal Recessive 14 20
979 c PNT042 Pontocerebellar Hypoplasia, Type 2f 20
980 c SPN323 Spinocerebellar Ataxia 41 20
981 c JVN015 Juvenile Huntington Disease 20
982 c BSL032 Basal Ganglia Calcification, Idiopathic, 4 19
983 c MNT151 Mental Retardation, Autosomal Recessive 18 19
984 c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 18
985 c SPN259 Spinocerebellar Ataxia 32 18
986 c SPN107 Spinocerebellar Ataxia 9 17
987 ENC047 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 17
988 ALP035 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 17
989 c SPN336 Spinocerebellar Ataxia Type 16 16
990 c MNT276 Mental Retardation, Autosomal Recessive, 52 16
991 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 16
992 ENC046 Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy 15
993 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 15
994 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 14
995 c NRN030 Neuronal Ceroid Lipofuscinosis 4a 13
996 c BSL031 Basal Ganglia Calcification, Idiopathic, 2 11
997 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 10
998 c HNT013 Huntington Disease-Like Syndrome 10
999 SCR027 Sacral Nerve Root Cysts 10
1000 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 9
1001 c HNT014 Huntington Disease-Like Syndrome Due to C9orf72 Expansions 8
1002 c GRD008 Grid2-Related Spinocerebellar Ataxia 8
1003 c TSN001 Tsen2-Related Pontocerebellar Hypoplasia 8
1004 c TSN002 Tsen34-Related Pontocerebellar Hypoplasia 8
1005 CLP007 Clpb Deficiency 7
1006 NRL011 Neurological Consequences of Cytomegalovirus Infection 6
1007 BRN004 Brain Edema 51
1008 c TRC102 Trichothiodystrophy 1, Photosensitive 50
1009 GLM004 Gliomatosis Cerebri 49
1010 NRM004 Neuroma 46
1011 ISC002 Ischemic Optic Neuropathy 44
1012 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 42
1013 CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 42
1014 SPN018 Spinal Cord Astrocytoma 41
1015 DBT002 Diabetic Autonomic Neuropathy 40
1016 c CNG031 Congenital Nervous System Abnormality 39
1017 SML004 Small Intestine Neuroendocrine Neoplasm 38
1018 P NRX001 Neuroaxonal Dystrophy 38
1019 P CHR102 Charcot-Marie-Tooth Neuropathy 37
1020 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 34
1021 BRN031 Brain Germinoma 33
1022 BRN011 Brain Stem Astrocytic Neoplasm 33
1023 CNT041 Central Nervous System Melanocytic Neoplasm 33
1024 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 33
1025 SLV005 Silver Spastic Paraplegia Syndrome 33
1026 c CHR374 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 3 33
1027 PRN016 Peroneal Neuropathy 33
1028 GST004 Gastric Neuroendocrine Neoplasm 32
1029 ISC001 Ischemic Neuropathy 32
1030 NNT033 Neonatal Hypoxic and Ischemic Brain Injury 30
1031 c SNS009 Sensory Neuropathy Type 1 30
1032 P CNT044 Central Nervous System Primitive Neuroectodermal Neoplasm 30
1033 BRN021 Brain Sarcoma 30
1034 c CHR373 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2 29
1035 EPT008 Epithelioid Malignant Peripheral Nerve Sheath Tumor 29
1036 P CNT093 Central Nervous System Teratoma 29
1037 EPL143 Epilepsy, Progressive Myoclonic 3, with or Without Intracellular Inclusions 27
1038 HNM002 Hinman Syndrome 27
1039 c CHR316 Charcot-Marie-Tooth Neuropathy X 26
1040 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 26
1041 c MNT144 Mental Retardation, Autosomal Dominant 6 25
1042 SMT020 Smith-Kingsmore Syndrome 25
1043 GMS002 Gms Syndrome 25
1044 c CFF010 Coffin-Siris Syndrome 3 25
1045 NRS001 Neuroschistosomiasis 24
1046 BRS005 Breast Neuroendocrine Neoplasm 24
1047 OVR005 Ovarian Large-Cell Neuroendocrine Carcinoma 24
1048 EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 24
1049 NRC007 Neuroectodermal Endocrine Syndrome 23
1050 P DST003 Distal Hereditary Motor Neuropathy 23
1051 ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 23
1052 c CFF006 Coffin-Siris Syndrome 5 21
1053 PRN008 Peroneal Nerve Paralysis 21
1054 c NRB012 Neuroblastoma 5 21
1055 AKL001 Au-Kline Syndrome 20
1056 MTR078 Motor Neuropathy, Peripheral, with Dysautonomia 20
1057 c MNT270 Mental Retardation, Autosomal Recessive 53 20
1058 c MNT191 Mental Retardation, X-Linked, Syndromic 17 20
1059 MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 20
1060 c MNT262 Mental Retardation, Autosomal Dominant 42 20
1061 CLN014 Colon Neuroendocrine Neoplasm 19
1062 ULN002 Ulnar Nerve Lesion 19
1063 c NRB011 Neuroblastoma 4 19
1064 MNN005 Meningovascular Neurosyphilis 19
1065 c NRB013 Neuroblastoma 6 19
1066 c TRC100 Trichothiodystrophy 3, Photosensitive 19
1067 SPN025 Spinal Cord Melanoma 18
1068 c INF044 Infantile Axonal Neuropathy 18
1069 c MNT204 Mental Retardation, X-Linked 23 18
1070 P TRC099 Trichothiodystrophy 2, Photosensitive 18
1071 PRS017 Prostate Neuroendocrine Neoplasm 18
1072 ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 18
1073 c ADL022 Adult Central Nervous System Primitive Neuroectodermal Neoplasm 17
1074 BNP001 Bone Peripheral Neuroepithelioma 17
1075 ADL021 Adult Brainstem Gliosarcoma 17
1076 MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 17
1077 CRN268 Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis 17
1078 ANL010 Anal Neuroendocrine Tumor 17
1079 ESP009 Esophageal Neuroendocrine Tumor 17
1080 CHL022 Childhood Central Nervous System Primitive Neuroectodermal Neoplasm 16
1081 CHL055 Childhood Germ Cell Brain Tumor 16
1082 LKN024 Leukoencephalopathy, Brain Calcifications, and Cysts 16
1083 SFT001 Soft Tissue Peripheral Neuroepithelioma 16
1084 LRY013 Laryngeal Neuroendocrine Tumor 16
1085 PBL004 Piebald Trait with Neurologic Defects 16
1086 NRN031 Neuroendocrine Tumor of the Appendix 16
1087 CHL017 Childhood Brain Meningioma 16
1088 BRN023 Brain Stem Ependymoma 16
1089 LJN002 Lujan Syndrome 16
1090 c ADL036 Adult Central Nervous System Germinoma 16
1091 MNT283 Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly 16
1092 ADL003 Adult Brainstem Mixed Glioma 16
1093 c ADL055 Adult Central Nervous System Teratoma 16
1094 P ADL024 Adult Central Nervous System Choriocarcinoma 16
1095 NSL005 Nasal Cavity Olfactory Neuroblastoma 15
1096 YLK002 Yolk Sac Tumor of Central Nervous System 15
1097 CHL003 Childhood Spinal Cord Tumor 15
1098 c ADL007 Adult Central Nervous System Embryonal Carcinoma 15
1099 ILL008 Ileal Neuroendocrine Tumor 15
1100 c CHR120 Charcot-Marie-Tooth Neuropathy X Type 1 15
1101 SPN024 Spinal Cord Sarcoma 15
1102 RNL088 Renal Cell Carcinoma Associated with Neuroblastoma 15
1103 MNT030 Mental Retardation Syndrome, Belgian Type 15
1104 CNG457 Congenital Oculomotor Nerve Palsy 14
1105 IDP004 Idiopathic Peripheral Autonomic Neuropathy 14
1106 VSC048 Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome 14
1107 P NNP004 Nonphotosensitive Trichothiodystrophy 14
1108 CHL051 Childhood Brain Germinoma 14
1109 c MNT202 Mental Retardation, X-Linked 53 13
1110 c ATS261 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 13
1111 HRD059 Hereditary Peripheral Nervous Disorder 13
1112 OCL024 Ocular Neuromyotonia 13
1113 NRF006 Neurofibroma of the Heart 13
1114 HYP687 Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy 12
1115 SPR039 Supratentorial Primitive Neuroectodermal Tumors, Childhood 12
1116 c CSF001 Csf1r-Related Hereditary Diffuse Leukoencephalopathy with Spheroids 12
1117 BLM005 Bulimia Nervosa, Age of Onset of Weight Loss in 12
1118 c CHR624 Charcot-Marie-Tooth Disease Type 2b5 12
1119 NRP047 Neuropathy, Hereditary Thermosensitive 11
1120 PRS121 Prostate Cancer/brain Cancer Susceptibility, Somatic 11
1121 OVR004 Ovary Neuroendocrine Neoplasm 11
1122 NRV001 Nerve Root Neoplasm 11
1123 SLC019 Slc9a6-Related Syndromic Mental Retardation 11
1124 c CHR116 Charcot-Marie-Tooth Neuropathy Type 2e/1f 11
1125 c GDP002 Gdap1-Related Intermediate Charcot-Marie-Tooth Neuropathy 11
1126 PLY113 Polyneuropathy Associated with Igm Monoclonal Gammapathy with Anti-Mag 11
1127 c SVR017 Severe Infantile Axonal Neuropathy 11
1128 CRN099 Craniosynostosis Mental Retardation Clefting Syndrome 11
1129 c PMP012 Pmp2-Related Charcot-Marie-Tooth Disease Type 1 10
1130 NRN034 Neuroendocrine Tumor of the Anal Canal 10
1131 P FTL014 Fetal Brain Disruption Sequence 10
1132 CTS013 Cutis Verticis Gyrata Mental Deficiency 10
1133 SPS050 Spasticity Mental Retardation 10
1134 MCR098 Microcephaly, Cortical Malformations, and Mental Retardation 10
1135 NRP006 Neuropathy, Congenital, with Arthrogryposis Multiplex 10
1136 MNT060 Mental Retardation, X-Linked, with Short Stature, Small Testes, Muscle Wasting, and Tremor 10
1137 NRF001 Neurofibroma of Spinal Cord 9
1138 CNG362 Congenital Trochlear Nerve Palsy 9
1139 c CNG446 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type a 10 9
1140 c CNG447 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type a 12 9
1141 ALZ007 Alzheimer's Disease Without Neurofibrillary Tangles 9
1142 INT252 Intestinal Neuroendocrine Benign Tumor 8
1143 BRN025 Brainstem Intraparenchymal Clear Cell Meningioma 8
1144 c CNG449 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type a 14 8
1145 SNL005 Senile Degeneration of Brain 8
1146 BRN020 Brain Stem Angioblastoma 8
1147 c NLG002 Nlgn4x-Related X-Linked Mental Retardation 7
1148 KCN019 Kcnk9 Imprinting Syndrome 7
1149 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 7
1150 CNG458 Congenital Abducens Nerve Palsy 7
1151 MLG125 Malignant Mediastinal Neurogenic Neoplasm 7
1152 ATM073 Autoimmune-Related Retinopathy and Optic Neuropathy 7
1153 HRD181 Hereditary Neuroendocrine Tumor of Small Intestine 7
1154 JJN009 Jejunal Neuroendocrine Tumor 7
1155 c CNG448 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type a 13 7
1156 SPN003 Spinal Cord Dermoid Cyst 6
1157 c SMR003 Smarca4-Related Coffin-Siris Syndrome 6
1158 c SMR004 Smarcb1-Related Coffin-Siris Syndrome 6
1159 c SMR005 Smarce1-Related Coffin-Siris Syndrome 6
1160 BLT005 Bilateral Meningioma of Optic Nerve 6
1161 5Q2001 5q22 Deletion Syndrome 6
1162 c GDP003 Gdap1-Related Hereditary Motor and Sensory Neuropathy 6
1163 INF155 Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome 6
1164 CRV019 Cervical Spinal Canal and Spinal Cord Meningioma 6
1165 LMB007 Lumbar Spinal Canal and Spinal Cord Meningioma 6
1166 c MLT014 Multiple Spinal Canal and Spinal Cord Meningioma 6
1167 SCR007 Sacral Spinal Canal and Spinal Cord Meningioma 6
1168 THR008 Thoracic Spinal Canal and Spinal Cord Meningioma 6
1169 NRF005 Neurofibroma of Gallbladder 6
1170 CHL005 Childhood Mediastinal Neurogenic Tumor 5
1171 HYP234 Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 5
1172 P CHR574 Charcot-Marie-Tooth Neuropathy Dominant Intermediate E 5
1173 CLL024 Colloid Cysts of Third Ventricle 4
1174 BLR014 Bilirubin Induced Brain Injury in the Newborn 4
1175 MDS007 Mediastinum Neurofibroma 4
1176 SHR018 Short Stature Mental Retardation Eye Anomalies 4
1177 HRD105 Hereditary Sensorimotor Neuropathy with Hyperelastic Skin 4
1178 CRN091 Craniosynostosis Alopecia Brain Defect 4
1179 SPN084 Spinal Bulbar Motor Neuropathy 4
1180 DBT014 Diabetes Hypogonadism Deafness Mental Retardation 3
1181 SHR013 Short Stature Abnormal Skin Pigmentation Mental Retardation 3
1182 NRV003 Nervous System Hibernoma 3
1183 CRN079 Craniodigital Syndrome Mental Retardation 3
1184 CRN090 Craniostenosis with Congenital Heart Disease Mental Retardation 3
1185 CRN100 Craniosynostosis Mental Retardation Heart Defects 3
1186 MCR058 Microcephaly Sparse Hair Mental Retardation Seizures 3
1187 CNG099 Congenital Heart Disease Radio Ulnar Synostosis Mental Retardation 3
1188 PRT057 Proteus Like Syndrome Mental Retardation Eye Defect 3
1189 PTR009 Pterygium Colli Mental Retardation Digital Anomalies 3
1190 DFN009 Deafness Hyperuricemia Neurologic Ataxia 3
1191 RTN074 Retinopathy Aplastic Anemia Neurological Abnormalities 3
1192 CRN059 Corneal Anesthesia Deafness Mental Retardation 3
1193 LKM007 Leukomelanoderma Mental Redardation Hypotrichosis 3
1194 HPT029 Hepatic Fibrosis Renal Cysts Mental Retardation 3
1195 MYT010 Myotonia Mental Retardation Skeletal Anomalies 3
1196 SHL003 Shoulder Girdle Defect Mental Retardation Familial 3
1197 SCH026 Schizophrenia Mental Retardation Deafness Retinitis 3
1198 OST060 Osteosclerosis Abnormalities of Nervous System and Meninges 2
1199 CRY011 Cryptorchidism Arachnodactyly Mental Retardation 2
1200 CRT031 Cortical Blindness Mental Retardation Polydactyly 2
1201 CRN064 Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation 2
1202 DNN004 Duane Anomaly Mental Retardation 2
1203 DYS043 Dysmorphism Abnormal Vocalization Mental Retardation 2
1204 LRY023 Laryngeal Abductor Paralysis Mental Retardation 2
1205 MLT041 Multiple Congenital Anomalies Mental Retardation, Growth Failure and Cleft Lip Palate 2
1206 EPL007 Epilepsy Mental Deterioration Finnish Type 2
1207 GRW011 Growth Retardation Mental Retardation Phalangeal Hypoplasia 2
1208 CLF010 Cleft Lip Palate Mental Retardation Corneal Opacity 2
1209 OPT019 Opthalmoplegia Mental Retardation Lingua Scrotalis 2
1210 HYP183 Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features 2
1211 HYP201 Hypogonadism Mitral Valve Prolapse Mental Retardation 2
1212 HYP217 Hypoparathyroidism Short Stature Mental Retardation 2
1213 HYP233 Hypothyroidism Postaxial Polydactyly Mental Retardation 2
1214 SZR004 Seizures Mental Retardation Hair Dysplasia 2
1215 SPR026 Sparse Hair Ptosis Mental Retardation 2
1216 P SYN015 Syndactyly Cataract Mental Retardation 2
1217 STR027 Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 2
1218 PRC022 Pericardium Absent Mental Retardation Short Stature 2
1219 PTS005 Ptosis Coloboma Mental Retardation 2
1220 VTL003 Vitiligo Mental Retardation Facial Dysmorphism Uremia 2
1221 XLN024 X-Linked Mental Retardation De Silva Type 2
1222 XLN026 X-Linked Mental Retardation Type Martinez 2
1223 XLN027 X-Linked Mental Retardation Type Raynaud 2
1224 XLN028 X-Linked Mental Retardation Type Schutz 2
1225 DFN012 Deafness Mesenteric Diverticula of Small Bowel Neuropathy 2
1226 DFN018 Deafness Peripheral Neuropathy Arterial Disease 2
1227 DFN033 Deafness, Neurosensory Nonsyndromic Recessive, Dfn 2
1228 OST048 Osteopetrosis and Infantile Neuroaxonal Dystrophy 2
1229 FCL024 Focal or Multifocal Malformations in Neuronal Migration 2
1230 CHR279 Chronic Demyelinizing Neuropathy with Igm Monoclonal 2
1231 SPS043 Spastic Paraplegia and Distal Muscle Wasting Caused by Neuropathy Target Esterase Gene Mutation 2
1232 P ATX030 Ataxia-Telangiectasia 78
1233 OBS002 Obsessive-Compulsive Disorder 64
1234 P AST007 Astrocytoma 63
1235 P CRB102 Cerebral Cavernous Malformations-2 47
1236 c NMN016 Niemann-Pick Disease, Type B 43
1237 c CRB094 Cerebral Cavernous Malformations 3 41
1238 ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 41
1239 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 39
1240 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 39
1241 NRN002 Neuronitis 39
1242 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 37
1243 P BND018 Band Heterotopia 36
1244 c CHR533 Charcot-Marie-Tooth Disease, Type 1f 36
1245 FCL011 Facial Nerve Disease 35
1246 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 34
1247 GLS004 Glossopharyngeal Neuralgia 33
1248 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 33
1249 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 33
1250 c RBN021 Rubinstein-Taybi Syndrome 1 32
1251 MTB007 Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 29
1252 ALC011 Alcoholic Neuropathy 28
1253 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 28
1254 c RBN008 Rubinstein-Taybi Syndrome 2 28
1255 P ATS049 Autism Susceptibility, X-Linked 2 28
1256 FGS004 Fg Syndrome 4 27
1257 HRT037 Heart and Brain Malformation Syndrome 26
1258 P MNT158 Mental Retardation, Autosomal Dominant 22 26
1259 c MNT248 Mental Retardation, X-Linked 102 25
1260 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 25
1261 MTC055 Mitochondrial Dna Depletion Syndrome 4b 25
1262 P PRS124 Presynaptic Congenital Myasthenic Syndromes 25
1263 HRL006 Harel-Yoon Syndrome 25
1264 HYP269 Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency 24
1265 CRV067 Cervical Neuroblastoma 24
1266 RDL004 Radial Neuropathy 24
1267 HYP723 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 24
1268 SCH074 Schuurs-Hoeijmakers Syndrome 24
1269 c MNT157 Mental Retardation, Autosomal Dominant 18 23
1270 BLB005 Beaulieu-Boycott-Innes Syndrome 23
1271 c ATS044 Autism Susceptibility, X-Linked 3 22
1272 CHR349 Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis 22
1273 c MNT223 Mental Retardation, X-Linked 100 21
1274 c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 21
1275 c MNT224 Mental Retardation, X-Linked 101 21
1276 c MNT183 Mental Retardation, Autosomal Recessive 36 21
1277 c ATS048 Autism Susceptibility, X-Linked 1 21
1278 SPN267 Spinal Muscular Atrophy, Jokela Type 21
1279 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 21
1280 WHT019 White-Sutton Syndrome 21
1281 c CHR493 Charcot-Marie-Tooth Disease, Axonal, Type 20 20
1282 c JVN001 Juvenile Astrocytoma 20
1283 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 20
1284 GLS008 Glossopharyngeal Nerve Disease 19
1285 c MNT218 Mental Retardation, X-Linked 99 19
1286 c MNT267 Mental Retardation, X-Linked 104 19
1287 ACT181 Acute Motor Axonal Neuropathy 19
1288 c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 18
1289 c MNT273 Mental Retardation, Autosomal Dominant 44 17
1290 NRD023 Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language 17
1291 NRD029 Neurodevelopmental Disorder with Involuntary Movements 17
1292 c MNT271 Mental Retardation, X-Linked 61 17
1293 HYP646 Hypomagnesemia, Seizures, and Mental Retardation 16
1294 c MNT275 Mental Retardation, Autosomal Recessive 60 16
1295 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 16
1296 MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 15
1297 c MNT289 Mental Retardation, X-Linked 103 15
1298 c HYP593 Hyperphosphatasia with Mental Retardation Syndrome 5 15
1299 NRD027 Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset 14
1300 OKR001 Okur-Chung Neurodevelopmental Syndrome 14
1301 BCK018 Bickerstaff Brainstem Encephalitis 13
1302 P RBN007 Rubinstein Taybi Like Syndrome 9
1303 c EP3001 Ep300-Related Rubinstein-Taybi Syndrome 8
1304 c CRB084 Crebbp-Related Rubinstein-Taybi Syndrome 7
1305 c ATS043 Autism Susceptibility, X-Linked 4 5
1306 c FML049 Familial Band Heterotopia 3
1307 P INT063 Intellectual Disability 58
1308 P MTR004 Maturity-Onset Diabetes of the Young 57
1309 PST028 Post-Traumatic Stress Disorder 55
1310 CLF027 Cleft Palate, Isolated 52
1311 SMT006 Somatoform Disorder 51
1312 STL001 St. Louis Encephalitis 41
1313 c MTR071 Maturity-Onset Diabetes of the Young 6 37
1314 PLM039 Pulmonary Neuroendocrine Tumor 36
1315 TRG003 Trigeminal Nerve Disease 35
1316 DPR002 Depersonalization Disorder 34
1317 SLT014 Salt and Pepper Developmental Regression Syndrome 33
1318 STR045 Striatal Degeneration, Autosomal Dominant 31
1319 c NRV012 Nervous System Benign Neoplasm 30
1320 JWD001 Jawad Syndrome 29
1321 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 28
1322 c ATM089 Autoimmune Neuropathy 28
1323 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 28
1324 c ATM007 Autoimmune Disease of Central Nervous System 27
1325 c MNT185 Mental Retardation, Autosomal Dominant 7 27
1326 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 26
1327 MND023 Mend Syndrome 26
1328 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 25
1329 c MNT145 Mental Retardation, Autosomal Recessive 5 25
1330 c MTR073 Maturity-Onset Diabetes of the Young, Type Viii 25
1331 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 24
1332 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 24
1333 RTR023 Retroperitoneal Neuroblastoma 24
1334 OHD003 Ohdo Syndrome, X-Linked 24
1335 BRN127 Brain Malformations and Urinary Tract Defects 24
1336 c MNT242 Mental Retardation, Autosomal Dominant 40 24
1337 CMB002 Combat Disorder 24
1338 c CFF007 Coffin-Siris Syndrome 2 24
1339 c CFF009 Coffin-Siris Syndrome 4 24
1340 CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 23
1341 c MNT226 Mental Retardation, Autosomal Dominant 31 23
1342 c MNT246 Mental Retardation, Autosomal Dominant 38 23
1343 c MNT241 Mental Retardation, Autosomal Dominant 32 23
1344 c MNT212 Mental Retardation, Autosomal Dominant 26 23
1345 c MNT176 Mental Retardation, Autosomal Recessive 38 22
1346 c MNT213 Mental Retardation, Autosomal Recessive 40 22
1347 c MNT159 Mental Retardation, Autosomal Dominant 19 22
1348 c MNT222 Mental Retardation, Autosomal Dominant 29 22
1349 ELJ001 Elejalde Disease 22
1350 c MNT166 Mental Retardation, Autosomal Recessive 39 21
1351 c MNT216 Mental Retardation, Autosomal Recessive 41 21
1352 c MNT214 Mental Retardation, Autosomal Dominant 24 21
1353 c MNT227 Mental Retardation, Autosomal Recessive 46 21
1354 c MNT177 Mental Retardation, Autosomal Recessive 27 21
1355 c MTR070 Maturity-Onset Diabetes of the Young, Type Vii 21
1356 P HYP440 Hyperphosphatasia with Mental Retardation Syndrome 21
1357 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 21
1358 c MNT211 Mental Retardation, Autosomal Dominant 23 21
1359 c MNT179 Mental Retardation, Autosomal Dominant 21 20
1360 c MNT221 Mental Retardation, Autosomal Recessive 44 20
1361 c MNT239 Mental Retardation, Autosomal Dominant 35 20
1362 c MNT234 Mental Retardation, Autosomal Recessive 48 20
1363 TKN001 Takenouchi-Kosaki Syndrome 20
1364 c MNT238 Mental Retardation, Autosomal Dominant 34 20
1365 c MNT245 Mental Retardation, Autosomal Dominant 36 20
1366 c MNT219 Mental Retardation, Autosomal Dominant 30 20
1367 c MNT280 Mental Retardation, Autosomal Dominant 43 20
1368 c MTR072 Maturity-Onset Diabetes of the Young, Type Ix 19
1369 c MNT285 Mental Retardation, Autosomal Recessive 58 19
1370 ALC002 Alcohol-Related Neurodevelopmental Disorder 19
1371 c MNT195 Mental Retardation, X-Linked 96 19
1372 CLF050 Cleft Palate, Cardiac Defects, and Mental Retardation 19
1373 XGB001 Xia-Gibbs Syndrome 19
1374 c MNT236 Mental Retardation, Autosomal Dominant 39 18
1375 c MNT168 Mental Retardation, Autosomal Dominant 8 18
1376 c MNT244 Mental Retardation, Autosomal Recessive 49 18
1377 c MNT225 Mental Retardation, Autosomal Recessive 47 18
1378 c MNT197 Mental Retardation, X-Linked, Syndromic 9 18
1379 NRN029 Neuronal Intestinal Dysplasia 18
1380 c MNT220 Mental Retardation, Autosomal Recessive 45 18
1381 CRB158 Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 18
1382 c MNT240 Mental Retardation, Autosomal Dominant 33 18
1383 GNC005 Geniculate Ganglionitis 18
1384 c MNT215 Mental Retardation, Autosomal Recessive 43 18
1385 PRN028 Prion Disease with Protracted Course 17
1386 MNT118 Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 17
1387 c MNT287 Mental Retardation, Autosomal Recessive 57 17
1388 c MNT186 Mental Retardation, Autosomal Dominant 10 17
1389 c MNT243 Mental Retardation, Autosomal Recessive 50 17
1390 c MNT282 Mental Retardation, Autosomal Recessive 55 17
1391 c MNT184 Mental Retardation, Autosomal Dominant 11 16
1392 IMM146 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 16
1393 c MNT263 Mental Retardation, Autosomal Recessive 51 16
1394 c MNT272 Mental Retardation, Autosomal Dominant 41 16
1395 BRN116 Brain Stem Medulloblastoma 15
1396 c GNT045 Giant Axonal Neuropathy 2 15
1397 c MNT284 Mental Retardation, Autosomal Recessive 56 15
1398 EPL170 Epilepsy-Aphasia Spectrum 15
1399 c MNT277 Mental Retardation, Autosomal Recessive 54 15
1400 c MNT281 Mental Retardation, Autosomal Recessive 59 15
1401 CNT002 Central Nervous System Angiosarcoma 13
1402 INT311 Intellectual Developmental Disorder with Neuropsychiatric Features 12
1403 MNT107 Mental Retardation, Fra12a Type 12
1404 SML035 Small Intestine Carcinoid Neuroendocrine Tumor 11
1405 NRS002 Neuroaspergillosis 11
1406 ENC050 Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 11
1407 PRN006 Parenchymatous Neurosyphilis 11
1408 c CSK002 Cask-Related Intellectual Disability 10
1409 P ALP076 Alopecia-Mental Retardation Syndrome 1 9
1410 c SYN073 Syngap1-Related Intellectual Disability 8
1411 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 7
1412 c PPP001 Ppp2r5d-Related Intellectual Disability 7
1413 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 6
1414 c ATS348 Autosomal Dominant Intellectual Disability 30 6
1415 c TRR002 Trio-Related Intellectual Disability 6
1416 c ATS360 Autosomal Recessive Intellectual Disability 58 5
1417 SBN004 Sabinas Brittle Hair Syndrome 5
1418 c TBC003 Tbck-Related Intellectual Disability Syndrome 5
1419 c DDX001 Ddx3x-Related Intellectual Disability 4
1420 P OLG002 Oligodendroglioma 55
1421 P CNG001 Congenital Myasthenic Syndrome 54
1422 MNT002 Mental Depression 52
1423 P DBT005 Diabetes Insipidus 52
1424 P SYP003 Syphilis 51
1425 c ADL023 Adult Medulloblastoma 49
1426 CNT046 Central Nervous System Vasculitis 45
1427 c MYS051 Myasthenic Syndrome, Congenital, 5 45
1428 CRB033 Cerebral Degeneration 44
1429 CRB002 Cerebral Primitive Neuroectodermal Tumor 43
1430 P DMY001 Demyelinating Polyneuropathy 42
1431 c MYS052 Myasthenic Syndrome, Congenital, 10 42
1432 NRR001 Neuroretinitis 42
1433 c CHR283 Chronic Inflammatory Demyelinating Polyneuropathy 40
1434 c PRM022 Primary Syphilis 40
1435 c SCN006 Secondary Syphilis 39
1436 SCT001 Sciatic Neuropathy 38
1437 P CNT036 Central Nervous System Germ Cell Tumor 37
1438 P LRG014 Large Cell Neuroendocrine Carcinoma 37
1439 HYP016 Hypochondriasis 37
1440 c CNG033 Congenital Syphilis 37
1441 P AXN001 Axonal Neuropathy 36
1442 c MYS064 Myasthenic Syndrome, Congenital, 16 36
1443 OHD004 Ohdo Syndrome 36
1444 c SML034 Small Cell Neuroendocrine Carcinoma 36
1445 GRN006 Granulomatous Angiitis 36
1446 c ADL008 Adult Oligodendroglioma 34
1447 DFF012 Differentiating Neuroblastoma 34
1448 HGH001 High Pressure Neurological Syndrome 33
1449 MXD026 Mixed Glioma 33
1450 CKS001 Ck Syndrome 32
1451 WDS002 Woods Syndrome 32
1452 DRG004 Drug-Induced Mental Disorder 32
1453 P LTT001 Lattice Corneal Dystrophy 32
1454 NRD001 Neurodermatitis 32
1455 PLM038 Pulmonary Large Cell Neuroendocrine Carcinoma 32
1456 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 31
1457 PPL039 Papillary Glioneuronal Tumor 31
1458 ATY004 Atypical Neurofibroma 30
1459 BRN008 Brain Compression 30
1460 P GST100 Gastric Neuroendocrine Tumor 30
1461 ART110 Arteritic Anterior Ischemic Optic Neuropathy 30
1462 CLL006 Cellular Neurofibroma 30
1463 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 30
1464 TXC008 Toxic Optic Neuropathy 29
1465 c CRN236 Corneal Dystrophy, Lattice Type I 29
1466 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 29
1467 MDN002 Median Neuropathy 29
1468 ALC013 Alcohol-Induced Mental Disorder 28
1469 CNT023 Central Nervous System Hemangioma 28
1470 THY108 Thymic Neuroendocrine Tumor 28
1471 NRG001 Neurogenic Bowel 27
1472 INT022 Intracranial Primitive Neuroectodermal Tumor 27
1473 PRM205 Primary Hepatic Neuroendocrine Carcinoma 26
1474 NRG005 Neurogenic Hypertension 26
1475 c CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 25
1476 P NRB002 Neuroblastoma, Susceptibility 25
1477 HLS003 Helsmoortel-Van Der Aa Syndrome 25
1478 c GST091 Gastrointestinal Neuroendocrine Benign Tumor 24
1479 BRN034 Brain Meningioma 24
1480 c MYS056 Myasthenic Syndrome, Congenital, 17 24
1481 MGL033 Megalocornea-Mental Retardation Syndrome 24
1482 CNT043 Central Nervous System Organ Benign Neoplasm 24
1483 URM001 Uremic Neuropathy 24
1484 INF036 Inflammatory and Toxic Neuropathy 24
1485 c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 23
1486 MDR006 Moderate and Severe Traumatic Brain Injury 23
1487 c MYS065 Myasthenic Syndrome, Congenital, 18 22
1488 CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 22
1489 c MYS070 Myasthenic Syndrome, Congenital, 19 22
1490 c CRN160 Corneal Dystrophy, Lattice Type Iiia 22
1491 MNT014 Mental Retardation Epilepsy 22
1492 NNS032 Non-Syndromic X-Linked Intellectual Disability 22
1493 WLF012 Wolff Mental Retardation Syndrome 22
1494 DFF029 Diffuse Large B-Cell Lymphoma of the Central Nervous System 22
1495 P CHL106 Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter 22
1496 c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 22
1497 BRN027 Brain Angioma 21
1498 c HRD156 Hereditary Central Diabetes Insipidus 21
1499 FST001 Foster-Kennedy Syndrome 21
1500 c CHR139 Charcot-Marie-Tooth Disease Type 2c 21
1501 c ERL002 Early Congenital Syphilis 21
1502 EXT044 Extraventricular Neurocytoma 20
1503 c INT144 Intermediate Charcot-Marie-Tooth Neuropathy 20
1504 2Q3002 2q37 Microdeletion Syndrome 20
1505 CNT042 Central Nervous System Mesenchymal Non-Meningothelial Tumor 20
1506 c MNT194 Mental Retardation, X-Linked 50 20
1507 EXT024 Extracranial Neuroblastoma 20
1508 ATN001 Autonomic Peripheral Neuropathy 20
1509 c LTC001 Late Congenital Syphilis 19
1510 MNT257 Mental Retardation, X-Linked, with Craniofacial Dysmorphism 19
1511 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 19
1512 c MCR272 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 19
1513 SPN368 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 19
1514 CNT017 Central Nervous System Origin Vertigo 19
1515 MNT256 Mental Retardation, Buenos Aires Type 19
1516 c MNT181 Mental Retardation, Autosomal Recessive 35 19
1517 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 18
1518 MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 18
1519 P SPN039 Spinal Canal and Spinal Cord Meningioma 18
1520 HYP688 Hypospadias-Mental Retardation Syndrome 18
1521 c ACQ034 Acquired Central Diabetes Insipidus 18
1522 c MYS067 Myasthenic Syndrome, Congenital, 22 18
1523 MLT011 Multiple Mucosal Neuroma 18
1524 TBL027 Tubulinopathy-Associated Dysgyria 18
1525 c NRB016 Neuroblastoma 7 17
1526 SCL044 Scalp Syndrome 17
1527 ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 17
1528 PRT055 Prieto X-Linked Mental Retardation Syndrome 17
1529 MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 17
1530 ARL006 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 17
1531 BLP044 Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 17
1532 c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 17
1533 P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 17
1534 BRN112 Brain Dopamine-Serotonin Vesicular Transport Disease 16
1535 FXL001 Foix-Alajouanine Syndrome 16
1536 CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 16
1537 c CNT032 Central Nervous System Adult Germ Cell Tumor 16
1538 SDM003 Sodium Channelopathy-Related Small Fiber Neuropathy 16
1539 THY092 Thymic Neuroendocrine Carcinoma 16
1540 NRN023 Neuroendocrine Cell Hyperplasia of Infancy 16
1541 DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 16
1542 CNT021 Central Nervous System Rhabdomyosarcoma 16
1543 c CHR551 Charcot-Marie-Tooth Disease Type 2o 16
1544 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 16
1545 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 16
1546 LMB066 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 16
1547 MNT255 Mental Retardation and Psoriasis 16
1548 MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 16
1549 c MNT205 Mental Retardation, X-Linked 42 15
1550 CNT034 Central Nervous System Childhood Germ Cell Tumor 15
1551 RVN001 Ravine Syndrome 15
1552 ADL004 Adult Brainstem Astrocytoma 15
1553 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 15
1554 BRN122 Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome 15
1555 CHL053 Childhood Brainstem Astrocytoma 15
1556 ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 15
1557 c MNT163 Mental Retardation, Autosomal Recessive 30 15
1558 c ALD008 Aldh18a1-Related Cutis Laxa 15
1559 c ADL040 Adult Brain Ependymoma 15
1560 c MNT298 Mental Retardation, X-Linked, Syndromic, 35 15
1561 P MXD039 Mixed Germ Cell Tumor of Central Nervous System 15
1562 EPT006 Epithelioid Neurofibroma 15
1563 c MNT279 Mental Retardation, Autosomal Dominant 47 14
1564 PTR031 Pterygium Colli and Mental Retardation with Facial and Digital Anomalies 14
1565 ART029 Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 14
1566 ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 14
1567 c PRM211 Primary Familial Brain Calcification 5 14
1568 PRP018 Peripheral Nerve Schwannoma 14
1569 NRV005 Nerve Plexus Neoplasm 14
1570 CNT014 Central Nervous System Osteosarcoma 14
1571 c CHR121 Charcot-Marie-Tooth Neuropathy X Type 5 14
1572 c MNT160 Mental Retardation, Autosomal Recessive 31 14
1573 c MNT286 Mental Retardation, Autosomal Dominant 45 14
1574 c ADL029 Adult Central Nervous System Mixed Germ Cell Tumor 14
1575 c MNT172 Mental Retardation, Autosomal Recessive 25 14
1576 c MNT182 Mental Retardation, Autosomal Recessive 19 14
1577 PRD033 Periodic Paralysis with Later-Onset Distal Motor Neuropathy 14
1578 c MNT278 Mental Retardation, Autosomal Dominant 46 14
1579 c ADL041 Adult Spinal Cord Ependymoma 14
1580 NTR002 Nutritional Optic Neuropathy 14
1581 c MNT170 Mental Retardation, Autosomal Recessive 23 14
1582 c MNT165 Mental Retardation, Autosomal Recessive 28 14
1583 RJB001 Rajab Syndrome 14
1584 c MNT161 Mental Retardation, Autosomal Recessive 29 13
1585 c MNT167 Mental Retardation, Autosomal Recessive 16 13
1586 c MNT180 Mental Retardation, Autosomal Recessive 33 13
1587 MDD017 Middle Ear Neuroendocrine Tumor 13
1588 PLT021 Pili Torti and Developmental Delay 13
1589 c MNT162 Mental Retardation, Autosomal Recessive 24 13
1590 SPN347 Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 13
1591 c CHR571 Charcot-Marie-Tooth Disease Type 5 13
1592 ACT236 Acute Motor and Sensory Axonal Neuropathy 13
1593 c CHR550 Charcot-Marie-Tooth Disease Type 2n 13
1594 c SPR105 Sporadic Fetal Brain Disruption Sequence 13
1595 c CHR575 Charcot-Marie-Tooth Neuropathy X Type 6 13
1596 c MNT247 Mental Retardation, X-Linked 73 13
1597 CHL027 Childhood Central Nervous System Germinoma 13
1598 CHL046 Childhood Central Nervous System Mixed Germ Cell Tumor 13
1599 c CHR461 Choriocarcinoma of the Central Nervous System 13
1600 ABD008 Abidi X-Linked Mental Retardation Syndrome 13
1601 OPH013 Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency 13
1602 P CNT039 Central Nervous System Immature Teratoma 13
1603 c MNT294 Mental Retardation, X-Linked 106 13
1604 c CHR303 Charcot-Marie-Tooth Neuropathy Type 2h/2k 13
1605 ACT161 Acute Pandysautonomia 13
1606 MNT250 Mental Retardation with Spastic Paraplegia 12
1607 CRV015 Cervical Large Cell Neuroendocrine Carcinoma 12
1608 c ATP005 Atp7a-Related Distal Motor Neuropathy 12
1609 HYP671 Hypomyelination Neuropathy-Arthrogryposis Syndrome 12
1610 ACT162 Acute Sensory Ataxic Neuropathy 12
1611 ULN022 Ulnar Hypoplasia with Mental Retardation 12
1612 c PRM246 Primary Tethered Cord Syndrome 12
1613 GLL034 Gallbladder Neuroendocrine Tumor 12
1614 CNT027 Central Nervous System Fibrosarcoma 12
1615 CNT030 Central Nervous System Leiomyosarcoma 12
1616 EXT008 Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor 12
1617 INF124 Infundibulo-Neurohypophysitis 12
1618 ASY004 Asymmetric Motor Neuropathy 12
1619 CNT013 Central Nervous System Leiomyoma 12
1620 SLC018 Slc6a8-Related Creatine Transporter Deficiency 12
1621 P CNT040 Central Nervous System Mature Teratoma 12
1622 XLN204 X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome 12
1623 MBS006 Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 12
1624 ACT235 Acute Macular Neuroretinopathy 12
1625 BRS024 Breast Large Cell Neuroendocrine Carcinoma 12
1626 c HRD081 Hereditary Sensory and Autonomic Neuropathy Type Iic 12
1627 MYP122 Myopathy, Congenital, with Neuropathy and Deafness 11
1628 c FML335 Familial Gastric Type 1 Neuroendocrine Tumor 11
1629 SYB002 Say-Barber-Biesecker Variant of Ohdo Syndrome 11
1630 c DST092 Distal Hereditary Motor Neuropathy Type 7 11
1631 MLG057 Malignant Cardiac Peripheral Nerve Sheath Neoplasm 11
1632 PRP020 Peripheral Nervous System Ganglioneuroblastoma 11
1633 c CHR553 Charcot-Marie-Tooth Disease Type 2q 11
1634 NRD025 Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations 11
1635 c CHR315 Charcot-Marie-Tooth Neuropathy Type 4j 11
1636 NDL022 Nodular Neuronal Heterotopia 11
1637 NRP028 Neuropathy with Hearing Impairment 10
1638 NRL001 Neurilemmoma of the Fifth Cranial Nerve 10
1639 c CHR323 Chrna1-Related Congenital Myasthenic Syndrome 10
1640 c ADL012 Adult Central Nervous System Immature Teratoma 10
1641 c CHR318 Charcot-Marie-Tooth Neuropathy X Type 3 10
1642 c SBC037 Subacute Inflammatory Demyelinating Polyneuropathy 10
1643 XLN092 X-Linked Neurodegenerative Syndrome, Bertini Type 10
1644 PRP089 Prp Systemic Amyloidosis 10
1645 c SYT001 Syt2-Related Congenital Myasthenic Syndrome 10
1646 CHL019 Childhood Central Nervous System Immature Teratoma 10
1647 CHL047 Childhood Central Nervous System Mature Teratoma 10
1648 ICH057 Ichthyosis, Spastic Qudraplegia and Mental Retardation 10
1649 GRS004 Gars-Associated Axonal Neuropathy 10
1650 c PRP048 Prps1-Related Charcot-Marie-Tooth Neuropathy X Type 5 9
1651 c DST026 Distal Spinal Muscular Atrophy 4 9
1652 c ARD003 Arid1b-Related Coffin-Siris Syndrome 9
1653 c ADL011 Adult Central Nervous System Mature Teratoma 9
1654 XLN091 X-Linked Neurodegenerative Syndrome, Hamel Type 9
1655 c HRD063 Hereditary Type 2 Neuropathy 9
1656 CMM002 Common Peroneal Nerve Lesion 9
1657 SPN344 Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 9
1658 c CHR313 Charcot-Marie-Tooth Neuropathy Type 4f 9
1659 c CHR317 Charcot-Marie-Tooth Neuropathy X Type 2 9
1660 c ARD002 Arid1a-Related Coffin-Siris Syndrome 9
1661 c ALP075 Alopecia-Mental Retardation Syndrome 2 9
1662 MNT033 Mental Retardation X-Linked Dysmorphism 9
1663 TBL001 Tibial Nerve Palsy 9
1664 PLG008 Polg-Related Mitochondrial Dna Depletion Syndrome, Mngie Form 9
1665 c CL1006 Col13a1-Related Congenital Myasthenic Syndrome 9
1666 c SNP001 Snap25-Related Congenital Myasthenic Syndrome 9
1667 c AGR012 Agrn-Related Congenital Myasthenic Syndrome 9
1668 CLN041 Cln14 Disease 8
1669 WLL020 Well-Differentiated Thymic Neuroendocrine Carcinoma 8
1670 c ALP063 Alopecia-Mental Retardation Syndrome 3 8
1671 GLS003 Glossopharyngeal Nerve Paralysis 8
1672 EPL080 Epilepsy with Neurodevelopmental Defects 8
1673 HMN006 Hemangioma of Peripheral Nerve 8
1674 c CHR306 Charcot-Marie-Tooth Neuropathy Type 2n 8
1675 P NRP005 Neuropathy Sensory Spastic Paraplegia 8
1676 c CHR302 Charcot-Marie-Tooth Neuropathy Type 2g 8
1677 SPN002 Spinal Cord Intramedullary Teratoma 8
1678 OHD001 Ohdo Syndrome, Maat-Kievit-Brunner Type 8
1679 c CLQ001 Colq-Related Congenital Myasthenic Syndrome 8
1680 c MSK001 Musk-Related Congenital Myasthenic Syndrome 8
1681 c CHR307 Charcot-Marie-Tooth Neuropathy Type 2o 8
1682 c HRD062 Hereditary Type 1 Neuropathy 7
1683 c KRS002 Kars-Related Intermediate Charcot-Marie-Tooth Neuropathy 7
1684 c CHR305 Charcot-Marie-Tooth Neuropathy Type 2l 7
1685 NRD020 Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to 9q21 Microdeletion 7
1686 NRF004 Neurofibroma of the Esophagus 7
1687 MNT069 Mental Retardation with Language Impairment and Autistic Features 7
1688 MDR005 Moderately-Differentiated Thymic Neuroendocrine Carcinoma 7
1689 PRL043 Poorly Differentiated Thymic Neuroendocrine Carcinoma 7
1690 c FGD001 Fgd1-Related X-Linked Mental Retardation 7
1691 c SYP006 Syp-Related X-Linked Mental Retardation 7
1692 c ZNF002 Znf674-Related X-Linked Mental Retardation 7
1693 ATS077 Autosomal Dominant Optic Atrophy and Peripheral Neuropathy 7
1694 c CHR479 Charcot-Marie-Tooth Neuropathy Type 4b3 7
1695 PCN001 Pacinian Tumor 7
1696 TL2001 Telo2-Related Intellectual Disability-Neurodevelopmental Disorder 7
1697 MTC044 Mitochondrial Respiratory Chain Complex Iii Deficiency, Bcs1l-Related 6
1698 SCH001 Schwannoma of Twelfth Cranial Nerve 6
1699 NNT034 Neonatal Brainstem Dysfunction 6
1700 CRB010 Cerebellopontine Angle Primitive Neuroectodermal 6
1701 SVR052 Severe Early-Onset Axonal Neuropathy Due to Mfn2 Deficiency 6
1702 MNT059 Mental Retardation, X-Linked, with Growth Hormone Deficiency 6
1703 c CHT004 Chat-Related Congenital Myasthenic Syndrome 6
1704 c CHR327 Chrnb1-Related Congenital Myasthenic Syndrome 6
1705 c CHR329 Chrnd-Related Congenital Myasthenic Syndrome 6
1706 c CHR331 Chrne-Related Congenital Myasthenic Syndrome 6
1707 c DK7001 Dok7-Related Congenital Myasthenic Syndrome 6
1708 c GFP001 Gfpt1-Related Congenital Myasthenic Syndrome 6
1709 c RPS001 Rapsn-Related Congenital Myasthenic Syndrome 6
1710 c SCN019 Scn4a-Related Congenital Myasthenic Syndrome 6
1711 INF132 Infantile Osteopetrosis with Neuroaxonal Dysplasia 6
1712 c CNG487 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type a 6 6
1713 HRD175 Hereditary Motor and Sensory Neuropathy with Acrodystrophy 6
1714 c PLK002 Plekhg5-Related Intermediate Charcot-Marie-Tooth Neuropathy C 6
1715 CMB029 Combined Hyperactive Dysfunction Syndrome of the Cranial Nerves 6
1716 RST022 Rosette-Forming Glioneuronal Tumor of Fourth Ventricule 6
1717 ERL048 Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome 6
1718 c ALK004 Alk-Related Neuroblastoma Susceptibility 6
1719 c ATS030 Autosomal Recessive Sensory Neuropathy with Spastic Paraplegia 6
1720 CLN040 Cln12 Disease 6
1721 c CHR558 Charcot-Marie-Tooth Neuropathy Dominant Intermediate F 6
1722 c CHR559 Charcot-Marie-Tooth Neuropathy Recessive Intermediate D 6
1723 c MCR282 Microcephaly and Chorioretinopathy 1 6
1724 c MCR283 Microcephaly and Chorioretinopathy 2 6
1725 c MCR284 Microcephaly and Chorioretinopathy 3 6
1726 MLG015 Malignant Melanocytic Peripheral Nerve Sheath Tumor of Mediastinum 5
1727 EXT057 Extensive Peripapillary Myelinated Nerve Fibers 5
1728 MNT261 Mental Retsrdation, X-Linked Syndromic, Female Restricted 5
1729 ACT163 Acute Pure Sensory Neuropathy 5
1730 NRH002 Neurohypophysis Granular Cell Tumor 5
1731 NRT003 Neurotrophic Keratoconjunctivitis 5
1732 CNT012 Central Nervous System Chondroma 5
1733 FBL015 Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome 5
1734 INF150 Infantile Spams-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome 5
1735 MNT039 Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 5
1736 FTL051 Fatal Post-Viral Neurodegenerative Disorder 5
1737 HPT062 Hepatic Failure, Early-Onset, and Neurologic Disorder Due to Cytochrome C Oxidase Deficiency 5
1738 NNP016 Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy 5
1739 PRK068 Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments 5
1740 CNT103 Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome 5
1741 LGH018 Leigh-Like Basal Ganglia Disease-Optic Atrophy-Peripheral Neuropathy Syndrome 4
1742 ATS093 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease with Neuropathic Pain 4
1743 CNG488 Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B 6 4
1744 GLB022 Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome 4
1745 GLS006 Glossopharyngeal Motor Neuropathy 4
1746 BSC002 Bscl2-Related Neurologic Disorders/seipinopathy 4
1747 CHR560 Chrna7-Related Disorders 4
1748 c TWN008 Twnk-Related Ataxia Neuropathy Spectrum Disorders 4
1749 c PLG006 Polg-Related Ataxia Neuropathy Spectrum Disorders 4
1750 MCR298 Microcephaly-Complex Motor and Sensory Axonal Neuropathy Syndrome 4
1751 ATS357 Autosomal Dominant Distal Axonal Motor Neuropathy-Myofibrillar Myopathy Syndrome 4
1752 NRG007 Neurogenic Palpebral Tumor 4
1753 c MCR048 Microcephaly Chorioretinopathy Recessive Form 4
1754 c MCR059 Microcephaly with Chorioretinopathy, Autosomal Dominant Form 4
1755 P CHR168 Chorioretinopathy Dominant Form Microcephaly 4
1756 c EF2001 Eif2b1-Related Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter 3
1757 c EF2002 Eif2b2-Related Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter 3
1758 c EF2003 Eif2b3-Related Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter 3
1759 c EF2004 Eif2b4-Related Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter 3
1760 c EF2005 Eif2b5-Related Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter 3
1761 MNT013 Mental Retardation Dysmorphism Hypogonadism Diabetes 3
1762 MNT037 Mental Retardation X-Linked, South African Type 3
1763 c KF1001 Kif1b-Related Neuroblastoma, Susceptibility 3
1764 c PHX002 Phox2b-Related Neuroblastoma, Susceptibility 3
1765 NNP015 Nonprogressive Cerebellar Atxia with Mental Retardation 3
1766 NRM007 Neuroma Biliary Tract 3
1767 MNT008 Mental Retardation Anophthalmia Craniosynostosis 2
1768 MNT011 Mental Retardation Cataracts Calcified Pinnae Myopathy 2
1769 MNT017 Mental Retardation Hip Luxation G6pd Variant 2
1770 MNT018 Mental Retardation Hypocupremia Hypobetalipoproteinemia 2
1771 MNT020 Mental Retardation Macrocephaly Coarse Facies Hypotonia 2
1772 MNT021 Mental Retardation Microcephaly Phalangeal Facial 2
1773 MNT022 Mental Retardation Microcephaly Unusual Facies 2
1774 MNT044 Mental Retardation-Polydactyly-Uncombable Hair 2
1775 P CHD006 Chd2-Related Neurodevelopmental Disorders 2
1776 c PRR032 Pura-Related Neurodevelopmental Disorders 2
1777 NRN007 Neuronal Interstitial Dysplasia 2
1778 ALK018 Alk-Related Neuroblastic Tumor Susceptibility 1
1779 ATP015 Atp1a3-Related Neurologic Disorders 1
1780 STR067 Stroke, Ischemic 72
1781 P SCH015 Schizophrenia 71
1782 P PRK057 Parkinson Disease, Late-Onset 68
1783 KPS004 Kaposi Sarcoma 67
1784 P HYD006 Hydrocephalus 66
1785 P MNN013 Meningitis 65
1786 P CWD001 Cowden Disease 65
1787 OBS061 Obstructive Sleep Apnea 65
1788 P EPL164 Epilepsy 65
1789 P AMY004 Amyloidosis 64
1790 P LPR003 Leprosy 63
1791 c MCP003 Mucopolysaccharidosis Vii 63
1792 CRB039 Cerebrovascular Disease 63
1793 c MCP024 Mucopolysaccharidosis Type Vi 61
1794 P ENC004 Encephalitis 61
1795 P DYS154 Dystonia 61
1796 c MCP004 Mucopolysaccharidosis Iv 60
1797 P IDP010 Idiopathic Generalized Epilepsy 58
1798 RHB003 Rhabdomyosarcoma 58
1799 CRT016 Carotid Artery Disease 56
1800 P MYS005 Myositis 56
1801 P LKD001 Leukodystrophy 56
1802 PLS011 Plasmacytoma 56
1803 c ALM001 Al Amyloidosis 56
1804 P GT001 Gout 55
1805 FCL014 Focal Epilepsy 55
1806 RLP002 Relapsing-Remitting Multiple Sclerosis 54
1807 P PLY019 Polyneuropathy 54
1808 SLP005 Sleep Disorder 54
1809 P CHL002 Childhood Absence Epilepsy 54
1810 P LTR001 Lateral Sclerosis 53
1811 DMY004 Demyelinating Disease 53
1812 MGL013 Megalencephaly 53
1813 HDC001 Headache 53
1814 ATY005 Atypical Teratoid Rhabdoid Tumor 53
1815 P SMP003 Simpson-Golabi-Behmel Syndrome 53
1816 TRN015 Transient Cerebral Ischemia 53
1817 P STR020 Strabismus 52
1818 P SPS003 Spastic Diplegia 52
1819 ART002 Arts Syndrome 52
1820 P CNT004 Centronuclear Myopathy 52
1821 MVM001 Movement Disease 52
1822 c PRK031 Parkinson Disease 1 51
1823 c VRL007 Viral Encephalitis 51
1824 c CWD006 Cowden Syndrome 1 51
1825 NRT004 Neuritis 51
1826 QDR001 Quadriplegia 51
1827 TRP002 Tropical Spastic Paraparesis 50
1828 MSC006 Muscle Glycogenosis 50
1829 ASP003 Aseptic Meningitis 50
1830 TMP001 Temporal Lobe Epilepsy 50
1831 c VRL012 Viral Meningitis 49
1832 P MGR003 Migraine with Aura 49
1833 FCL012 Facial Paralysis 49
1834 P LSS002 Lissencephaly 48
1835 GNG002 Ganglioneuroma 48
1836 INT075 Intracranial Hypertension 48
1837 c MCP038 Mucopolysaccharidosis Iva 48
1838 HYP141 Hyperphenylalaninemia 48
1839 P TRN034 Transverse Myelitis 48
1840 c MCP040 Mucopolysaccharidosis-Plus Syndrome 48
1841 P ENC008 Encephalocele 48
1842 DBT004 Diabetic Polyneuropathy 47
1843 RFL001 Reflex Sympathetic Dystrophy 47
1844 SRT004 Serotonin Syndrome 47
1845 P NML001 Nemaline Myopathy 47
1846 P SYR001 Syringomyelia 47
1847 MGR028 Migraine with or Without Aura 1 46
1848 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
1849 c ERL020 Early-Onset Schizophrenia 46
1850 c DYS146 Dystonia 24 46
1851 CRB027 Cerebellar Disease 46
1852 c SCN036 Secondary Progressive Multiple Sclerosis 46
1853 P PRM108 Primary Progressive Multiple Sclerosis 45
1854 PLY020 Polyradiculoneuropathy 45
1855 MNN009 Meningoencephalitis 45
1856 GLL032 Galloway-Mowat Syndrome 45
1857 c HLP024 Holoprosencephaly 2 45
1858 ERL001 Early Myoclonic Encephalopathy 44
1859 c HRD039 Hereditary Amyloidosis 44
1860 BSL008 Basal Ganglia Disease 44
1861 P SDR002 Siderosis 44
1862 DND001 Dandy-Walker Syndrome 44
1863 P MCP012 Mucopolysaccharidosis Ih 44
1864 c CHR095 Chronic Progressive External Ophthalmoplegia 43
1865 SPS007 Spastic Cerebral Palsy 43
1866 P JVN007 Juvenile Absence Epilepsy 43
1867 HRT030 Hartsfield Syndrome 43
1868 WRN003 Wernicke Encephalopathy 43
1869 CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 43
1870 BSL009 Basal Ganglia Calcification 43
1871 TMP012 Temple Syndrome 43
1872 P MTC004 Mitochondrial Encephalomyopathy 43
1873 MNN006 Meninges Hemangiopericytoma 42
1874 c PRK059 Parkinson Disease 8 42
1875 P BLP003 Blepharospasm 42
1876 c PSD106 Pseudo-Torch Syndrome 1 42
1877 P RSM001 Rasmussen Encephalitis 42
1878 CRB004 Cerebral Artery Occlusion 42
1879 MNN032 Meningococcal Meningitis 42
1880 c ACT159 Acute Transverse Myelitis 42
1881 MST006 Mast Syndrome 42
1882 CRY014 Cryptococcal Meningitis 42
1883 EPL073 Epilepsy, Nocturnal Frontal Lobe, 1 41
1884 CRT015 Carotid Artery Occlusion 41
1885 P EPN001 Ependymoblastoma 41
1886 MNN001 Meningeal Melanocytoma 41
1887 FRG010 Fragile X Tremor/ataxia Syndrome 41
1888 MYC033 Myoclonus 41
1889 c LKD010 Leukodystrophy, Hypomyelinating, 2 41
1890 c PRK020 Parkinson Disease 6, Early Onset 41
1891 MDN005 Mednik Syndrome 41
1892 P MNN018 Mannosidosis 41
1893 PNM013 Pneumococcal Meningitis 41
1894 c PRK030 Parkinson Disease 4 41
1895 HNN001 Hennekam Syndrome 41
1896 3PS001 3p- Syndrome 41
1897 P CRB149 Cerebroretinal Microangiopathy with Calcifications and Cysts 40
1898 P HYP263 Hypersomnia 40
1899 P MYF003 Myofibrillar Myopathy 40
1900 c HLP026 Holoprosencephaly 3 40
1901 EPL116 Epileptic Encephalopathy, Childhood-Onset 40
1902 CRT009 Critical Illness Polyneuropathy 40
1903 c PRK025 Parkinson Disease 10 40
1904 P GNR002 Generalized Epilepsy with Febrile Seizures Plus 40
1905 FRG008 Fragile X-Associated Tremor/ataxia Syndrome 40
1906 c HLP029 Holoprosencephaly 4 40
1907 GNG008 Ganglioneuroblastoma 40
1908 c BNG023 Benign Familial Infantile Epilepsy 40
1909 NRM002 Normal Pressure Hydrocephalus 39
1910 c DYS103 Dystonia-1, Torsion 39
1911 CRT008 Carotid Artery Dissection 39
1912 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 39
1913 EXT022 Exotropia 39
1914 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 39
1915 PDT035 Pediatric Systemic Lupus Erythematosus 39
1916 c ERL006 Early-Onset Familial Alzheimer Disease 39
1917 CHR386 Chromosome 6pter-P24 Deletion Syndrome 39
1918 c LKD007 Leukodystrophy, Adult-Onset, Autosomal Dominant 39
1919 P CNG024 Congenital Nystagmus 39
1920 CRB009 Cerebritis 39
1921 STR002 Streptococcal Meningitis 39
1922 MNN017 Mononeuropathy 39
1923 P CRB088 Cerebral Atrophy 39
1924 SYN058 Synucleinopathy 39
1925 c HLP023 Holoprosencephaly 1 38
1926 ATY002 Atypical Choroid Plexus Papilloma 38
1927 PLL008 Pallister-Killian Syndrome 38
1928 c CHR091 Chronic Meningitis 38
1929 PLR009 Pol Iii-Related Leukodystrophies 38
1930 VRT003 Vertebrobasilar Insufficiency 38
1931 P MYC068 Myoclonic Epilepsy of Infancy 38
1932 SCR001 Secretory Meningioma 38
1933 HYP026 Hypoglycemic Coma 37
1934 P CRB059 Cerebellar Degeneration 37
1935 P MYS053 Myasthenic Syndrome, Congenital, 14, with Tubular Aggregates 37
1936 c PRK045 Parkinson Disease 5 37
1937 MYS054 Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency 37
1938 CRB148 Cerebral Creatine Deficiency Syndrome 3 37
1939 c OPT050 Opitz Gbbb Syndrome, Type Ii 37
1940 c INF041 Infantile-Onset Ascending Hereditary Spastic Paralysis 37
1941 SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 37
1942 INT042 Internuclear Ophthalmoplegia 37
1943 RHB002 Rhabdoid Meningioma 37
1944 BTR002 Beta-Ureidopropionase Deficiency 37
1945 c ATM075 Autoimmune Encephalitis 37
1946 SML028 Semilobar Holoprosencephaly 36
1947 c GM2005 Gm2-Gangliosidosis, Ab Variant 36
1948 c LKD008 Leukodystrophy, Hypomyelinating, 4 36
1949 SCR011 Scrapie 36
1950 CRB036 Cerebral Meningioma 36
1951 NDL005 Nodular Medulloblastoma 36
1952 LRG003 Large Cell Medulloblastoma 36
1953 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 36
1954 c EPS017 Episodic Ataxia, Type 6 36
1955 PRM056 Primrose Syndrome 36
1956 P PRN022 Perineurioma 36
1957 c SCH051 Schizophrenia 4 36
1958 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 35
1959 INT010 Intracranial Embolism 35
1960 PRP056 Porphyria, Acute Hepatic 35
1961 CRT013 Carotid Stenosis 35
1962 CRB026 Cerebellar Astrocytoma 35
1963 P MNN007 Meningocele 35
1964 c CNG216 Congenital Hydrocephalus 35
1965 CLS049 Classic Phenylketonuria 35
1966 RTN013 Retinal Hemangioblastoma 35
1967 PRT005 Protoplasmic Astrocytoma 35
1968 VNM003 Van Maldergem Syndrome 1 35
1969 c MYP078 Myopathy, Myofibrillar, 3 35
1970 c DYS119 Dystonia 9 35
1971 c EPL120 Epilepsy, Generalized, with Febrile Seizures Plus, Type 1 35
1972 BRC010 Brachial Plexus Lesion 35
1973 BLT001 Bilateral Retinoblastoma 35
1974 MDD003 Middle Cerebral Artery Infarction 35
1975 CHM006 Chime Syndrome 35
1976 OPT054 Opitz-Kaveggia Syndrome 35
1977 MDL003 Medullomyoblastoma 35
1978 MYX013 Myxofibrosarcoma 34
1979 P MYG005 Myoglobinuria 34
1980 CSL001 Causalgia 34
1981 P MYS047 Myasthenic Syndrome, Congenital, 1b, Fast-Channel 34
1982 PLC004 Pilocytic Astrocytoma of Cerebellum 34
1983 VRT001 Vertebral Artery Occlusion 34
1984 CHR073 Choreatic Disease 34
1985 ALB014 Alobar Holoprosencephaly 34
1986 EPL001 Epilepsy with Generalized Tonic-Clonic Seizures 34
1987 c ERL047 Early-Onset Parkinson Disease 34
1988 SGW003 Segawa Syndrome, Recessive 34
1989 BSL004 Basilar Artery Occlusion 34
1990 c MYP079 Myopathy, Myofibrillar, 5 34
1991 c MCP036 Mucopolysaccharidosis Ih/s 34
1992 PLM021 Pilomyxoid Astrocytoma 34
1993 c PRG105 Progressive External Ophthalmoplegia, Autosomal Dominant 1 34
1994 P LSS024 Lissencephaly with Cerebellar Hypoplasia 34
1995 c EPL121 Epilepsy, Progressive Myoclonic 1a 34
1996 LBR025 Lobar Holoprosencephaly 34
1997 PRX075 Proximal Myopathy and Ophthalmoplegia 33
1998 c MCP015 Mucopolysaccharidosis Type Ix 33
1999 INT003 Intracranial Hypotension 33
2000 c NML015 Nemaline Myopathy 3, Autosomal Dominant or Recessive 33
2001 P HYP111 Hyperprolinemia 33
2002 c ALZ032 Alzheimer Disease 18 33
2003 ANT013 Anterior Spinal Artery Syndrome 33
2004 GLY032 Glycosylphosphatidylinositol Deficiency 33
2005 ESN006 Eosinophilic Meningitis 33
2006 OBS004 Obstructive Hydrocephalus 33
2007 c DYS059 Dystonia 16 33
2008 P SLW003 Slow-Channel Congenital Myasthenic Syndrome 33
2009 MCR001 Microcystic Meningioma 33
2010 SPR066 Superficial Siderosis 33
2011 P ECT002 Ectomesenchymoma 33
2012 GMS001 Gemistocytic Astrocytoma 33
2013 c TYP024 Type Ii Mixed Cryoglobulinemia 33
2014 c MYS058 Myasthenic Syndrome, Congenital, 13, with Tubular Aggregates 33
2015 c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 33
2016 MLY006 Molybdenum Cofactor Deficiency a 33
2017 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 32
2018 P ENC021 Encephalopathy, Neonatal Severe 32
2019 CHR028 Chronic Wasting Disease 32
2020 PLX004 Plexopathy 32
2021 c OPT051 Opitz Gbbb Syndrome, Type I 32
2022 LKC002 Leukocoria 32
2023 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 32
2024 EPL072 Epilepsy, Nocturnal Frontal Lobe, 3 32
2025 c PRN053 Porencephaly 1 32
2026 MCR096 Macrocephaly/autism Syndrome 32
2027 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 32
2028 PHS022 Phosphoserine Phosphatase Deficiency 32
2029 c HLP027 Holoprosencephaly 7 32
2030 EYD001 Eye Degenerative Disease 32
2031 FNG004 Fungal Meningitis 32
2032 PSD001 Pseudobulbar Palsy 32
2033 P CMM008 Communicating Hydrocephalus 32
2034 PPL050 Papillary Tumor of the Pineal Region 32
2035 FCL049 Focal Hand Dystonia 32
2036 c PRK051 Parkinson Disease 18 32
2037 c HPR001 Hprt-Related Gout 32
2038 MYT003 Myotonic Disease 32
2039 UNL002 Unilateral Retinoblastoma 32
2040 ALG001 Algoneurodystrophy 31
2041 c PRM092 Primary Lateral Sclerosis, Adult, 1 31
2042 MCR173 Microform Holoprosencephaly 31
2043 c MYS046 Myasthenic Syndrome, Congenital, 1a, Slow-Channel 31
2044 HYP034 Hypertensive Encephalopathy 31
2045 PHS014 Phosphoglycerate Kinase 1 Deficiency 31
2046 INT053 Intracranial Vasospasm 31
2047 c RCR002 Recurrent Hypersomnia 31
2048 GLM012 Glomuvenous Malformations 31
2049 EPD005 Epidural Abscess 31
2050 CLR018 Clear Cell Meningioma 31
2051 P DYS067 Dystonia 6, Torsion 31
2052 c PRK026 Parkinson Disease 11 31
2053 LST003 Listeria Meningitis 31
2054 INT082 Intraocular Retinoblastoma 31
2055 SPN354 Spinal Arachnoiditis 31
2056 c CHR135 Charcot-Marie-Tooth Disease Type 2a 31
2057 PHS021 Phosphoglycerate Dehydrogenase Deficiency 31
2058 PRG090 Progressive Relapsing Multiple Sclerosis 30
2059 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 30
2060 c MYP097 Myopathy with Lactic Acidosis, Hereditary 30
2061 DGN002 Degenerative Myopia 30
2062 c NML017 Nemaline Myopathy 4, Autosomal Dominant 30
2063 c NML014 Nemaline Myopathy 1, Autosomal Dominant or Recessive 30
2064 c SCK009 Seckel Syndrome 1 30
2065 P GNG010 Gangliosidosis Gm2 30
2066 PST086 Posterior Cortical Atrophy 30
2067 PLY021 Polyradiculopathy 30
2068 CPT005 Cpt Ii Deficiency, Lethal Neonatal 30
2069 ASP024 Asparagine Synthetase Deficiency 30
2070 c CHR094 Chronic Polyneuropathy 30
2071 P SPN202 Spinocerebellar Ataxia, X-Linked 1 30
2072 BLC015 Balo Concentric Sclerosis 30
2073 CHR033 Chordoid Glioma 30
2074 c EPL067 Epilepsy, Generalized, with Febrile Seizures Plus, Type 2 30
2075 GLT032 Glut1 Deficiency Syndrome 2, Childhood Onset 30
2076 DYS001 Dyskinetic Cerebral Palsy 30
2077 c PRK052 Parkinson Disease 17 30
2078 AKN002 Akinetic Mutism 30
2079 MTC059 Mitochondrial Dna Depletion Syndrome 5 30
2080 c HYD047 Hydrocephalus, Nonsyndromic, Autosomal Recessive 30
2081 CRB018 Cerebral Lipidosis 30
2082 ATX018 Ataxia, Cerebellar, Cayman Type 30
2083 c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 30
2084 PTH003 Pathologic Nystagmus 30
2085 c MCP023 Mucopolysaccharidosis Type Ivb 30
2086 c HRD198 Hereditary Dystonia 30
2087 ORM002 Oromandibular Dystonia 30
2088 LCT005 Lacticacidemia Due to Pdx1 Deficiency 30
2089 MCR183 Microcephaly-Capillary Malformation Syndrome 30
2090 c SCK033 Seckel Syndrome 8 29
2091 CMP006 Complex Partial Epilepsy 29
2092 SBD001 Subdural Empyema 29
2093 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 29
2094 P HYP700 Hypomyelinating Leukodystrophy 29
2095 CHR055 Chordoid Meningioma 29
2096 CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 29
2097 c LSS010 Lissencephaly 4 29
2098 GBT001 Gaba-Transaminase Deficiency 29
2099 RHB022 Rhabdoid Tumors, Somatic 29
2100 c ATS307 Autosomal Recessive Cerebellar Ataxia 29
2101 FCL003 Facial Hemiatrophy 29
2102 ANG009 Angiomatous Meningioma 29
2103 c SCK010 Seckel Syndrome 4 29
2104 MTC060 Mitochondrial Dna Depletion Syndrome 9 29
2105 CRB031 Cerebral Arterial Disease 29
2106 CRB005 Cerebral Arteritis 29
2107 BCH003 Boucher-Neuhauser Syndrome 29
2108 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 29
2109 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 29
2110 CRP025 Corpus Callosum, Partial Agenesis of 29
2111 c SCK011 Seckel Syndrome 5 29
2112 SPT016 Septopreoptic Holoprosencephaly 29
2113 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 28
2114 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 28
2115 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 28
2116 GLY094 Glycine Encephalopathy with Normal Serum Glycine 28
2117 ACR021 Aica-Ribosiduria Due to Atic Deficiency 28
2118 c JVN038 Juvenile Myasthenia Gravis 28
2119 c PRK037 Parkinson Disease 13 28
2120 CNJ001 Conjugate Gaze Palsy 28
2121 P MCR099 Microlissencephaly 28
2122 RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 28
2123 LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 28
2124 c MLG133 Malignant Ectomesenchymoma 28
2125 ATY003 Atypical Autism 28
2126 c EPL145 Epilepsy, Progressive Myoclonic 6 28
2127 ANT022 Anterior Cranial Fossa Meningioma 28
2128 HYP048 Hypotropia 28
2129 NPH064 Nipah Virus Disease 28
2130 c HLP025 Holoprosencephaly 9 28
2131 c CWD008 Cowden Syndrome 6 28
2132 NRN022 Neurenteric Cyst 28
2133 PRP093 Pierpont Syndrome 28
2134 ANG050 Angiocentric Glioma 28
2135 P STR001 Striatonigral Degeneration 28
2136 CRB028 Cerebellar Medulloblastoma 28
2137 c ALZ015 Alzheimer Disease 6 28
2138 c NML009 Nemaline Myopathy 2, Autosomal Recessive 28
2139 SPR011 Suprasellar Meningioma 28
2140 CRT037 Cortical Dysplasia-Focal Epilepsy Syndrome 28
2141 MTC088 Mitochondrial Dna Depletion Syndrome 13 28
2142 DST008 Diastematomyelia 27
2143 c MYP080 Myopathy, Myofibrillar, 4 27
2144 PSM001 Psammomatous Meningioma 27
2145 HYP047 Hypertropia 27
2146 ENC005 Encephalomalacia 27
2147 c HLP016 Holoprosencephaly 11 27
2148 FBR001 Fibrous Meningioma 27
2149 c PRK070 Parkinson Disease 21 27
2150 c DYS151 Dystonia 25 27
2151 DBT081 Diabetic Encephalopathy 27
2152 LNG015 Lingual-Facial-Buccal Dyskinesia 27
2153 TRN002 Transitional Meningioma 27
2154 c EPL133 Epilepsy, Juvenile Absence 1 27
2155 CMB009 Combined Sap Deficiency 27
2156 EXT009 Extratemporal Epilepsy 27
2157 HMD003 Hemidystonia 27
2158 MTC062 Mitochondrial Dna Depletion Syndrome 2 27
2159 CPT006 Cpt Ii Deficiency, Myopathic, Stress-Induced 27
2160 OCL066 Oculogyric Crisis 27
2161 c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 27
2162 CMB017 Combined Oxidative Phosphorylation Deficiency 6 27
2163 c SNC002 Snca-Related Parkinson Disease 26
2164 OCL063 Oculopharyngodistal Myopathy 26
2165 P SYN064 Syndromic X-Linked Intellectual Disability 26
2166 RHM015 Rhombencephalosynapsis 26
2167 INT083 Intraventricular Meningioma 26
2168 RBS005 Ribose 5-Phosphate Isomerase Deficiency 26
2169 CLR007 Colorado Tick Fever 26
2170 c EPS037 Episodic Ataxia, Type 4 26
2171 CHR080 Choroidal Sclerosis 26
2172 RFL002 Reflex Epilepsy 26
2173 c MLT094 Multiple Sclerosis 3 26
2174 c PRM015 Primary Cerebellar Degeneration 26
2175 FCL007 Facial Neuralgia 26
2176 c DYS145 Dystonia 23 26
2177 ACT064 Acute Necrotizing Encephalitis 26
2178 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 26
2179 c EPL148 Epilepsy, Myoclonic, Familial Adult, 2 26
2180 ANS018 Anismus 26
2181 EPL096 Epilepsy, Nocturnal Frontal Lobe, 5 26
2182 P ENC051 Encephalopathy, Lethal, Due to Defective Mitochondrial Peroxisomal Fission 1 26
2183 OCC005 Occlusion Precerebral Artery 26
2184 ANT007 Anterior Horn Cell Disease 26
2185 PST027 Postencephalitic Parkinson Disease 26
2186 PTC005 Pituicytoma 26
2187 INT009 Intracranial Abscess 26
2188 c ALZ045 Alzheimer Disease 9 26
2189 AMY003 Amyotrophic Neuralgia 26
2190 c CWD004 Cowden Syndrome 5 26
2191 c PRK081 Parkinson Disease 19a, Juvenile-Onset 26
2192 MLD011 Mild Hyperphenylalaninemia 26
2193 c DYS072 Dystonia 7 26
2194 c DYS163 Dystonia 4, Torsion, Autosomal Dominant 26
2195 NLL002 Null Syndrome 26
2196 c SCH073 Schizophrenia 9 25
2197 c LSS009 Lissencephaly 3 25
2198 c PRK065 Parkinson Disease 20, Early-Onset 25
2199 c SCK015 Seckel Syndrome 2 25
2200 SPN340 Spontaneous Intracranial Hypotension 25
2201 c SCH059 Schizophrenia 17 25
2202 c DYS063 Dystonia 2, Torsion, Autosomal Recessive 25
2203 HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 25
2204 WTT002 Witteveen-Kolk Syndrome 25
2205 c DYS162 Dystonia, Juvenile-Onset 25
2206 c EPL041 Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 25
2207 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 25
2208 PRL014 Paralytic Squint 25
2209 c MLT124 Multiple Sclerosis 5 25
2210 c HLP028 Holoprosencephaly 5 25
2211 c SPS092 Spastic Paraplegia 11 25
2212 TTT001 Tatton-Brown-Rahman Syndrome 25
2213 c SCH056 Schizophrenia 15 25
2214 c MYG003 Myoglobinuria Recurrent 25
2215 CRB147 Cerebellofaciodental Syndrome 25
2216 P SPS154 Spastic Paralysis, Infantile Onset Ascending 25
2217 c CWD003 Cowden Syndrome 2 25
2218 c MYC070 Myoclonic Epilepsy, Juvenile 1 25
2219 MTC078 Mitochondrial Dna Depletion Syndrome 11 25
2220 HRD019 Hereditary Choroidal Atrophy 25
2221 c BLP015 Blepharospasm, Primary Benign 25
2222 c NML022 Nemaline Myopathy 10 25
2223 ACC003 Accommodative Esotropia 24
2224 c NML018 Nemaline Myopathy 7, Autosomal Recessive 24
2225 c MYS042 Myasthenic Syndrome, Congenital, 8, with Pre- and Postsynaptic Defects 24
2226 SLC020 Sialic Acid Storage Disorder, Infantile 24
2227 c HYP248 Hyperprolinemia, Type I 24
2228 BRC002 Brachial Plexus Neuritis 24
2229 CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 24
2230 c ERL003 Early Onset Absence Epilepsy 24
2231 HYD034 Hydromyelia 24
2232 c EPL086 Epilepsy, Idiopathic Generalized 9 24
2233 c SCH064 Schizophrenia 10 24
2234 c EPL134 Epilepsy, Progressive Myoclonic 7 24
2235 c INF122 Infantile Krabbe Disease 24
2236 c EPS015 Episodic Ataxia, Type 7 24
2237 PLY110 Polymicrogyria, Bilateral Temporooccipital 24
2238 BNB002 Bainbridge-Ropers Syndrome 24
2239 c STR085 Striatonigral Degeneration, Infantile 24
2240 c EPL132 Epilepsy, Childhood Absence 2 24
2241 HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 24
2242 P PST063 Postsynaptic Congenital Myasthenic Syndromes 24
2243 P MYP095 Myopathy, Distal, 4 24
2244 c DYS186 Dystonia 2 24
2245 LGH012 Leigh Syndrome with Leukodystrophy 24
2246 c NML019 Nemaline Myopathy 6, Autosomal Dominant 24
2247 c EPL098 Epilepsy, Idiopathic Generalized 12 24
2248 c MTC074 Metachromatic Leukodystrophy, Adult Form 24
2249 MLY005 Molybdenum Cofactor Deficiency B 24
2250 c PRK022 Parkinson Disease 12 24
2251 PRK066 Parkinsonism with Spasticity, X-Linked 24
2252 CRT069 Cortical Malformations, Occipital 24
2253 P NNT006 Neonatal Myasthenia Gravis 24
2254 c ALZ048 Alzheimer's Disease 19 24
2255 HYP717 Hypotonia, Infantile, with Psychomotor Retardation 24
2256 c HYP539 Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive 24
2257 c ALZ002 Alzheimer Disease Type 1 24
2258 c SYN078 Syndromic X-Linked Intellectual Disability Type 10 24
2259 ALZ030 Alazami Syndrome 24
2260 HMP030 Haemophilus Meningitis 24
2261 CMB046 Combined Oxidative Phosphorylation Deficiency 11 24
2262 MYS045 Myasthenia, Congenital, 12, with Tubular Aggregates 24
2263 MYS021 Myosclerosis, Congenital 23
2264 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 23
2265 c ALZ014 Alzheimer Disease 16 23
2266 P FML186 Familial Paroxysmal Nonkinesigenic Dyskinesia 23
2267 CHR487 Chromosome 8q21.11 Deletion Syndrome 23
2268 ADG002 Audiogenic Seizures 23
2269 LKN017 Leukoencephalopathy with Ataxia 23
2270 PRT101 Poretti-Boltshauser Syndrome 23
2271 c NML021 Nemaline Myopathy 9 23
2272 c NML016 Nemaline Myopathy 8, Autosomal Recessive 23
2273 PRS024 Parasagittal Meningioma 23
2274 c CWD007 Cowden Syndrome 3 23
2275 VTR002 Vitreous Syneresis 23
2276 c EPL188 Epilepsy, Progressive Myoclonic, 10 23
2277 c HRD173 Hereditary Late-Onset Parkinson Disease 23
2278 c SPS020 Spastic Paraplegia 1 23
2279 OCC011 Occipital Encephalocele 23
2280 PYR025 Pyruvate Dehydrogenase E2 Deficiency 23
2281 c EPL084 Epilepsy, Idiopathic Generalized 11 23
2282 c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 23
2283 c HLP022 Holoprosencephaly 8 23
2284 c CWD005 Cowden Syndrome 4 23
2285 MLG143 Malignant Hyperthermia of Anesthesia 23
2286 LKN008 Leukoencephalopathy, Cystic, Without Megalencephaly 23
2287 MNN004 Meningothelial Meningioma 23
2288 MCR325 Microcephaly, Short Stature, and Polymicrogyria with Seizures 23
2289 c EPL155 Epilepsy, Progressive Myoclonic, 8 23
2290 SZR018 Seizures, Scoliosis, and Macrocephaly Syndrome 23
2291 c BSL030 Basal Encephalocele 23
2292 ATS327 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2 22
2293 c MYS062 Myasthenic Syndrome, Congenital, 2a, Slow-Channel 22
2294 PYR024 Pyridoxamine 5'-Phosphate Oxidase Deficiency 22
2295 MYS057 Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency 22
2296 c CHR142 Charcot-Marie-Tooth Disease Type 2f 22
2297 CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 22
2298 CVR001 Cavernous Sinus Meningioma 22
2299 c ALZ031 Alzheimer Disease 17 22
2300 MYL044 Myelocystocele 22
2301 MLN004 Melanotic Medulloblastoma 22
2302 MYP103 Myopathy, Proximal, with Early Respiratory Muscle Involvement 22
2303 c SCK029 Seckel Syndrome 7 22
2304 c PRK007 Parkinson Disease Type 3 22
2305 PSY012 Psychogenic Movement 22
2306 c EPL137 Epilepsy, Childhood Absence 6 22
2307 P SPN237 Spina Bifida Aperta 22
2308 c SYS066 Systemic Polyarteritis Nodosa 22
2309 GLT028 Glutaric Aciduria Iii 22
2310 ASS004 Aase-Smith Syndrome I 22
2311 LVY002 Levy-Shanske Syndrome 22
2312 MCH006 Mechanical Strabismus 22
2313 c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 22
2314 KLP011 Klippel-Feil Syndrome 4, Autosomal Recessive, with Myopathy and Facial Dysmorphism 22
2315 INF033 Infancy Electroclinical Syndrome 22
2316 MYP038 Myopathy, Congenital, Compton-North 22
2317 BSL040 Basel-Vanagait-Smirin-Yosef Syndrome 22
2318 ANM008 Anemia, Sideroblastic, with Ataxia 22
2319 P OTP001 Otopalatodigital Syndrome 22
2320 PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 22
2321 c PRM150 Primary Localized Amyloidosis 22
2322 c CRB170 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 22
2323 CMB054 Combined Oxidative Phosphorylation Deficiency 23 22
2324 c LPR017 Leprosy 5 22
2325 c LKD022 Leukodystrophy, Hypomyelinating, 13 21
2326 c FRN037 Frontal Encephalocele 21
2327 c EPL094 Epilepsy, Juvenile Myoclonic 5 21
2328 MCR226 Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy 21
2329 c GNR034 Generalized Epilepsy with Febrile Seizures Plus, Type 9 21
2330 PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 21
2331 HMC036 Homocystinuria Without Methylmalonic Aciduria 21
2332 MTC079 Mitochondrial Pyruvate Carrier Deficiency 21
2333 P FRM004 Foramen Magnum Meningioma 21
2334 MYC069 Myoclonic-Astastic Epilepsy 21
2335 c LKD016 Leukodystrophy, Hypomyelinating, 9 21
2336 ADL051 Adolescence-Adult Electroclinical Syndrome 21
2337 c DYS138 Dystonia 21 21
2338 BSL001 Basilar Artery Insufficiency 21
2339 c PRK079 Parkinson Disease 23, Autosomal Recessive, Early Onset 21
2340 SGM008 Segmental Dystonia 21
2341 SYP001 Syphilitic Meningitis 21
2342 c EPL144 Epilepsy, Progressive Myoclonic 1b 21
2343 c EPS034 Episodic Ataxia, Type 5 21
2344 c LKD021 Leukodystrophy, Hypomyelinating, 11 21
2345 MTC116 Mitochondrial Myopathy, Infantile, Transient 21
2346 PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 21
2347 c EPL147 Epilepsy, Myoclonic, Familial Adult, 5 21
2348 MLY007 Molybdenum Cofactor Deficiency C 21
2349 c CNT095 Centronuclear Myopathy 5 21
2350 c EPL154 Epilepsy, Progressive Myoclonic, 9 21
2351 LMB069 Lamb-Shaffer Syndrome 21
2352 CRB017 Cerebral Falx Meningioma 21
2353 CRB032 Cerebral Convexity Meningioma 21
2354 VRT002 Vertebral Artery Insufficiency 21
2355 SBB001 Sbbyss Syndrome 21
2356 RTN174 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 21
2357 c PRN047 Porencephaly 2 21
2358 c SBC039 Subacute Cerebellar Degeneration 21
2359 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 21
2360 c LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 21
2361 c MYP098 Myopathy, Centronuclear, 4 21
2362 c LKD020 Leukodystrophy, Hypomyelinating, 10 20
2363 CHL058 Childhood Electroclinical Syndrome 20
2364 PRS120 Persistent Idiopathic Facial Pain 20
2365 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 20
2366 ATS238 Autosomal Recessive Cutis Laxa Type 2, Classic Type 20
2367 MYP121 Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 20
2368 c MYP096 Myopathy, Centronuclear, 3 20
2369 c DYS137 Dystonia 4 20
2370 ABN001 Abnormal Retinal Correspondence 20
2371 c DYS172 Dystonia 27 20
2372 c EPL136 Epilepsy, Childhood Absence 5 20
2373 MYP035 Myopathy, Distal, with Anterior Tibial Onset 20
2374 PDT015 Pediatric Supratentorial Ependymoma 20
2375 NNT041 Neonatal Period Electroclinical Syndrome 20
2376 c ALZ043 Alzheimer's Disease 15 20
2377 ABS020 Absent Eyebrows and Eyelashes with Mental Retardation 20
2378 c ALZ041 Alzheimer's Disease 13 20
2379 EPL021 Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 20
2380 c HYP519 Hyperekplexia 3 20
2381 c MYS060 Myasthenic Syndrome, Congenital, 4b, Fast-Channel 20
2382 CHR362 Chromosome 17q21.31 Duplication Syndrome 20
2383 c SPS198 Spastic Paraplegia 16, X-Linked 20
2384 c FML302 Familial Schizencephaly, Shh-Related 20
2385 c MYP119 Myopathy, Myofibrillar, 7 20
2386 DFF013 Diffuse Meningeal Melanocytosis 20
2387 c ADL084 Adult-Onset Myasthenia Gravis 20
2388 c MYS049 Myasthenic Syndrome, Congenital, 3b, Fast-Channel 20
2389 c PRK008 Parkinson Disease Type 9 20
2390 DSN002 Desanto-Shinawi Syndrome 20
2391 c PRK058 Parkinson Disease 16 20
2392 c MYP112 Myopathy, Distal, 3 20
2393 c ALZ042 Alzheimer's Disease 14 20
2394 c LKD023 Leukodystrophy, Hypomyelinating, 12 20
2395 c DYS185 Dystonia 13, Torsion, Autosomal Dominant 20
2396 RTC007 Reticular Perineurioma 20
2397 CHR616 Chromosome 19q13.11 Deletion Syndrome, Distal 20
2398 c SPS042 Spastic Paraplegia 9 20
2399 MYM008 Moyamoya 6 with Achalasia 20
2400 HYP690 Hyper-Beta-Alaninemia 20
2401 SPS207 Spastic Paraplegia and Psychomotor Retardation with or Without Seizures 20
2402 PRT006 Partial Motor Epilepsy 20
2403 c SCK032 Seckel Syndrome 6 19
2404 ATY034 Atypical Juvenile Parkinsonism 19
2405 YNH001 Yuan-Harel-Lupski Syndrome 19
2406 PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 19
2407 c MYS048 Myasthenic Syndrome, Congenital, 3a, Slow-Channel 19
2408 GRW033 Growth Retardation, Small and Puffy Hands and Feet, and Eczema 19
2409 c HYP536 Hyperekplexia 2, Autosomal Recessive 19
2410 c ALZ040 Alzheimer's Disease 11 19
2411 c FCL056 Facial Paresis, Hereditary Congenital, 3 19
2412 CHR006 Choroid Plexus Meningioma 19
2413 EXT029 Extraocular Retinoblastoma 19
2414 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 19
2415 c NML024 Nemaline Myopathy 11, Autosomal Recessive 19
2416 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 19
2417 SPS134 Spasmodic Dystonia 19
2418 CRB015 Cerebellar Angioblastoma 19
2419 P TRC034 Torch Syndrome 19
2420 SCR035 Sacral Agenesis with Vertebral Anomalies 19
2421 c CWD009 Cowden Syndrome 7 19
2422 c EPS014 Episodic Ataxia, Type 3 19
2423 UND011 Undetermined Early-Onset Epileptic Encephalopathy 19
2424 HRR005 Harrod Syndrome 19
2425 ALP085 Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 19
2426 c DYS175 Dystonia 26, Myoclonic 19
2427 PRX090 Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy 19
2428 c EPL142 Epilepsy Idiopathic Generalized 8 19
2429 GST054 Gustavson Syndrome 19
2430 c MLT093 Multiple Sclerosis 2 19
2431 SPN365 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 19
2432 CHR393 Chromosome 19p13.13 Deletion Syndrome 19
2433 PDT016 Pediatric Infratentorial Ependymoma 19
2434 c ALZ008 Alzheimer Disease Risk Factor 19
2435 P OVR096 Overlap Myositis 19
2436 P ANT004 Anterior Cerebral Artery Infarction 19
2437 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant 18
2438 c INF126 Infantile Glycine Encephalopathy 18
2439 MRC009 Mercaptolactate-Cysteine Disulfiduria 18
2440 c MLT095 Multiple Sclerosis 4 18
2441 SPS190 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 18
2442 MCR321 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 18
2443 SPS211 Spasticity, Childhood-Onset, with Hyperglycinemia 18
2444 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 18
2445 SDN002 Sudanophilic Cerebral Sclerosis 18
2446 CRV062 Cervical Spina Bifida Cystica 18
2447 MYS050 Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency 18
2448 CHR567 Chromosome 5q12 Deletion Syndrome 18
2449 CRV063 Cervical Spina Bifida Aperta 18
2450 TTL008 Total Spina Bifida Cystica 18
2451 LMB056 Lumbosacral Spina Bifida Cystica 18
2452 c SCH061 Schizophrenia 16 18
2453 MSL004 Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis 18
2454 c PSD107 Pseudo-Torch Syndrome 2 18
2455 CMB052 Combined Oxidative Phosphorylation Deficiency 20 18
2456 c TTL009 Total Spina Bifida Aperta 18
2457 c SCK038 Seckel Syndrome 10 18
2458 CMB063 Combined Oxidative Phosphorylation Deficiency 25 18
2459 TRG019 Trigonocephaly with Short Stature and Developmental Delay 18
2460 PRP008 Parapharyngeal Meningioma 18
2461 c EPS033 Episodic Ataxia, Type 8 18
2462 c SCH075 Schizophrenia 19 18
2463 CHR397 Chromosome Xp11.3 Deletion Syndrome 18
2464 c SCK037 Seckel Syndrome 9 18
2465 PRM153 Primary Progressive Apraxia of Speech 18
2466 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 18
2467 PLY115 Polyendocrine-Polyneuropathy Syndrome 18
2468 c SPS062 Spastic Paraplegia 34, X-Linked 18
2469 EPL161 Epilepsy, Reading 18
2470 NNT038 Neonatal Glycine Encephalopathy 18
2471 MYS043 Myasthenic Syndrome, Congenital, 15, Without Tubular Aggregates 18
2472 c HYP699 Hyperekplexia 1 18
2473 DVL018 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 18
2474 MXD001 Mixed Cerebral Palsy 18
2475 CRB023 Cerebellopontine Angle Meningioma 18
2476 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 18
2477 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 18
2478 c EPL091 Epilepsy, Idiopathic Generalized 3 18
2479 MCR311 Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome 18
2480 c EPL165 Epilepsy, Idiopathic Generalized 14 18
2481 c MYP118 Myopathy, Myofibrillar, 8 18
2482 SZR021 Seizures, Cortical Blindness, Microcephaly Syndrome 17
2483 SPN356 Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia 17
2484 PLY114 Polyglucosan Body Myopathy 2 17
2485 RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 17
2486 c EPS013 Episodic Kinesigenic Dyskinesia 2 17
2487 c MYP116 Myopathy, Distal, 5 17
2488 THR085 Thoracolumbosacral Spina Bifida Aperta 17
2489 LMB057 Lumbosacral Spina Bifida Aperta 17
2490 CRV064 Cervicothoracic Spina Bifida Aperta 17
2491 CRV061 Cervicothoracic Spina Bifida Cystica 17
2492 UPP007 Upper Thoracic Spina Bifida Cystica 17
2493 c LSS035 Lissencephaly 8 17
2494 UPP008 Upper Thoracic Spina Bifida Aperta 17
2495 THR084 Thoracolumbosacral Spina Bifida Cystica 17
2496 c LRR001 Lrrk2-Related Parkinson Disease 17
2497 MYP104 Myopathy, Vacuolar, with Casq1 Aggregates 17
2498 c SPN203 Spinocerebellar Ataxia, X-Linked 5 17
2499 c PST018 Posterior Cerebral Artery Infarction 17
2500 MYS063 Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency 17
2501 c MYS011 Myasthenia Gravis Congenital 17
2502 3P2001 3p25.3 Microdeletion Syndrome 17
2503 11Q001 11q22.2q22.3 Microdeletion Syndrome 17
2504 RDT014 Radiation Myelitis 17
2505 PDT041 Pediatric Arterial Ischemic Stroke 17
2506 c SVR048 Severe Canavan Disease 17
2507 c PL2003 Pla2g6-Related Parkinson Disease 17
2508 INF118 Inflammatory Myopathy with Abundant Macrophages 17
2509 MYP114 Myopathy, Scapulohumeroperoneal 17
2510 c MLT069 Multiple Mitochondrial Dysfunctions Syndrome 2 17
2511 HYP659 Hypomyelinating Leukoencephalopathy 17
2512 ZBR001 Zebra Body Myopathy 17
2513 DST036 Distal Trisomy 15q 17
2514 6Q1001 6q16 Deletion Syndrome 17
2515 c SYN056 Syndromic X-Linked Intellectual Disability 7 17
2516 c BCT018 Bacterial Myositis 16
2517 c NYS003 Nystagmus 2, Congenital, Autosomal Dominant 16
2518 7P2001 7p22.1 Microduplication Syndrome 16
2519 c JVN052 Juvenile-Onset Parkinson Disease 16
2520 c CRB168 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 16
2521 CRN156 Craniofacioskeletal Syndrome 16
2522 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 16
2523 c FCL030 Facial Paresis, Hereditary Congenital, 1 16
2524 c HYD042 Hydrocephalus, Autosomal Dominant 16
2525 CHR043 Chronic Inflammatory Demyelinating Polyneuritis 16
2526 TRN068 Transketolase Deficiency 16
2527 MNG007 Manganese Poisoning 16
2528 c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 16
2529 CMB051 Combined Oxidative Phosphorylation Deficiency 21 16
2530 CRN269 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 16
2531 c AHM002 Ah Amylo