Aliases & Classifications for Visual Epilepsy

MalaCards integrated aliases for Visual Epilepsy:

Name: Visual Epilepsy 12 15
Seizures 43 39
Epilepsy, Visual 12
Visual Seizure 71

Classifications:



External Ids:

Disease Ontology 12 DOID:11832
MeSH 43 D012640
NCIt 49 C3980
SNOMED-CT 67 39194005
UMLS 71 C0270824

Summaries for Visual Epilepsy

MalaCards based summary : Visual Epilepsy, also known as seizures, is related to benign neonatal seizures and generalized epilepsy with febrile seizures plus, and has symptoms including seizures An important gene associated with Visual Epilepsy is MFSD8 (Major Facilitator Superfamily Domain Containing 8), and among its related pathways/superpathways is Lysosome. The drugs Carbamazepine and Nitrazepam have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and cortex, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Visual Epilepsy

Diseases related to Visual Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 2979, show less)
# Related Disease Score Top Affiliating Genes
1 benign neonatal seizures 34.9 KCNQ2 CHRNA4 CDKL5
2 generalized epilepsy with febrile seizures plus 34.8 KCNQ2 CHRNA4 CDKL5
3 epileptic encephalopathy, early infantile, 6 34.2 KCNQ2 CHRNA4 CDKL5
4 pyridoxamine 5-prime-phosphate oxidase deficiency 34.2 KCNQ2 ALDH7A1
5 benign familial infantile epilepsy 34.1 KCNQ2 CHRNA4 CDKL5 ATP1A3
6 early myoclonic encephalopathy 34.1 KCNQ2 CHRNA4 CDKL5
7 benign familial neonatal epilepsy 34.0 KCNQ2 CDKL5
8 childhood absence epilepsy 33.9 KCNQ2 CHRNA4 CDKL5
9 benign epilepsy with centrotemporal spikes 33.7 KCNQ2 CHRNA4 CDKL5
10 epileptic encephalopathy, early infantile, 14 33.6 CHRNA4 CDKL5
11 early infantile epileptic encephalopathy 33.5 KCNQ2 CHRNA4 CDKL5 ATP1A3 ALDH7A1
12 epilepsy, myoclonic juvenile 33.4 KCNQ2 CHRNA4 CDKL5
13 west syndrome 33.4 WDR45 KCNQ2 CDKL5 ARFGEF2
14 ceroid lipofuscinosis, neuronal, 3 33.3 TPP1 MFSD8 CTSF CLN6 CLN5
15 ceroid lipofuscinosis, neuronal, 11 33.2 TPP1 MFSD8 CTSF CLN6 CLN5
16 unverricht-lundborg syndrome 33.2 CLN6 CLN5 CHRNA4
17 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 33.1 MFSD8 CLN6 CLN5
18 epilepsy, nocturnal frontal lobe, 1 33.1 KCNQ2 CHRNA4
19 neuronal ceroid lipofuscinosis 32.7 TPP1 MFSD8 CTSF CLN6 CLN5
20 ceroid lipofuscinosis, neuronal, 10 32.7 TPP1 MFSD8 CTSF CLN6 CLN5
21 ceroid lipofuscinosis, neuronal, 2 32.6 TPP1 CLN6 CLN5
22 ceroid lipofuscinosis, neuronal, 1 32.6 TPP1 MFSD8 CTSF CLN6 CLN5
23 ceroid lipofuscinosis, neuronal, 7 32.6 TPP1 MFSD8 CTSF CLN6 CLN5
24 ceroid lipofuscinosis, neuronal, 6 32.6 MFSD8 CLN6 CLN5
25 adult neuronal ceroid lipofuscinosis 32.5 TPP1 CLN6
26 partial motor epilepsy 32.5 KCNQ2 CDKL5
27 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 32.4 KCNQ2 CHRNA4
28 neuronal ceroid-lipofuscinoses 32.4 CLN6 CLN5
29 ceroid lipofuscinosis, neuronal, 13 32.4 TPP1 MFSD8 CTSF CLN6 CLN5
30 ceroid lipofuscinosis, neuronal, 9 32.4 TPP1 MFSD8 CLN6 CLN5
31 epileptic encephalopathy, early infantile, 9 32.3 KCNQ2 CDKL5
32 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 32.2 TPP1 CLN6
33 alacrima, achalasia, and mental retardation syndrome 32.1 KCNQ2 CUL4B C12orf57 BPTF ANKRD11
34 progressive myoclonus epilepsy 3 32.1 TPP1 MFSD8 CLN6 CLN5
35 lipid storage disease 32.0 TPP1 CLN6 CLN5
36 autism 31.7 CHRNA4 CHRNA1 CDKL5 BPTF ANKRD11 ADNP
37 epilepsy 31.2 KCNQ2 CLN6 CLN5 CHRNA4 CDKL5 ATP1A3
38 hydrocephalus, congenital, 1 31.0 ATP1A3 ALDH7A1
39 progressive myoclonus epilepsy 30.8 TPP1 CLN6 CLN5
40 ceroid storage disease 30.6 TPP1 CLN6 CLN5
41 focal epilepsy 30.4 KCNQ2 CHRNA4 CDKL5
42 epilepsy, idiopathic generalized 30.3 KCNQ2 CHRNA4 CDKL5
43 seizure disorder 12.7
44 malignant migrating partial seizures of infancy 12.6
45 generalized epilepsy with febrile seizures plus, type 7 12.6
46 generalized epilepsy with febrile seizures plus, type 2 12.6
47 febrile seizures 12.5
48 generalized epilepsy with febrile seizures plus, type 1 12.5
49 febrile seizures, familial, 8 12.5
50 seizures, benign familial infantile, 3 12.5
51 generalized epilepsy with febrile seizures plus, type 9 12.5
52 febrile seizures, familial, 11 12.5
53 multiple congenital anomalies-hypotonia-seizures syndrome 2 12.5
54 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 12.5
55 genetic epilepsy with febrile seizures plus 12.5
56 multiple congenital anomalies-hypotonia-seizures syndrome 1 12.5
57 multiple congenital anomalies-hypotonia-seizures syndrome 3 12.5
58 microcephaly, short stature, and polymicrogyria with or without seizures 12.4
59 febrile seizures, familial, 4 12.4
60 microcephaly, seizures, and developmental delay 12.4
61 generalized epilepsy with febrile seizures plus, type 10 12.4
62 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 12.4
63 seizures, benign familial infantile, 2 12.4
64 generalized epilepsy with febrile seizures plus, type 8 12.4
65 seizures, benign familial neonatal, 1 12.4
66 seizures, scoliosis, and macrocephaly/microcephaly syndrome 12.4
67 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 12.4
68 multiple congenital anomalies-hypotonia-seizures syndrome 12.4
69 febrile seizures, familial, 1 12.4
70 rigidity and multifocal seizure syndrome, lethal neonatal 12.4
71 dissociative seizures 12.4
72 generalized epilepsy with febrile seizures plus, type 4 12.4
73 generalized epilepsy with febrile seizures plus, type 6 12.4
74 seizures, cortical blindness, and microcephaly syndrome 12.4
75 epilepsy with myoclonic-atonic seizures 12.4
76 primary aldosteronism, seizures, and neurologic abnormalities 12.4
77 hypomagnesemia, seizures, and mental retardation 2 12.4
78 hypomagnesemia, seizures, and mental retardation 1 12.4
79 seizures, benign familial infantile, 5 12.4
80 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 12.4
81 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 12.4
82 mental retardation, x-linked, with or without seizures, arx-related 12.3
83 neurodevelopmental disorder with absent language and variable seizures 12.3
84 epilepsy with generalized tonic-clonic seizures 12.3
85 seizures, benign familial neonatal, 2 12.3
86 neurodevelopmental disorder with cerebellar atrophy and with or without seizures 12.3
87 acute encephalopathy with biphasic seizures and late reduced diffusion 12.3
88 febrile seizures, familial, 2 12.3
89 neurodevelopmental disorder with or without seizures and gait abnormalities 12.3
90 febrile seizures, familial, 6 12.3
91 febrile seizures, familial, 5 12.3
92 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 12.3
93 febrile seizures, familial, 7 12.3
94 febrile seizures, familial, 9 12.3
95 febrile seizures, familial, 10 12.3
96 cerebellar atrophy, developmental delay, and seizures 12.3
97 seizures, benign familial infantile, 1 12.3
98 microcephaly, postnatal progressive, with seizures and brain atrophy 12.3
99 spastic paraplegia and psychomotor retardation with or without seizures 12.3
100 familial febrile seizures 12.3
101 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures 12.3
102 intellectual developmental disorder 60 with seizures 12.3
103 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 12.3
104 scn1a-related seizure disorders 12.3
105 arthrogryposis, mental retardation, and seizures 12.3
106 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 12.3
107 neurodevelopmental disorder with hypotonia, microcephaly, and seizures 12.3
108 developmental delay and seizures with or without movement abnormalities 12.3
109 optic atrophy 10 with or without ataxia, mental retardation, and seizures 12.3
110 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 12.3
111 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 12.3
112 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 12.3
113 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 12.3
114 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 12.3
115 cerebellar atrophy with seizures and variable developmental delay 12.3
116 mental retardation with optic atrophy, deafness, and seizures 12.3
117 pachygyria with mental retardation, seizures, and arachnoid cysts 12.3
118 microcephaly, growth deficiency, seizures, and brain malformations 12.2
119 intellectual developmental disorder with macrocephaly, seizures, and speech delay 12.2
120 audiogenic seizures 12.2
121 neurodevelopmental disorder with hypotonia, seizures, and absent language 12.2
122 neurodevelopmental disorder with seizures and speech and walking impairment 12.2
123 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 12.2
124 seizures, early-onset, with neurodegeneration and brain calcifications 12.2
125 short stature, brachydactyly, intellectual developmental disability, and seizures 12.2
126 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 12.2
127 neurodevelopmental disorder with microcephaly, ataxia, and seizures 12.2
128 neuromuscular disease and ocular or auditory anomalies with or without seizures 12.2
129 mental retardation, autosomal dominant 6, with or without seizures 12.2
130 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 12.2
131 hyperglycinemia, lactic acidosis, and seizures 12.2
132 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis 12.2
133 benign partial epilepsy with secondarily generalized seizures in infancy 12.2
134 kifafa seizure disorder 12.2
135 mental retardation, autosomal dominant 55, with seizures 12.2
136 intellectual developmental disorder with poor growth and with or without seizures or ataxia 12.2
137 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 12.2
138 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 12.2
139 intellectual developmental disorder with autistic features and language delay, with or without seizures 12.1
140 epilepsy, pyridoxine-dependent 12.1
141 benign idiopathic neonatal seizures 12.1
142 cerebral malformation, seizures, hypertrichosis, and overlapping fingers 12.1
143 light fixation seizure syndrome 12.1
144 mental retardation, keratoconus, febrile seizures, and sinoatrial block 12.1
145 seizures, benign familial infantile, 4 12.1
146 benign partial epilepsy of infancy with complex partial seizures 12.1
147 slc12a5-related epilepsy of infancy with migrating focal seizures 12.1
148 scn1a seizure disorders 12.1
149 folinic acid-responsive seizures 12.1
150 orgasm-induced seizures 12.1
151 benign infantile seizures associated with mild gastroenteritis 12.1
152 benign focal seizures of adolescence 12.1
153 hyperphosphatemia, polyuria, and seizures 12.1
154 seizures, benign familial neonatal, autosomal recessive 12.1
155 hypotonia, seizures, and precocious puberty 12.1
156 benign non-familial infantile seizures 12.1
157 thinking seizures 12.1
158 epilepsy, idiopathic generalized 10 12.0
159 pettigrew syndrome 12.0
160 arthrogryposis epileptic seizures migrational brain disorder 12.0
161 seizures, benign familial neonatal, 3 12.0
162 febrile infection-related epilepsy syndrome 12.0
163 mehmo syndrome 12.0
164 myoclonus epilepsy partial seizure 11.9
165 benign partial infantile seizures 11.9
166 micturation-induced seizures 11.9
167 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 11.9
168 microcephaly-seizures-intellectual disability-heart disease syndrome 11.9
169 intellectual disability-seizures-macrocephaly-obesity syndrome 11.9
170 primary hypomagnesemia with refractory seizures and intellectual disability 11.9
171 hypothalamic hamartomas with gelastic seizures 11.9
172 skraban-deardorff syndrome 11.9
173 cerebral creatine deficiency syndrome 1 11.8
174 epileptic encephalopathy, early infantile, 2 11.8
175 hypoparathyroidism-retardation-dysmorphism syndrome 11.8
176 partington x-linked mental retardation syndrome 11.8
177 epilepsy, nocturnal frontal lobe, 4 11.8
178 diencephalic-mesencephalic junction dysplasia syndrome 1 11.8
179 dentatorubral-pallidoluysian atrophy 11.8
180 complex partial epilepsy 11.8
181 stomatin-deficient cryohydrocytosis with neurologic defects 11.7
182 5q31.3 microdeletion syndrome 11.7
183 hyperphosphatasia with mental retardation syndrome 1 11.7
184 lennox-gastaut syndrome 11.7
185 smith-kingsmore syndrome 11.7
186 corpus callosum, agenesis of, with abnormal genitalia 11.7
187 mental retardation, x-linked, syndromic, chudley-schwartz type 11.7
188 glycosylphosphatidylinositol biosynthesis defect 1 11.6
189 mental retardation, autosomal dominant 42 11.6
190 status epilepticus 11.6
191 tranebjaerg svejgaard syndrome 11.6
192 mental retardation, x-linked, syndromic, nascimento type 11.6
193 qazi markouizos syndrome 11.6
194 pura-related neurodevelopmental disorders 11.6
195 juvenile absence epilepsy 11.6
196 combined oxidative phosphorylation deficiency 31 11.5
197 pilarowski-bjornsson syndrome 11.5
198 autosomal dominant partial epilepsy with auditory features 11.5
199 benign childhood occipital epilepsy, panayiotopoulos type 11.5
200 autosomal dominant nocturnal frontal lobe epilepsy 11.5
201 vulto-van silfhout-de vries syndrome 11.5
202 hypoparathyroidism-intellectual disability-dysmorphism syndrome 11.5
203 mental retardation, autosomal dominant 31 11.5
204 microcephaly micropenis convulsions 11.5
205 sturge-weber syndrome 11.5
206 chd2-related neurodevelopmental disorders 11.5
207 new-onset refractory status epilepticus 11.5
208 glycosylphosphatidylinositol biosynthesis defect 15 11.4
209 grin2b-related neurodevelopmental disorder 11.4
210 al gazali sabrinathan nair syndrome 11.4
211 convulsions benign familial neonatal dominant form 11.4
212 epilepsy, familial temporal lobe, 2 11.4
213 rett syndrome 11.4
214 stxbp1 encephalopathy with epilepsy 11.4
215 epilepsy, focal, with speech disorder and with or without mental retardation 11.4
216 ring chromosome 20 11.4
217 grin1-related neurodevelopmental disorder 11.4
218 myoclonic-astastic epilepsy 11.4
219 convulsions, familial infantile, with paroxysmal choreoathetosis 11.4
220 mitochondrial dna depletion syndrome 4a 11.4
221 progressive myoclonus epilepsy, lafora type 11.4
222 epileptic encephalopathy, early infantile, 13 11.4
223 angelman syndrome 11.4
224 centralopathic epilepsy 11.4
225 myoclonic epilepsy of lafora 11.4
226 hemimegalencephaly 11.4
227 aicardi syndrome 11.4
228 phosphoglycerate dehydrogenase deficiency 11.3
229 scn8a-related epilepsy with encephalopathy 11.3
230 cysticercosis 11.3
231 ohtahara syndrome 11.3
232 alexander disease 11.3
233 epilepsy, juvenile absence 1 11.3
234 band heterotopia 11.3
235 encephalopathy 11.3
236 traumatic brain injury 11.3
237 lissencephaly 1 11.3
238 hypothalamic hamartomas 11.3
239 eclampsia 11.3
240 maple syrup urine disease 11.3
241 tay-sachs disease 11.3
242 epileptic encephalopathy, early infantile, 1 11.3
243 wolf-hirschhorn syndrome 11.3
244 kohlschutter-tonz syndrome 11.3
245 peroxisomal acyl-coa oxidase deficiency 11.3
246 tuberous sclerosis 11.3
247 myoclonic-atonic epilepsy 11.3
248 succinic semialdehyde dehydrogenase deficiency 11.3
249 d-bifunctional protein deficiency 11.3
250 lubs x-linked mental retardation syndrome 11.3
251 glycine encephalopathy 11.3
252 glut1 deficiency syndrome 1 11.3
253 epilepsy, familial focal, with variable foci 4 11.3
254 cerebral cavernous malformations 11.3
255 microcephaly 11.3
256 epilepsy, benign occipital 11.3
257 epileptic encephalopathy, early infantile, 4 11.3
258 cerebral creatine deficiency syndrome 2 11.3
259 asparagine synthetase deficiency 11.3
260 epilepsy, idiopathic generalized 14 11.3
261 cerebral palsy 11.3
262 eating reflex epilepsy 11.3
263 head injury 11.3
264 landau-kleffner syndrome 11.3
265 glucose transporter type 1 deficiency syndrome 11.3
266 schizencephaly 11.3
267 epilepsy, familial focal, with variable foci 1 11.3
268 epilepsy, reading 11.3
269 boudhina yedes khiari syndrome 11.3
270 lethal neonatal spasticity-epileptic encephalopathy syndrome 11.3
271 polymicrogyria 11.3
272 tuberous sclerosis 1 11.2
273 2-hydroxyglutaric aciduria 11.2
274 mesial temporal lobe epilepsy with hippocampal sclerosis 11.2
275 metachromatic leukodystrophy 11.2
276 leigh syndrome 11.2
277 epilepsy, familial temporal lobe, 1 11.2
278 adenylosuccinase deficiency 11.2
279 temtamy syndrome 11.2
280 ring chromosome 14 syndrome 11.2
281 epileptic encephalopathy, early infantile, 34 11.2
282 epileptic encephalopathy, early infantile, 3 11.2
283 sulfite oxidase deficiency, isolated 11.2
284 pitt-hopkins syndrome 11.2
285 epileptic encephalopathy, early infantile, 11 11.2
286 epileptic encephalopathy, early infantile, 12 11.2
287 epileptic encephalopathy, early infantile, 16 11.2
288 epileptic encephalopathy, infantile or early childhood, 1 11.2
289 pre-eclampsia 11.2
290 alcohol use disorder 11.2
291 systemic lupus erythematosus 11.2
292 arteriovenous malformation 11.2
293 moyamoya disease 1 11.2
294 biotinidase deficiency 11.2
295 myoclonic epilepsy of unverricht and lundborg 11.2
296 fragile x syndrome 11.2
297 choreoacanthocytosis 11.2
298 citrullinemia, classic 11.2
299 insensitivity to pain, congenital, with anhidrosis 11.2
300 propionic acidemia 11.2
301 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.2
302 chromosome 15q13.3 deletion syndrome 11.2
303 kbg syndrome 11.2
304 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 11.2
305 epileptic encephalopathy, early infantile, 36 11.2
306 neuropathy, ataxia, and retinitis pigmentosa 11.2
307 megalencephalic leukoencephalopathy with subcortical cysts 1 11.2
308 thiamine metabolism dysfunction syndrome 2 11.2
309 chromosome 1p36 deletion syndrome 11.2
310 epilepsy, familial adult myoclonic, 2 11.2
311 encephalocraniocutaneous lipomatosis 11.2
312 epileptic encephalopathy, early infantile, 53 11.2
313 epileptic encephalopathy, early infantile, 67 11.2
314 epileptic encephalopathy, early infantile, 78 11.2
315 poirier-bienvenu neurodevelopmental syndrome 11.2
316 christianson syndrome 11.2
317 cerebral cavernous malformation, familial 11.2
318 limbic encephalitis with lgi1 antibodies 11.2
319 brain injury 11.2
320 meningioma, familial 11.2
321 subacute sclerosing panencephalitis 11.2
322 hypoparathyroidism 11.2
323 rickets 11.2
324 periventricular nodular heterotopia 11.2
325 incontinentia pigmenti 11.2
326 porencephaly 11.2
327 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 11.2
328 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 11.2
329 phenylketonuria 11.2
330 jeavons syndrome 11.2
331 reye syndrome 11.1
332 corpus callosum, agenesis of 11.1
333 cerebral atrophy 11.1
334 brain edema 11.1
335 salt and pepper developmental regression syndrome 11.1
336 epilepsy-aphasia spectrum 11.1
337 pallister-hall syndrome 11.1
338 septooptic dysplasia 11.1
339 lissencephaly, x-linked, 1 11.1
340 ifap syndrome with or without bresheck syndrome 11.1
341 epilepsy, childhood absence 1 11.1
342 molybdenum cofactor deficiency 11.1
343 mbd5 haploinsufficiency 11.1
344 neonatal adrenoleukodystrophy 11.1
345 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 11.1
346 krabbe disease 11.1
347 mental retardation, x-linked, syndromic, houge type 11.1
348 menkes disease 11.1
349 d-2-hydroxyglutaric aciduria 1 11.1
350 ayme-gripp syndrome 11.1
351 gaba-transaminase deficiency 11.1
352 hyperprolinemia 11.1
353 hydranencephaly 11.1
354 prickle1-related progressive myoclonus epilepsy with ataxia 11.1
355 iqsec2 11.1
356 cortical dysplasia, complex, with other brain malformations 10 11.1
357 photosensitive epilepsy 11.1
358 porphyria 11.1
359 glioma 11.1
360 lipoid proteinosis of urbach and wiethe 11.1
361 melanosis, neurocutaneous 11.1
362 muscular dystrophy-dystroglycanopathy , type a, 4 11.1
363 cerebroretinal microangiopathy with calcifications and cysts 1 11.1
364 epileptic encephalopathy, early infantile, 18 11.1
365 colpocephaly 11.1
366 chromosome 15q11-q13 duplication syndrome 11.1
367 kcnq2-related disorders 11.1
368 lissencephaly 11.1
369 neurodegeneration with brain iron accumulation 5 11.1
370 episodic kinesigenic dyskinesia 1 11.1
371 arachnoid cysts, intracranial 11.1
372 familial hemiplegic migraine 11.1
373 antiphospholipid syndrome 11.1
374 hydrocephalus 11.1
375 arteriovenous malformations of the brain 11.1
376 hypoxia 11.1
377 meningitis 11.1
378 alternating hemiplegia of childhood 11.1
379 pachygyria 11.1
380 autism 16 11.1
381 epilepsy, idiopathic generalized 15 11.1
382 huntington disease 11.1
383 focal cortical dysplasia, type ii 11.1
384 brugada syndrome 11.1
385 spinal meningioma 11.1
386 shigellosis 11.1
387 long qt syndrome 1 11.1
388 megalencephaly 11.1
389 alkuraya-kucinskas syndrome 11.1
390 episodic ataxia 11.1
391 reversible cerebral vasoconstriction syndrome 11.1
392 limbic encephalitis 11.1
393 dandy-walker syndrome 11.1
394 hyperekplexia 11.1
395 spinal muscular atrophy with progressive myoclonic epilepsy 11.1
396 continuous spike-wave during slow sleep syndrome 11.1
397 47,xyy 11.1
398 kabuki syndrome 1 11.1
399 l-2-hydroxyglutaric aciduria 11.1
400 neurodegeneration due to cerebral folate transport deficiency 11.1
401 epilepsy, progressive myoclonic, 4, with or without renal failure 11.1
402 adrenoleukodystrophy 11.1
403 oculogyric crisis 11.1
404 hellp syndrome 11.1
405 brain cancer 11.1
406 adrenomyeloneuropathy 11.1
407 measles 11.1
408 sotos syndrome 1 11.0
409 proteus syndrome 11.0
410 chediak-higashi syndrome 11.0
411 gaucher disease, type i 11.0
412 hyperprolinemia, type ii 11.0
413 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 11.0
414 spinocerebellar ataxia 10 11.0
415 phelan-mcdermid syndrome 11.0
416 long qt syndrome 2 11.0
417 epilepsy, familial temporal lobe, 5 11.0
418 hermansky-pudlak syndrome 10 11.0
419 osteopetrosis 11.0
420 craniosynostosis 11.0
421 zellweger syndrome 11.0
422 nodding syndrome 11.0
423 ceroid lipofuscinosis, neuronal, 8 11.0
424 epilepsy, idiopathic generalized 13 11.0
425 epilepsy, juvenile myoclonic 10 11.0
426 viral encephalitis 11.0
427 lupus erythematosus 11.0
428 hyperostosis frontalis interna 11.0
429 paroxysmal extreme pain disorder 11.0
430 agenesis of the corpus callosum with peripheral neuropathy 11.0
431 leukoencephalopathy, hereditary diffuse, with spheroids 11.0
432 glycogen storage disease ia 11.0
433 pseudo-torch syndrome 1 11.0
434 molybdenum cofactor deficiency, complementation group b 11.0
435 papilloma of choroid plexus 11.0
436 canavan disease 11.0
437 xeroderma pigmentosum, variant type 11.0
438 coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome 11.0
439 raynaud-claes syndrome 11.0
440 mental retardation, x-linked, syndromic, cabezas type 11.0
441 epileptic encephalopathy, early infantile, 85, with or without midline brain defects 11.0
442 opitz-kaveggia syndrome 11.0
443 norrie disease 11.0
444 timothy syndrome 11.0
445 hyperinsulinemic hypoglycemia, familial, 2 11.0
446 citrullinemia, type ii, adult-onset 11.0
447 long qt syndrome 3 11.0
448 polyhydramnios, megalencephaly, and symptomatic epilepsy 11.0
449 temple-baraitser syndrome 11.0
450 coenzyme q10 deficiency, primary, 4 11.0
451 mental retardation, autosomal dominant 22 11.0
452 encephalopathy, acute, infection-induced 2 11.0
453 tuberous sclerosis 2 11.0
454 spastic paraplegia 52, autosomal recessive 11.0
455 parkinson disease 20, early-onset 11.0
456 epileptic encephalopathy, early infantile, 28 11.0
457 spastic tetraplegia, thin corpus callosum, and progressive microcephaly 11.0
458 mental retardation, autosomal recessive 53 11.0
459 myoclonus, intractable, neonatal 11.0
460 leukodystrophy, hypomyelinating, 17 11.0
461 neurodevelopmental disorder with impaired speech and hyperkinetic movements 11.0
462 aicardi-goutieres syndrome 11.0
463 primary autosomal recessive microcephaly 11.0
464 barbiturate dependence 11.0
465 flna-related periventricular nodular heterotopia 11.0
466 lama2-related muscular dystrophy 11.0
467 long qt syndrome 11.0
468 autoimmune encephalitis 11.0
469 anoxia 11.0
470 cerebral hypoxia 11.0
471 polymicrogyria with or without vascular-type ehlers-danlos syndrome 11.0
472 oligodendroglioma 11.0
473 epileptic encephalopathy, early infantile, 64 11.0
474 insulinoma 11.0
475 malaria 11.0
476 pseudohypoparathyroidism 11.0
477 basal ganglia calcification, idiopathic, 1 11.0
478 epilepsy, idiopathic generalized 8 11.0
479 epilepsy, idiopathic generalized 12 11.0
480 epileptic encephalopathy, early infantile, 17 11.0
481 epileptic encephalopathy, infantile or early childhood, 2 11.0
482 epilepsy, idiopathic generalized 16 11.0
483 fukuyama type muscular dystrophy 11.0
484 scn2a related disorders 11.0
485 toxoplasmosis 11.0
486 rare epilepsy 11.0
487 digeorge syndrome 11.0
488 cavernous malformation 11.0
489 grade iii astrocytoma 11.0
490 serotonin syndrome 11.0
491 celiac disease 1 11.0
492 encephalocele 11.0
493 exanthema subitum 11.0
494 hypertensive encephalopathy 11.0
495 neuronal migration disorders 11.0
496 creutzfeldt-jakob disease 11.0
497 acute disseminated encephalomyelitis 11.0
498 muscular dystrophy 11.0
499 todd's paralysis 11.0
500 peho syndrome 11.0
501 mitochondrial dna depletion syndrome 7 11.0
502 nicolaides-baraitser syndrome 11.0
503 valproate embryopathy 11.0
504 epileptic encephalopathy, early infantile, 7 11.0
505 epileptic encephalopathy, early infantile, 37 11.0
506 epileptic encephalopathy, early infantile, 69 11.0
507 glossopharyngeal neuralgia 11.0
508 cellular ependymoma 11.0
509 hashimoto encephalopathy 11.0
510 cerebral amyloid angiopathy, cst3-related 10.9
511 gangliocytoma 10.9
512 epilepsy with myoclonic absences 10.9
513 hypophosphatemia 10.9
514 electroclinical syndrome 10.9
515 neurosarcoidosis 10.9
516 anaplastic oligodendroglioma 10.9
517 methemoglobinemia 10.9
518 japanese encephalitis 10.9
519 herpes simplex encephalitis 10.9
520 meningitis and encephalitis 10.9
521 hydroxylysinuria 10.9
522 mental retardation and psoriasis 10.9
523 syndromic x-linked intellectual disability nascimento type 10.9
524 joubert syndrome 1 10.9
525 hyperinsulinemic hypoglycemia, familial, 6 10.9
526 cerebellar hypoplasia 10.9
527 cornelia de lange syndrome 10.9
528 neuroleptic malignant syndrome 10.9
529 kernicterus 10.9
530 hemifacial atrophy, progressive 10.9
531 corpus callosum, partial agenesis of, x-linked 10.9
532 pallister-killian syndrome 10.9
533 pseudohypoparathyroidism, type ib 10.9
534 early onset absence epilepsy 10.9
535 niemann-pick disease 10.9
536 tyrosinemia 10.9
537 diabetes insipidus 10.9
538 cerebrospinal fluid leak 10.9
539 paraneoplastic syndromes 10.9
540 shaken baby syndrome 10.9
541 epilepsy with bilateral occipital calcifications 10.9
542 miller-dieker lissencephaly syndrome 10.9
543 ceroid lipofuscinosis, neuronal, 5 10.9
544 ornithine transcarbamylase deficiency, hyperammonemia due to 10.9
545 carnitine palmitoyltransferase ii deficiency, infantile 10.9
546 encephalopathy, familial, with neuroserpin inclusion bodies 10.9
547 epilepsy, idiopathic generalized 11 10.9
548 pontocerebellar hypoplasia, type 3 10.9
549 aminoacylase 1 deficiency 10.9
550 epilepsy, childhood absence 6 10.9
551 epilepsy, familial adult myoclonic, 5 10.9
552 epileptic encephalopathy, early infantile, 27 10.9
553 epileptic encephalopathy, early infantile, 35 10.9
554 epilepsy, familial focal, with variable foci 2 10.9
555 epilepsy, familial focal, with variable foci 3 10.9
556 epileptic encephalopathy, early infantile, 48 10.9
557 epileptic encephalopathy, early infantile, 49 10.9
558 epileptic encephalopathy, early infantile, 51 10.9
559 epileptic encephalopathy, early infantile, 52 10.9
560 epileptic encephalopathy, early infantile, 65 10.9
561 epileptic encephalopathy, early infantile, 75 10.9
562 hypoparathyroidism, sensorineural deafness, and renal disease 10.9
563 aspartylglucosaminuria 10.9
564 cerebrotendinous xanthomatosis 10.9
565 niemann-pick disease, type c1 10.9
566 hypomelanosis of ito 10.9
567 langerhans cell histiocytosis 10.9
568 hyperinsulinemic hypoglycemia, familial, 4 10.9
569 epilepsy, progressive myoclonic, 1b 10.9
570 hemorrhage, intracerebral 10.9
571 epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta 10.9
572 encephalopathy, progressive, with or without lipodystrophy 10.9
573 gaucher's disease 10.9
574 glycoproteinosis 10.9
575 homocystinuria 10.9
576 anaplastic ependymoma 10.9
577 brain tumor, childhood 10.9
578 congenital hydrocephalus 10.9
579 desmoplastic infantile ganglioglioma 10.9
580 papillary glioneuronal tumors 10.9
581 primary central nervous system lymphoma 10.9
582 superficial siderosis of the central nervous system 10.9
583 sporadic hemiplegic migraine 10.9
584 coproporphyria, hereditary 10.9
585 klippel-trenaunay-weber syndrome 10.9
586 cowden syndrome 1 10.9
587 temporal arteritis 10.9
588 carnosinemia 10.9
589 jervell and lange-nielsen syndrome 1 10.9
590 neuropathy, hereditary sensory and autonomic, type iii 10.9
591 neurodegeneration with brain iron accumulation 1 10.9
592 mowat-wilson syndrome 10.9
593 megalocornea-mental retardation syndrome 10.9
594 3-methylglutaconic aciduria, type i 10.9
595 microcephaly 1, primary, autosomal recessive 10.9
596 mitochondrial complex i deficiency, nuclear type 1 10.9
597 hyperphenylalaninemia, bh4-deficient, c 10.9
598 gm2-gangliosidosis, ab variant 10.9
599 lissencephaly, x-linked, 2 10.9
600 armfield x-linked mental retardation syndrome 10.9
601 hypoparathyroidism, x-linked 10.9
602 pelizaeus-merzbacher disease 10.9
603 cyclic vomiting syndrome 10.9
604 gurrieri syndrome 10.9
605 muscular dystrophy, congenital merosin-deficient, 1a 10.9
606 microcephaly 5, primary, autosomal recessive 10.9
607 epilepsy, familial temporal lobe, 3 10.9
608 chromosome 1q41-q42 deletion syndrome 10.9
609 episodic ataxia, type 6 10.9
610 brain malformations with or without urinary tract defects 10.9
611 microcephaly-capillary malformation syndrome 10.9
612 encephalopathy due to defective mitochondrial and peroxisomal fission 1 10.9
613 osteosclerotic metaphyseal dysplasia 10.9
614 l-ferritin deficiency 10.9
615 hyperphosphatasia with mental retardation syndrome 4 10.9
616 spinocerebellar ataxia 47 10.9
617 mental retardation, autosomal recessive 63 10.9
618 coenzyme q10 deficiency disease 10.9
619 baraitser-winter syndrome 10.9
620 pontocerebellar hypoplasia 10.9
621 griscelli syndrome 10.9
622 familial adult myoclonic epilepsy 10.9
623 multiple personality disorder 10.9
624 hypoglycemic coma 10.9
625 nocardiosis 10.9
626 neonatal jaundice 10.9
627 gliomatosis cerebri 10.9
628 multiple carboxylase deficiency 10.9
629 hemophilia 10.9
630 ap-4-associated hereditary spastic paraplegia 10.9
631 syngap1-related intellectual disability 10.9
632 chromosome 15q duplication 10.9
633 congenital cytomegalovirus 10.9
634 congenital intrauterine infection-like syndrome 10.9
635 lymphomatoid granulomatosis 10.9
636 marchiafava bignami disease 10.9
637 paraneoplastic neurologic disorders 10.9
638 pituitary stalk interruption syndrome 10.9
639 ring chromosome 21 10.9
640 ataxia neuropathy spectrum 10.9
641 intracranial cysts 10.9
642 cyanide poisoning 10.9
643 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 10.9
644 folate malabsorption, hereditary 10.9
645 isovaleric acidemia 10.9
646 malonyl-coa decarboxylase deficiency 10.9
647 holocarboxylase synthetase deficiency 10.9
648 epileptic encephalopathy, early infantile, 8 10.9
649 myoclonic epilepsy associated with ragged-red fibers 10.9
650 hypocalcemia, autosomal dominant 1 10.9
651 megalencephaly-capillary malformation-polymicrogyria syndrome 10.9
652 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 10.9
653 phosphoserine aminotransferase deficiency 10.9
654 epilepsy, familial adult myoclonic, 3 10.9
655 infantile cerebellar-retinal degeneration 10.9
656 combined oxidative phosphorylation deficiency 12 10.9
657 epileptic encephalopathy, childhood-onset 10.9
658 epileptic encephalopathy, early infantile, 19 10.9
659 epileptic encephalopathy, early infantile, 32 10.9
660 epilepsy, familial temporal lobe, 7 10.9
661 epileptic encephalopathy, early infantile, 50 10.9
662 epileptic encephalopathy, early infantile, 47 10.9
663 epilepsy, early-onset, vitamin b6-dependent 10.9
664 epileptic encephalopathy, early infantile, 54 10.9
665 epileptic encephalopathy, early infantile, 56 10.9
666 epileptic encephalopathy, early infantile, 58 10.9
667 epileptic encephalopathy, infantile or early childhood, 3 10.9
668 epileptic encephalopathy, early infantile, 68 10.9
669 epileptic encephalopathy, early infantile, 77 10.9
670 epileptic encephalopathy, early infantile, 79 10.9
671 epileptic encephalopathy, early infantile, 80 10.9
672 epileptic encephalopathy, early infantile, 82 10.9
673 epileptic encephalopathy, early infantile, 83 10.9
674 epileptic encephalopathy, early infantile, 84 10.9
675 spinocerebellar ataxia, autosomal recessive 7 10.8 TPP1 MFSD8 CTSF CLN6
676 epicanthus 10.8 KCNQ2 ATP1A3 ANKRD11
677 dystonia 12 10.8
678 alpha-methylacetoacetic aciduria 10.8
679 microphthalmia, syndromic 3 10.8
680 argininemia 10.8
681 d-glyceric aciduria 10.8
682 dihydropyrimidinase deficiency 10.8
683 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.8
684 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 10.8
685 n-acetylglutamate synthase deficiency 10.8
686 vici syndrome 10.8
687 dihydrolipoamide dehydrogenase deficiency 10.8
688 tyrosinemia, type iii 10.8
689 polymicrogyria, bilateral perisylvian, x-linked 10.8
690 ck syndrome 10.8
691 mcleod syndrome 10.8
692 congenital disorder of glycosylation, type iim 10.8
693 mental retardation, x-linked, syndromic, turner type 10.8
694 chromosome 2q37 deletion syndrome 10.8
695 epilepsy, familial adult myoclonic, 1 10.8
696 hypomagnesemia 1, intestinal 10.8
697 encephalopathy, ethylmalonic 10.8
698 myoclonic epilepsy, familial infantile 10.8
699 spinocerebellar ataxia 13 10.8
700 fumarase deficiency 10.8
701 epilepsy, idiopathic generalized 9 10.8
702 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 10.8
703 2-methylbutyryl-coa dehydrogenase deficiency 10.8
704 pitt-hopkins-like syndrome 1 10.8
705 kleefstra syndrome 1 10.8
706 koolen-de vries syndrome 10.8
707 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 10.8
708 epilepsy, childhood absence 5 10.8
709 spastic paraplegia 35, autosomal recessive 10.8
710 epileptic encephalopathy, early infantile, 39 10.8
711 pontocerebellar hypoplasia, type 2d 10.8
712 megalencephalic leukoencephalopathy with subcortical cysts 2a 10.8
713 hypermethioninemia due to adenosine kinase deficiency 10.8
714 alpha-methylacyl-coa racemase deficiency 10.8
715 spinocerebellar ataxia, autosomal recessive 12 10.8
716 combined oxidative phosphorylation deficiency 11 10.8
717 combined oxidative phosphorylation deficiency 14 10.8
718 combined d-2- and l-2-hydroxyglutaric aciduria 10.8
719 pontocerebellar hypoplasia, type 10 10.8
720 pontocerebellar hypoplasia, type 9 10.8
721 webb-dattani syndrome 10.8
722 epileptic encephalopathy, early infantile, 26 10.8
723 epilepsy, familial temporal lobe, 8 10.8
724 achondroplasia, severe, with developmental delay and acanthosis nigricans 10.8
725 shashi-pena syndrome 10.8
726 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 10.8
727 epileptic encephalopathy, early infantile, 55 10.8
728 multiple mitochondrial dysfunctions syndrome 5 10.8
729 mental retardation, autosomal recessive 61 10.8
730 combined oxidative phosphorylation deficiency 35 10.8
731 epileptic encephalopathy, early infantile, 59 10.8
732 epileptic encephalopathy, early infantile, 60 10.8
733 epileptic encephalopathy, early infantile, 61 10.8
734 epileptic encephalopathy, early infantile, 62 10.8
735 epileptic encephalopathy, early infantile, 66 10.8
736 epileptic encephalopathy, early infantile, 71 10.8
737 epileptic encephalopathy, early infantile, 76 10.8
738 epileptic encephalopathy, early infantile, 81 10.8
739 la crosse encephalitis 10.8
740 walker-warburg syndrome 10.8
741 multiple mitochondrial dysfunctions syndrome 10.8
742 neurodegeneration with brain iron accumulation 10.8
743 progressive myoclonus epilepsy 6 10.8
744 mucopolysaccharidosis iii 10.8
745 triple x syndrome 10.8
746 biotin-thiamine-responsive basal ganglia disease 10.8
747 free sialic acid storage disorders 10.8
748 giant axonal neuropathy 10.8
749 papular epidermal nevi with skyline basal cell layers syndrome 10.8
750 temporal epilepsy, familial 10.8
751 generalized gangliosidoses 10.8
752 amyloidosis, hereditary, transthyretin-related 10.7
753 progressive familial heart block, type ii 10.7
754 skin creases, congenital symmetric circumferential, 1 10.7
755 greig cephalopolysyndactyly syndrome 10.7
756 brain small vessel disease 1 with or without ocular anomalies 10.7
757 acrocallosal syndrome 10.7
758 acyl-coa dehydrogenase, short-chain, deficiency of 10.7
759 argininosuccinic aciduria 10.7
760 carnitine-acylcarnitine translocase deficiency 10.7
761 peroxisome biogenesis disorder 2a 10.7
762 hyperlysinemia, type i 10.7
763 woodhouse-sakati syndrome 10.7
764 3-hydroxy-3-methylglutaryl-coa lyase deficiency 10.7
765 mannosidosis, beta a, lysosomal 10.7
766 galloway-mowat syndrome 1 10.7
767 molybdenum cofactor deficiency, complementation group a 10.7
768 carnitine palmitoyltransferase i deficiency 10.7
769 neurodegeneration with brain iron accumulation 2a 10.7
770 lissencephaly 2 10.7
771 osteopetrosis, autosomal recessive 1 10.7
772 glutathione synthetase deficiency 10.7
773 pyruvate carboxylase deficiency 10.7
774 sandhoff disease 10.7
775 sialuria 10.7
776 sjogren-larsson syndrome 10.7
777 filippi syndrome 10.7
778 dihydropyrimidine dehydrogenase deficiency 10.7
779 stocco dos santos x-linked mental retardation syndrome 10.7
780 hsd10 mitochondrial disease 10.7
781 rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked 10.7
782 mental retardation, x-linked, syndromic, wu type 10.7
783 mental retardation, x-linked, syndromic 32 10.7
784 mental retardation, x-linked 98 10.7
785 mental retardation, x-linked, syndromic, bain type 10.7
786 shukla-vernon syndrome 10.7
787 borjeson-forssman-lehmann syndrome 10.7
788 masa syndrome 10.7
789 lowe oculocerebrorenal syndrome 10.7
790 microphthalmia, syndromic 1 10.7
791 linear skin defects with multiple congenital anomalies 1 10.7
792 pyruvate dehydrogenase e1-alpha deficiency 10.7
793 dystonia 9 10.7
794 desmosterolosis 10.7
795 congenital disorder of glycosylation, type ic 10.7
796 hemophagocytic lymphohistiocytosis, familial, 2 10.7
797 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.7
798 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.7
799 polymicrogyria, bilateral frontoparietal 10.7
800 cinca syndrome 10.7
801 spinocerebellar ataxia 17 10.7
802 coenzyme q10 deficiency, primary, 1 10.7
803 congenital disorder of glycosylation, type ie 10.7
804 carnitine palmitoyltransferase ii deficiency, lethal neonatal 10.7
805 pontocerebellar hypoplasia, type 5 10.7
806 leukodystrophy, hypomyelinating, 5 10.7
807 mitochondrial complex i deficiency, nuclear type 20 10.7
808 microphthalmia, syndromic 10 10.7
809 isobutyryl-coa dehydrogenase deficiency 10.7
810 lissencephaly 3 10.7
811 leukodystrophy, hypomyelinating, 6 10.7
812 chromosome 1q21.1 deletion syndrome, 1.35-mb 10.7
813 chromosome 1q21.1 duplication syndrome 10.7
814 leukoencephalopathy, cystic, without megalencephaly 10.7
815 beta-ureidopropionase deficiency 10.7
816 epilepsy, hot water, 1 10.7
817 megaloblastic anemia due to dihydrofolate reductase deficiency 10.7
818 epilepsy, progressive myoclonic, 6 10.7
819 cortical malformations, occipital 10.7
820 combined malonic and methylmalonic aciduria 10.7
821 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 10.7
822 ichthyosis, spastic quadriplegia, and mental retardation 10.7
823 brain small vessel disease 2 10.7
824 hyperphosphatasia with mental retardation syndrome 2 10.7
825 peroxisome biogenesis disorder 3a 10.7
826 peroxisome biogenesis disorder 4a 10.7
827 peroxisome biogenesis disorder 5a 10.7
828 peroxisome biogenesis disorder 6a 10.7
829 peroxisome biogenesis disorder 7a 10.7
830 peroxisome biogenesis disorder 8a 10.7
831 peroxisome biogenesis disorder 10a 10.7
832 peroxisome biogenesis disorder 11a 10.7
833 peroxisome biogenesis disorder 12a 10.7
834 peroxisome biogenesis disorder 13a 10.7
835 myoclonus, familial, 1 10.7
836 epilepsy, nocturnal frontal lobe, 5 10.7
837 epileptic encephalopathy, early infantile, 15 10.7
838 schuurs-hoeijmakers syndrome 10.7
839 congenital disorder of glycosylation, type iu 10.7
840 epilepsy, familial adult myoclonic, 4 10.7
841 lissencephaly 5 10.7
842 hydrocephalus, congenital, 2, with or without brain or eye anomalies 10.7
843 congenital disorder of deglycosylation 10.7
844 muscular dystrophy-dystroglycanopathy , type b, 14 10.7
845 muscular dystrophy-dystroglycanopathy , type c, 14 10.7
846 infantile liver failure syndrome 1 10.7
847 triosephosphate isomerase deficiency 10.7
848 chromosome 15q11.2 deletion syndrome 10.7
849 polymicrogyria, bilateral perisylvian, autosomal recessive 10.7
850 xia-gibbs syndrome 10.7
851 pontocerebellar hypoplasia, type 2e 10.7
852 glycosylphosphatidylinositol biosynthesis defect 11 10.7
853 combined oxidative phosphorylation deficiency 24 10.7
854 3-methylglutaconic aciduria, type vii 10.7
855 epileptic encephalopathy, early infantile, 29 10.7
856 epileptic encephalopathy, early infantile, 30 10.7
857 lissencephaly 7 with cerebellar hypoplasia 10.7
858 epileptic encephalopathy, early infantile, 31 10.7
859 epileptic encephalopathy, early infantile, 33 10.7
860 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 10.7
861 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 10.7
862 hyperphosphatasia with mental retardation syndrome 6 10.7
863 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 10.7
864 macrocephaly, dysmorphic facies, and psychomotor retardation 10.7
865 epileptic encephalopathy, early infantile, 38 10.7
866 pontocerebellar hypoplasia, type 2f 10.7
867 epileptic encephalopathy, early infantile, 40 10.7
868 encephalopathy due to defective mitochondrial and peroxisomal fission 2 10.7
869 epileptic encephalopathy, early infantile, 41 10.7
870 epileptic encephalopathy, early infantile, 42 10.7
871 epileptic encephalopathy, early infantile, 43 10.7
872 epileptic encephalopathy, early infantile, 44 10.7
873 epileptic encephalopathy, early infantile, 45 10.7
874 epileptic encephalopathy, early infantile, 46 10.7
875 intellectual developmental disorder with cardiac arrhythmia 10.7
876 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 10.7
877 periventricular nodular heterotopia 7 10.7
878 3-methylglutaconic aciduria, type viii 10.7
879 lissencephaly 8 10.7
880 intellectual developmental disorder with dysmorphic facies and ptosis 10.7
881 pseudo-torch syndrome 2 10.7
882 muscular dystrophy, congenital, with cataracts and intellectual disability 10.7
883 peho-like syndrome 10.7
884 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 10.7
885 3-methylglutaconic aciduria, type ix 10.7
886 epileptic encephalopathy, early infantile, 57 10.7
887 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 10.7
888 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 10.7
889 epileptic encephalopathy, early infantile, 63 10.7
890 jaberi-elahi syndrome 10.7
891 glycosylphosphatidylinositol biosynthesis defect 17 10.7
892 hyperekplexia 4 10.7
893 epilepsy, familial adult myoclonic, 6 10.7
894 epilepsy, familial adult myoclonic, 7 10.7
895 encephalitis/encephalopathy, mild, with reversible myelin vacuolization 10.7
896 muscular dystrophy, limb-girdle, autosomal recessive 23 10.7
897 glycosylphosphatidylinositol biosynthesis defect 18 10.7
898 bone marrow failure syndrome 5 10.7
899 cortical dysplasia, complex, with other brain malformations 9 10.7
900 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 10.7
901 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 10.7
902 epileptic encephalopathy, early infantile, 70 10.7
903 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 10.7
904 combined oxidative phosphorylation deficiency 37 10.7
905 galloway-mowat syndrome 8 10.7
906 epileptic encephalopathy, early infantile, 72 10.7
907 epileptic encephalopathy, early infantile, 73 10.7
908 epileptic encephalopathy, early infantile, 74 10.7
909 intellectual developmental disorder, autosomal recessive 70 10.7
910 leukodystrophy, hypomyelinating, 18 10.7
911 encephalopathy, acute, infection-induced 9 10.7
912 brain abnormalities, neurodegeneration, and dysosteosclerosis 10.7
913 congenital hypotonia, epilepsy, developmental delay, and digital anomalies 10.7
914 o'donnell-luria-rodan syndrome 10.7
915 pontocerebellar hypoplasia, type 13 10.7
916 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 10.7
917 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 10.7
918 arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum 10.7
919 spastic paraplegia 81, autosomal recessive 10.7
920 epilepsy, progressive myoclonic, 11 10.7
921 primary amebic meningoencephalitis 10.7
922 3-methylcrotonyl-coa carboxylase deficiency 10.7
923 cerebral creatine deficiency syndrome 10.7
924 syndromic x-linked intellectual disability snyder type 10.7
925 familial glucocorticoid deficiency 10.7
926 mosaic variegated aneuploidy syndrome 10.7
927 galloway-mowat syndrome 10.7
928 congenital toxoplasmosis 10.7
929 rhizomelic chondrodysplasia punctata 10.7
930 tetrahydrobiopterin deficiency 10.7
931 7q11.23 duplication syndrome 10.7
932 zellweger spectrum disorder 10.7
933 2-methyl-3-hydroxybutyric aciduria 10.7
934 3-alpha hydroxyacyl-coa dehydrogenase deficiency 10.7
935 absence of septum pellucidum 10.7
936 cask-related disorders 10.7
937 deaf1-associated disorders 10.7
938 familial porencephaly 10.7
939 foxg1 syndrome 10.7
940 hhv-6 encephalitis 10.7
941 hivep2-related intellectual disability 10.7
942 lujan syndrome 10.7
943 med13l haploinsufficiency syndrome 10.7
944 methylmalonic acidemia with homocystinuria 10.7
945 proximal chromosome 18q deletion syndrome 10.7
946 wyburn-mason syndrome 10.7
947 x-linked lissencephaly with abnormal genitalia 10.7
948 cask-related intellectual disability 10.7
949 mecp2-related severe neonatal encephalopathy 10.7
950 slc35a2-congenital disorder of glycosylation 10.7
951 schindler disease 10.7
952 myoclonic epilepsy myopathy sensory ataxia 10.7
953 idiopathic hemiconvulsion-hemiplegia syndrome 10.7
954 epilepsy, partial, familial 10.7
955 syncope 10.7
956 ocular motor apraxia 10.6
957 ataxia and polyneuropathy, adult-onset 10.6
958 adiposis dolorosa 10.6
959 cardiofaciocutaneous syndrome 1 10.6
960 copper deficiency, familial benign 10.6
961 diabetes insipidus, neurohypophyseal 10.6
962 dystonia 1, torsion, autosomal dominant 10.6
963 hypoparathyroidism, familial isolated, 1 10.6
964 trichorhinophalangeal syndrome, type ii 10.6
965 schimmelpenning-feuerstein-mims syndrome 10.6
966 oculocerebrocutaneous syndrome 10.6
967 osteopetrosis, autosomal dominant 2 10.6
968 recombinant chromosome 8 syndrome 10.6
969 say syndrome 10.6
970 sneddon syndrome 10.6
971 suprabulbar paresis, congenital 10.6
972 acth deficiency, isolated 10.6
973 acyl-coa dehydrogenase, medium-chain, deficiency of 10.6
974 pseudohypoparathyroidism, type ii 10.6
975 alpha-ketoglutarate dehydrogenase deficiency 10.6
976 atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease 10.6
977 microcephalic osteodysplastic primordial dwarfism, type i 10.6
978 bowen-conradi syndrome 10.6
979 congenital disorder of glycosylation, type ia 10.6
980 peroxisome biogenesis disorder 1a 10.6
981 craniotelencephalic dysplasia 10.6
982 cutis laxa, autosomal recessive, type iia 10.6
983 aicardi-goutieres syndrome 1 10.6
984 pontocerebellar hypoplasia, type 4 10.6
985 farber lipogranulomatosis 10.6
986 fountain syndrome 10.6
987 fructose intolerance, hereditary 10.6
988 fucosidosis 10.6
989 gm1-gangliosidosis, type i 10.6
990 gm1-gangliosidosis, type ii 10.6
991 gaucher disease, type ii 10.6
992 3-hydroxyacyl-coa dehydrogenase deficiency 10.6
993 glutathionuria 10.6
994 glycogen storage disease ib 10.6
995 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.6
996 hyperbilirubinemia, transient familial neonatal 10.6
997 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.6
998 glycogen storage disease 0, liver 10.6
999 hypoinsulinemic hypoglycemia with hemihypertrophy 10.6
1000 baraitser-winter syndrome 1 10.6
1001 succinyl-coa:3-oxoacid-coa transferase deficiency 10.6
1002 keutel syndrome 10.6
1003 metachromatic leukodystrophy due to saposin b deficiency 10.6
1004 3-hydroxyisobutyryl-coa hydrolase deficiency 10.6
1005 homocystinuria-megaloblastic anemia, cblg complementation type 10.6
1006 3-methylglutaconic aciduria, type iv 10.6
1007 mitochondrial myopathy with lactic acidosis 10.6
1008 mucopolysaccharidosis, type iiia 10.6
1009 mucopolysaccharidosis, type iiib 10.6
1010 mucopolysaccharidosis, type iiic 10.6
1011 mucopolysaccharidosis, type iiid 10.6
1012 galactosialidosis 10.6
1013 oliver syndrome 10.6
1014 gyrate atrophy of choroid and retina 10.6
1015 osteopetrosis, autosomal recessive 2 10.6
1016 osteopetrosis, autosomal recessive 5 10.6
1017 osteopetrosis, autosomal recessive 3 10.6
1018 osteoporosis-pseudoglioma syndrome 10.6
1019 hyperphenylalaninemia, bh4-deficient, a 10.6
1020 hemophagocytic lymphohistiocytosis, familial, 1 10.6
1021 schinzel-giedion midface retraction syndrome 10.6
1022 spastic ataxia, charlevoix-saguenay type 10.6
1023 multiple sulfatase deficiency 10.6
1024 thrombotic thrombocytopenic purpura, hereditary 10.6
1025 tricarboxylic acid cycle, defect of 10.6
1026 tyrosinemia, type i 10.6
1027 methylmalonic aciduria and homocystinuria, cblf type 10.6
1028 methylmalonic aciduria and homocystinuria, cbld type 10.6
1029 wrinkly skin syndrome 10.6
1030 xeroderma pigmentosum, complementation group a 10.6
1031 xeroderma pigmentosum, complementation group c 10.6
1032 xeroderma pigmentosum, complementation group e 10.6
1033 xeroderma pigmentosum, complementation group f 10.6
1034 xeroderma pigmentosum, complementation group g 10.6
1035 periventricular nodular heterotopia 1 10.6
1036 mental retardation, x-linked, syndromic, christianson type 10.6
1037 mental retardation, x-linked, syndromic, hedera type 10.6
1038 deafness, dystonia, and cerebral hypomyelination 10.6
1039 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 10.6
1040 mental retardation, x-linked, syndromic, claes-jensen type 10.6
1041 phosphoglycerate kinase 1 deficiency 10.6
1042 encephalopathy, neonatal severe, due to mecp2 mutations 10.6
1043 chromosome xp11.23-p11.22 duplication syndrome 10.6
1044 combined oxidative phosphorylation deficiency 6 10.6
1045 mental retardation, x-linked 101 10.6
1046 congenital disorder of glycosylation, type iy 10.6
1047 linear skin defects with multiple congenital anomalies 3 10.6
1048 trichothiodystrophy 5, nonphotosensitive 10.6
1049 mental retardation, x-linked 12 10.6
1050 immunodeficiency 47 10.6
1051 galloway-mowat syndrome 2, x-linked 10.6
1052 wieacker-wolff syndrome, female-restricted 10.6
1053 hydrocephalus with cerebellar agenesis 10.6
1054 renpenning syndrome 1 10.6
1055 mental retardation, x-linked, syndromic, snyder-robinson type 10.6
1056 myopathy, centronuclear, x-linked 10.6
1057 pallister w syndrome 10.6
1058 waisman syndrome 10.6
1059 spastic paraplegia 2, x-linked 10.6
1060 wieacker-wolff syndrome 10.6
1061 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 10.6
1062 athabaskan brainstem dysgenesis syndrome 10.6
1063 epilepsy, nocturnal frontal lobe, 2 10.6
1064 cerebral cavernous malformations 2 10.6
1065 cerebral cavernous malformations 3 10.6
1066 neuronal intranuclear inclusion disease 10.6
1067 hemophagocytic lymphohistiocytosis, familial, 4 10.6
1068 congenital cataracts, facial dysmorphism, and neuropathy 10.6
1069 bohring-opitz syndrome 10.6
1070 epilepsy, nocturnal frontal lobe, 3 10.6
1071 citrullinemia, type ii, neonatal-onset 10.6
1072 congenital disorder of glycosylation, type iib 10.6
1073 acute hemorrhagic leukoencephalitis 10.6
1074 congenital disorder of glycosylation, type ig 10.6
1075 moyamoya disease 2 10.6
1076 microcephaly, amish type 10.6
1077 niemann-pick disease, type c2 10.6
1078 osteopetrosis, autosomal dominant 1 10.6
1079 congenital disorder of glycosylation, type ij 10.6
1080 congenital disorder of glycosylation, type ih 10.6
1081 capillary malformation-arteriovenous malformation 1 10.6
1082 congenital disorder of glycosylation, type ik 10.6
1083 pyruvate dehydrogenase phosphatase deficiency 10.6
1084 leukodystrophy, hypomyelinating, 2 10.6
1085 hemophagocytic lymphohistiocytosis, familial, 3 10.6
1086 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 10.6
1087 combined oxidative phosphorylation deficiency 1 10.6
1088 congenital disorder of glycosylation, type if 10.6
1089 schindler disease, type i 10.6
1090 spinocerebellar ataxia 27 10.6
1091 mitochondrial dna depletion syndrome 2 10.6
1092 obesity, early-onset, with adrenal insufficiency and red hair 10.6
1093 glutamine deficiency, congenital 10.6
1094 cortical dysplasia, complex, with other brain malformations 7 10.6
1095 microphthalmia, syndromic 5 10.6
1096 mevalonic aciduria 10.6
1097 encephalopathy, acute, infection-induced 1 10.6
1098 neutropenia, severe congenital, 3, autosomal recessive 10.6
1099 congenital disorder of glycosylation, type im 10.6
1100 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 10.6
1101 osteopetrosis, autosomal recessive 4 10.6
1102 osteopetrosis, autosomal recessive 6 10.6
1103 pontocerebellar hypoplasia, type 6 10.6
1104 hypomagnesemia 4, renal 10.6
1105 long qt syndrome 9 10.6
1106 long qt syndrome 11 10.6
1107 ventricular tachycardia, catecholaminergic polymorphic, 2 10.6
1108 mitochondrial dna depletion syndrome 5 10.6
1109 mitochondrial dna depletion syndrome 8a 10.6
1110 glut1 deficiency syndrome 2 10.6
1111 osteopetrosis, autosomal recessive 7 10.6
1112 glass syndrome 10.6
1113 pontocerebellar hypoplasia, type 2c 10.6
1114 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.6
1115 cerebral creatine deficiency syndrome 3 10.6
1116 porphyria, acute hepatic 10.6
1117 long qt syndrome 12 10.6
1118 hemophagocytic lymphohistiocytosis, familial, 5 10.6
1119 nephronophthisis-like nephropathy 1 10.6
1120 cortical dysplasia, complex, with other brain malformations 8 10.6
1121 mental retardation, autosomal dominant 20 10.6
1122 epileptic encephalopathy, early infantile, 5 10.6
1123 long qt syndrome 13 10.6
1124 congenital disorder of glycosylation, type ip 10.6
1125 long qt syndrome 6 10.6
1126 long qt syndrome 5 10.6
1127 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 10.6
1128 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 10.6
1129 chromosome 3pter-p25 deletion syndrome 10.6
1130 obesity, hyperphagia, and developmental delay 10.6
1131 moyamoya disease 5 10.6
1132 n-acetylaspartate deficiency 10.6
1133 nescav syndrome 10.6
1134 tetrasomy 18p 10.6
1135 thiamine metabolism dysfunction syndrome 5 10.6
1136 mental retardation, autosomal recessive 34, with variant lissencephaly 10.6
1137 psychomotor retardation, epilepsy, and craniofacial dysmorphism 10.6
1138 chromosome 17q12 duplication syndrome 10.6
1139 leukoencephalopathy, brain calcifications, and cysts 10.6
1140 mental retardation, autosomal dominant 13 10.6
1141 congenital disorder of glycosylation, type iil 10.6
1142 baraitser-winter syndrome 2 10.6
1143 coenzyme q10 deficiency, primary, 3 10.6
1144 coenzyme q10 deficiency, primary, 5 10.6
1145 nephronophthisis 15 10.6
1146 encephalopathy, acute, infection-induced 5 10.6
1147 encephalopathy, acute, infection-induced 6 10.6
1148 spastic paraplegia 53, autosomal recessive 10.6
1149 ventricular tachycardia, catecholaminergic polymorphic, 4 10.6
1150 basal ganglia calcification, idiopathic, 4 10.6
1151 spastic paraplegia 56, autosomal recessive 10.6
1152 spastic paraplegia 49, autosomal recessive 10.6
1153 spastic paraplegia 54, autosomal recessive 10.6
1154 spastic paraplegia 55, autosomal recessive 10.6
1155 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 10.6
1156 maple syrup urine disease, mild variant 10.6
1157 cortical dysplasia, complex, with other brain malformations 2 10.6
1158 multiple mitochondrial dysfunctions syndrome 3 10.6
1159 hypocalcemia, autosomal dominant 2 10.6
1160 cortical dysplasia, complex, with other brain malformations 4 10.6
1161 hartsfield syndrome 10.6
1162 mitochondrial dna depletion syndrome 13 10.6
1163 basal ganglia calcification, idiopathic, 5 10.6
1164 molybdenum cofactor deficiency, complementation group c 10.6
1165 parkinson disease 19a, juvenile-onset 10.6
1166 periventricular nodular heterotopia 6 10.6
1167 congenital disorder of glycosylation, type iw 10.6
1168 congenital disorder of glycosylation, type ix 10.6
1169 spastic paraplegia 57, autosomal recessive 10.6
1170 moyamoya disease 6 with or without achalasia 10.6
1171 cortical dysplasia, complex, with other brain malformations 5 10.6
1172 immunodeficiency 23 10.6
1173 epileptic encephalopathy, early infantile, 21 10.6
1174 epileptic encephalopathy, early infantile, 24 10.6
1175 helsmoortel-van der aa syndrome 10.6
1176 tatton-brown-rahman syndrome 10.6
1177 mental retardation, autosomal recessive 44 10.6
1178 immunodeficiency 26 with or without neurologic abnormalities 10.6
1179 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 10.6
1180 microcephaly, short stature, and impaired glucose metabolism 1 10.6
1181 mental retardation, autosomal recessive 46 10.6
1182 peroxisomal fatty acyl-coa reductase 1 disorder 10.6
1183 epilepsy, progressive myoclonic 7 10.6
1184 epilepsy, progressive myoclonic, 8 10.6
1185 multiple mitochondrial dysfunctions syndrome 4 10.6
1186 basal ganglia calcification, idiopathic, 6 10.6
1187 infantile liver failure syndrome 2 10.6
1188 encephalopathy, acute, infection-induced 7 10.6
1189 epilepsy, progressive myoclonic, 9 10.6
1190 cerebrooculofacioskeletal syndrome 3 10.6
1191 leukodystrophy, hypomyelinating, 12 10.6
1192 desanto-shinawi syndrome 10.6
1193 congenital disorder of glycosylation, type iin 10.6
1194 luscan-lumish syndrome 10.6
1195 lymphatic malformation 6 10.6
1196 hao-fountain syndrome 10.6
1197 mental retardation, autosomal recessive 52 10.6
1198 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 10.6
1199 nevus comedonicus 10.6
1200 spastic paraplegia 77, autosomal recessive 10.6
1201 growth retardation, impaired intellectual development, hypotonia, and hepatopathy 10.6
1202 sotos syndrome 3 10.6
1203 mental retardation, autosomal recessive 57 10.6
1204 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 10.6
1205 immunoskeletal dysplasia with neurodevelopmental abnormalities 10.6
1206 lopes-maciel-rodan syndrome 10.6
1207 neurodevelopmental disorder with involuntary movements 10.6
1208 intellectual developmental disorder with neuropsychiatric features 10.6
1209 galloway-mowat syndrome 3 10.6
1210 galloway-mowat syndrome 4 10.6
1211 galloway-mowat syndrome 5 10.6
1212 kleefstra syndrome 2 10.6
1213 neurodevelopmental disorder with severe motor impairment and absent language 10.6
1214 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 10.6
1215 coffin-siris syndrome 6 10.6
1216 glycosylphosphatidylinositol biosynthesis defect 16 10.6
1217 leukodystrophy, hypomyelinating, 14 10.6
1218 encephalopathy, acute, infection-induced 8 10.6
1219 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 10.6
1220 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 10.6
1221 cardiac, facial, and digital anomalies with developmental delay 10.6
1222 periventricular nodular heterotopia 8 10.6
1223 baker-gordon syndrome 10.6
1224 intellectual developmental disorder, autosomal recessive 67 10.6
1225 basal ganglia calcification, idiopathic, 7, autosomal recessive 10.6
1226 congenital disorder of glycosylation with defective fucosylation 2 10.6
1227 galloway-mowat syndrome 6 10.6
1228 galloway-mowat syndrome 7 10.6
1229 neurodevelopmental disorder and language delay with or without structural brain abnormalities 10.6
1230 myoclonus, familial, 2 10.6
1231 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 10.6
1232 combined oxidative phosphorylation deficiency 39 10.6
1233 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 10.6
1234 neurodevelopmental disorder with or without variable brain abnormalities 10.6
1235 long qt syndrome 8 10.6
1236 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 10.6
1237 intellectual developmental disorder, autosomal recessive 71 10.6
1238 neurodevelopmental disorder with cerebellar hypoplasia and spasticity 10.6
1239 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 10.6
1240 snijders blok-fisher syndrome 10.6
1241 neurooculocardiogenitourinary syndrome 10.6
1242 intellectual developmental disorder with short stature and behavioral abnormalities 10.6
1243 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 10.6
1244 liang-wang syndrome 10.6
1245 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 10.6
1246 spastic paraplegia 82, autosomal recessive 10.6
1247 long qt syndrome 16 10.6
1248 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 10.6
1249 beck-fahrner syndrome 10.6
1250 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 10.6
1251 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant 10.6
1252 basal ganglia calcification, idiopathic, 8, autosomal recessive 10.6
1253 epilepsy, early-onset, with or without developmental delay 10.6
1254 combined oxidative phosphorylation deficiency 44 10.6
1255 diabetes mellitus, permanent neonatal 4 10.6
1256 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 10.6
1257 lissencephaly 10 10.6
1258 chromosome 17q11.2 duplication syndrome, 1.4-mb 10.6
1259 leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 10.6
1260 hypoparathyroidism, familial isolated, 2 10.6
1261 congenital disorder of glycosylation, type iit 10.6
1262 sydenham chorea 10.6
1263 powassan encephalitis 10.6
1264 early congenital syphilis 10.6
1265 severe congenital neutropenia 10.6
1266 methylmalonic aciduria and homocystinuria type cble 10.6
1267 methylmalonic aciduria and homocystinuria type cblg 10.6
1268 adenylosuccinase lyase deficiency 10.6
1269 gaba aminotransferase deficiency 10.6
1270 balo concentric sclerosis 10.6
1271 parietal foramina 10.6
1272 cold-induced sweating syndrome 10.6
1273 chromosome 15q24 deletion syndrome 10.6
1274 chromosome 16p11.2 deletion syndrome 10.6
1275 primary hypomagnesemia 10.6
1276 hereditary sensory and autonomic neuropathy type 1 10.6
1277 csf1r-related brain malformation and osteopetrosis 10.6
1278 intestinal pseudo-obstruction 10.6
1279 haemophilus meningitis 10.6
1280 zika virus congenital syndrome 10.6
1281 autosomal dominant mental retardation 55 10.6
1282 x-linked chondrodysplasia punctata 2 10.6
1283 kleefstra syndrome 10.6
1284 spinocerebellar ataxia type 1 with axonal neuropathy 10.6
1285 col4a1-related familial vascular leukoencephalopathy 10.6
1286 mitochondrial complex iii deficiency 10.6
1287 large congenital melanocytic nevus 10.6
1288 progressive myoclonus epilepsy 7 10.6
1289 progressive myoclonus epilepsy 9 10.6
1290 progressive myoclonus epilepsy 8 10.6
1291 wolfram syndrome 10.6
1292 eastern equine encephalitis 10.6
1293 myoclonic cerebellar dyssynergia 10.6
1294 neuroschistosomiasis 10.6
1295 west nile fever 10.6
1296 brain glioblastoma multiforme 10.6
1297 cutis laxa 10.6
1298 aspiration pneumonitis 10.6
1299 gm1 gangliosidosis 10.6
1300 choroid plexus cancer 10.6
1301 erdheim-chester disease 10.6
1302 acute necrotizing encephalitis 10.6
1303 spinal cancer 10.6
1304 astroblastoma 10.6
1305 whipple disease 10.6
1306 congenital syphilis 10.6
1307 xp11.2 duplication 10.6
1308 17q12 recurrent deletion syndrome 10.6
1309 cdk13-related disorder 10.6
1310 clpb deficiency 10.6
1311 carbonic anhydrase va deficiency 10.6
1312 polr3-related leukodystrophy 10.6
1313 rab18 deficiency 10.6
1314 spastic paraplegia 4 10.6
1315 tango2-related metabolic encephalopathy and arrhythmias 10.6
1316 tubb4a-related leukodystrophy 10.6
1317 unc80 deficiency 10.6
1318 15q13.3 microduplication syndrome 10.6
1319 16p11.2 duplication 10.6
1320 16q24.3 microdeletion syndrome 10.6
1321 1q44 microdeletion syndrome 10.6
1322 48,xxyy syndrome 10.6
1323 8p23.1 duplication syndrome 10.6
1324 alopecia-contractures-dwarfism-intellectual disability syndrome 10.6
1325 alopecia-intellectual disability syndrome 10.6
1326 arachnodactyly - intellectual disability - dysmorphism 10.6
1327 autosomal dominant intellectual disability 49 10.6
1328 bain type of x-linked syndromic intellectual disability 10.6
1329 bilateral frontal polymicrogyria 10.6
1330 bilateral generalized polymicrogyria 10.6
1331 chromosome 10p duplication 10.6
1332 chromosome 17q deletion 10.6
1333 chromosome 2q24 microdeletion syndrome 10.6
1334 chromosome 8p23.1 deletion 10.6
1335 cortes lacassie syndrome 10.6
1336 diaphragmatic flutter 10.6
1337 distal chromosome 18q deletion syndrome 10.6
1338 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 10.6
1339 familiar or sporadic hemiplegic migraine 10.6
1340 hemophilic arthropathy 10.6
1341 hernández-aguirre negrete syndrome 10.6
1342 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 10.6
1343 internal carotid agenesis 10.6
1344 isodicentric chromosome 15 syndrome 10.6
1345 l-arginine:glycine amidinotransferase deficiency 10.6
1346 lipoic acid synthetase deficiency 10.6
1347 mal de debarquement syndrome 10.6
1348 mercury poisoning 10.6
1349 mitochondrial dna-associated leigh syndrome 10.6
1350 mollaret meningitis 10.6
1351 ophn1 syndrome 10.6
1352 paroxysmal exertion-induced dyskinesia 10.6
1353 pik3ca-related overgrowth spectrum 10.6
1354 pitt-hopkins-like syndrome 10.6
1355 primary melanoma of the central nervous system 10.6
1356 primary orthostatic tremor 10.6
1357 ring chromosome 17 10.6
1358 ring chromosome 6 10.6
1359 rosette-forming glioneuronal tumor 10.6
1360 setbp1 disorder 10.6
1361 sphingosine phosphate lyase insufficiency syndrome 10.6
1362 syngap1-related non-syndromic intellectual disability 10.6
1363 visual snow syndrome 10.6
1364 warman mulliken hayward syndrome 10.6
1365 west nile virus encephalitis 10.6
1366 x-linked cerebral adrenoleukodystrophy 10.6
1367 x-linked intellectual disability, najm type 10.6
1368 10q26 deletion syndrome 10.6
1369 16p12.2 microdeletion 10.6
1370 19p13.13 deletion syndrome 10.6
1371 9q22.3 microdeletion 10.6
1372 alg1-congenital disorder of glycosylation 10.6
1373 alg6-congenital disorder of glycosylation 10.6
1374 cln4 disease 10.6
1375 col4a1-related brain small-vessel disease 10.6
1376 huntington disease-like syndrome 10.6
1377 ngly1-congenital disorder of deglycosylation 10.6
1378 pacs1 syndrome 10.6
1379 ppp2r5d-related intellectual disability 10.6
1380 trnt1 deficiency 10.6
1381 acute necrotizing encephalopathy type 1 10.6
1382 corticosterone methyloxidase deficiency 10.6
1383 hereditary cerebral amyloid angiopathy 10.6
1384 lissencephaly with cerebellar hypoplasia 10.6
1385 nonsyndromic holoprosencephaly 10.6
1386 spastic paraplegia type 49 10.6
1387 aids - neurological complications 10.6
1388 brain and spinal tumors 10.6
1389 congenital vascular cavernous malformations 10.6
1390 de morsier's syndrome information 10.6
1391 epileptic hemiplegia 10.6
1392 familial hemangioma 10.6
1393 hemiplegia alterans 10.6
1394 immune-mediated encephalomyelitis 10.6
1395 lupus - neurological sequelae 10.6
1396 postinfectious encephalomyelitis 10.6
1397 ramsay hunt syndrome i 10.6
1398 vascular erectile tumor 10.6
1399 vasculitis syndromes of the central and peripheral nervous systems 10.6
1400 phakomatosis pigmentokeratotica 10.6
1401 ethylene glycol poisoning 10.6
1402 tremor 10.5
1403 migraine with or without aura 1 10.5
1404 amnestic disorder 10.5
1405 alcohol dependence 10.5
1406 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.5
1407 hypotonia 10.5
1408 stroke, ischemic 10.5
1409 headache 10.5
1410 glial tumor 10.5
1411 depression 10.5
1412 aphasia 10.4
1413 reflex epilepsy 10.4
1414 hyperglycemia 10.4
1415 cardiac arrest 10.4
1416 exanthem 10.4
1417 cerebrovascular disease 10.4
1418 attention deficit-hyperactivity disorder 10.4
1419 anxiety 10.4
1420 gastroenteritis 10.4
1421 meningioma, radiation-induced 10.4
1422 secretory meningioma 10.4
1423 lymphoplasmacyte-rich meningioma 10.4
1424 astrocytoma 10.4
1425 autism spectrum disorder 10.4
1426 dystonia 10.4
1427 bacterial meningitis 10.4
1428 multiple sclerosis 10.3
1429 hemiplegia 10.3
1430 mental depression 10.3
1431 subacute delirium 10.3
1432 tetanus 10.3
1433 ganglioglioma 10.3
1434 alzheimer disease 10.3
1435 mood disorder 10.3
1436 48,xyyy 10.3
1437 movement disease 10.3
1438 ischemia 10.3
1439 conversion disorder 10.3
1440 withdrawal disorder 10.3
1441 sleep disorder 10.3
1442 personality disorder 10.3
1443 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 10.3
1444 benign childhood occipital epilepsy, gastaut type 10.3
1445 major depressive disorder 10.3
1446 infancy electroclinical syndrome 10.3 KCNQ2 CDKL5
1447 metabolic acidosis 10.3
1448 aneurysm 10.3
1449 kidney disease 10.3
1450 down syndrome 10.2
1451 precocious puberty 10.2
1452 pertussis 10.2
1453 dementia 10.2
1454 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
1455 autosomal recessive disease 10.2
1456 hypothyroidism 10.2
1457 weber syndrome 10.2
1458 pulmonary edema 10.2
1459 learning disability 10.2
1460 spasticity 10.2
1461 branchiootic syndrome 1 10.2
1462 mumps 10.2
1463 bipolar disorder 10.2
1464 inherited metabolic disorder 10.2
1465 major affective disorder 8 10.2
1466 major affective disorder 9 10.2
1467 meningoencephalitis 10.2
1468 transient cerebral ischemia 10.2
1469 rubella 10.2
1470 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
1471 autonomic dysfunction 10.2
1472 temporal lobe epilepsy 10.2
1473 thrombophilia due to thrombin defect 10.2
1474 cyanosis, transient neonatal 10.2
1475 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
1476 respiratory failure 10.2
1477 avoidant personality disorder 10.2
1478 lactic acidosis 10.2
1479 herpes simplex 10.2
1480 cardiac arrhythmia 10.2
1481 alexithymia 10.2
1482 pain agnosia 10.2
1483 extratemporal epilepsy 10.2
1484 infantile epilepsy syndrome 10.2
1485 sleep apnea 10.2
1486 myoclonic epilepsy of infancy 10.2
1487 iron metabolism disease 10.2
1488 diarrhea 10.1
1489 dysembryoplastic neuroepithelial tumor 10.1
1490 acute kidney failure 10.1
1491 retrograde amnesia 10.1
1492 chickenpox 10.1
1493 cerebral artery occlusion 10.1
1494 asphyxia neonatorum 10.1
1495 atrial standstill 1 10.1
1496 carbonic anhydrase va deficiency, hyperammonemia due to 10.1
1497 thrombosis 10.1
1498 psychotic disorder 10.1
1499 diphtheria 10.1
1500 somatization disorder 10.1
1501 vascular disease 10.1
1502 encephalomalacia 10.1
1503 substance abuse 10.1
1504 cardiac conduction defect 10.1
1505 schizophrenia 10.1
1506 chorea, childhood-onset, with psychomotor retardation 10.1
1507 deficiency anemia 10.1
1508 atrioventricular block 10.1
1509 choreatic disease 10.1
1510 thrombocytopenia 10.1
1511 neonatal stroke 10.1
1512 specific language disorder 10.1
1513 porphyria, acute intermittent 10.1
1514 nasopharyngitis 10.1
1515 chromosomal triplication 10.1
1516 cytokine deficiency 10.1
1517 atrial fibrillation 10.1
1518 cortical blindness 10.1
1519 neuropathy 10.1
1520 pulmonary embolism 10.1
1521 autoimmune disease 10.1
1522 otitis media 10.1
1523 immune deficiency disease 10.1
1524 leukemia, acute lymphoblastic 10.1
1525 hyperphosphatemia 10.1
1526 allergic hypersensitivity disease 10.1
1527 hyperparathyroidism 10.1
1528 post-traumatic stress disorder 10.1
1529 panic disorder 10.1
1530 acute stress disorder 10.1
1531 broken heart syndrome 10.1
1532 ring chromosome 10.1
1533 immunoglobulin e concentration, serum 10.1
1534 ventricular fibrillation, paroxysmal familial, 1 10.1
1535 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
1536 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.1
1537 apraxia 10.1
1538 purpura 10.1
1539 neurofibromatosis 10.1
1540 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.0
1541 migraine with aura 10.0
1542 intracranial aneurysm 10.0
1543 hypogonadism 10.0
1544 hyperinsulinism 10.0
1545 myopathy 10.0
1546 hypokalemia 10.0
1547 peripheral nervous system disease 10.0
1548 cataract 10.0
1549 vasculitis 10.0
1550 alopecia 10.0
1551 fainting 10.0
1552 neonatal hypoxic and ischemic brain injury 10.0
1553 lipomatosis, multiple 10.0
1554 myocardial infarction 10.0
1555 pleomorphic lipoma 10.0
1556 aseptic meningitis 10.0
1557 tic disorder 10.0
1558 influenza 10.0
1559 nervous system disease 10.0
1560 tuberculous meningitis 10.0
1561 back pain 10.0
1562 chronic pain 10.0
1563 breath-holding spells 10.0
1564 basal ganglia calcification 10.0
1565 ptosis 10.0
1566 acute cystitis 10.0
1567 hepatic encephalopathy 10.0
1568 hypophosphatasia 10.0
1569 endogenous depression 10.0
1570 paraplegia 10.0
1571 end stage renal disease 10.0
1572 speech disorder 10.0
1573 chromosome 4p deletion 10.0
1574 gastroesophageal reflux 10.0
1575 graves disease 1 10.0
1576 hepatic coma 10.0
1577 quadriplegia 10.0
1578 hemangioma 10.0
1579 demyelinating disease 10.0
1580 adenoma 10.0
1581 diabetes mellitus 10.0
1582 autosomal dominant epilepsy with auditory features 10.0
1583 kcnq3-related disorders 10.0
1584 kcnt1-related epilepsy 10.0
1585 cerebral aneurysms 10.0
1586 hypertonia 10.0
1587 rapidly involuting congenital hemangioma 10.0
1588 low-grade astrocytoma 10.0
1589 cocaine intoxication 10.0
1590 hand skill, relative 10.0
1591 hypercholesterolemia, familial, 1 10.0
1592 hypertelorism 10.0
1593 obsessive-compulsive disorder 10.0
1594 3-methylglutaconic aciduria, type iii 10.0
1595 aspiration pneumonia 10.0
1596 alcohol-related neurodevelopmental disorder 10.0
1597 cryptococcal meningitis 10.0
1598 borderline personality disorder 10.0
1599 iron deficiency anemia 10.0
1600 severe pre-eclampsia 10.0
1601 schizoaffective disorder 10.0
1602 paresthesia 10.0
1603 pik3ca-related overgrowth syndrome 10.0
1604 vitamin b12 deficiency 10.0
1605 stuttering 10.0
1606 scoliosis 10.0
1607 hypogonadotropic hypogonadism 10.0
1608 dissociative disorder 10.0
1609 depersonalization disorder 10.0
1610 constipation 10.0
1611 central nervous system disease 10.0
1612 progressive multifocal leukoencephalopathy 10.0
1613 chronic kidney disease 10.0
1614 cocaine abuse 10.0
1615 pyridoxine deficiency anemia 10.0
1616 paroxysmal dyskinesia 10.0
1617 isolated focal cortical dysplasia type i 10.0
1618 human immunodeficiency virus type 1 9.9
1619 phenytoin toxicity 9.9
1620 myelomeningocele 9.9
1621 covid-19 9.9
1622 sensorineural hearing loss 9.9
1623 hypochondriasis 9.9
1624 periventricular leukomalacia 9.9
1625 impotence 9.9
1626 agnosia 9.9
1627 uremia 9.9
1628 cavernous hemangioma 9.9
1629 mitochondrial encephalomyopathy 9.9
1630 narcolepsy 9.9
1631 mitochondrial disorders 9.9
1632 oligoastrocytoma 9.9
1633 pyridoxine deficiency 9.9
1634 startle epilepsy 9.9
1635 acute liver failure 9.9
1636 strabismus 9.9
1637 hypophosphatasia, infantile 9.9
1638 graft-versus-host disease 9.9
1639 fetal alcohol syndrome 9.9
1640 leukodystrophy 9.9
1641 carotid stenosis 9.9
1642 generalized anxiety disorder 9.9
1643 autosomal dominant cerebellar ataxia 9.9
1644 papilledema 9.9
1645 neuritis 9.9
1646 somatoform disorder 9.9
1647 benign ependymoma 9.9
1648 hemolytic anemia 9.9
1649 acquired immunodeficiency syndrome 9.9
1650 neuroblastoma 9.9
1651 hyperthyroidism 9.9
1652 carotid artery occlusion 9.9
1653 myocarditis 9.9
1654 neuromyelitis optica 9.9
1655 mechanical strabismus 9.9
1656 hypereosinophilic syndrome 9.9
1657 dysphagia 9.9
1658 inflammatory myopathy with abundant macrophages 9.9
1659 avascular necrosis 9.9
1660 pneumococcal meningitis 9.9
1661 hemifacial spasm, familial 9.9
1662 parkinson disease, late-onset 9.9
1663 sarcoidosis 1 9.9
1664 macrocephaly/megalencephaly syndrome, autosomal recessive 9.9
1665 sudden infant death syndrome 9.9
1666 aging 9.9
1667 frontotemporal dementia 9.9
1668 asthma 9.9
1669 aplastic anemia 9.9
1670 diabetes mellitus, ketosis-prone 9.9
1671 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.9
1672 hyperprolactinemia 9.9
1673 pulmonary hypertension 9.9
1674 sexual disorder 9.9
1675 brain meningioma 9.9
1676 bone disease 9.9
1677 benign teratoma 9.9
1678 asymptomatic neurosyphilis 9.9
1679 brucellosis 9.9
1680 heart disease 9.9
1681 polycystic ovary syndrome 9.9
1682 nephrotic syndrome 9.9
1683 neutropenia 9.9
1684 cholestasis 9.9
1685 viral hepatitis 9.9
1686 cystic teratoma 9.9
1687 acute pancreatitis 9.9
1688 pleural empyema 9.9
1689 liver disease 9.9
1690 pleomorphic xanthoastrocytoma 9.9
1691 mature teratoma 9.9
1692 bronchitis 9.9
1693 severe combined immunodeficiency 9.9
1694 amyloidosis 9.9
1695 haemophilus influenzae 9.9
1696 neurosyphilis 9.9
1697 dysautonomia 9.9
1698 hemifacial spasm 9.9
1699 paroxysmal choreoathetosis 9.9
1700 psychogenic movement 9.9
1701 spinal cord injury 9.9
1702 argyria 9.9
1703 overgrowth syndrome 9.9
1704 progressive familial heart block, type ia 9.8
1705 tetralogy of fallot 9.8
1706 triiodothyronine receptor auxiliary protein 9.8
1707 abnormal hair, joint laxity, and developmental delay 9.8
1708 body mass index quantitative trait locus 1 9.8
1709 anorexia nervosa 9.8
1710 pervasive developmental disorder 9.8
1711 myoglobinuria 9.8
1712 bacterial infectious disease 9.8
1713 tonsillitis 9.8
1714 osteomalacia 9.8
1715 thrombotic thrombocytopenic purpura 9.8
1716 optic neuritis 9.8
1717 hemosiderosis 9.8
1718 guillain-barre syndrome 9.8
1719 polyneuropathy 9.8
1720 facial paralysis 9.8
1721 amenorrhea 9.8
1722 glomerulonephritis 9.8
1723 sagittal sinus thrombosis 9.8
1724 toxic encephalopathy 9.8
1725 systemic scleroderma 9.8
1726 poliomyelitis 9.8
1727 congestive heart failure 9.8
1728 fibrillary astrocytoma 9.8
1729 peritonitis 9.8
1730 lung disease 9.8
1731 exophthalmos 9.8
1732 dipsogenic diabetes insipidus 9.8
1733 periodontal ehlers-danlos syndrome 9.8
1734 posttransplant acute limbic encephalitis 9.8
1735 congenital amyoplasia 9.8
1736 yemenite deaf-blind hypopigmentation syndrome 9.8
1737 myoclonus epilepsy 9.8
1738 myoclonus 9.8
1739 pfeiffer syndrome 9.8
1740 major affective disorder 1 9.8
1741 hypertriglyceridemia, familial 9.8
1742 metaphyseal chondrodysplasia, schmid type 9.8
1743 prader-willi syndrome 9.8
1744 pulmonary hypertension, primary, 1 9.8
1745 schistosoma mansoni infection, susceptibility/ 9.8
1746 neural tube defects 9.8
1747 pituitary hormone deficiency, combined, 2 9.8
1748 pulmonary disease, chronic obstructive 9.8
1749 patent ductus arteriosus 1 9.8
1750 severe cutaneous adverse reaction 9.8
1751 erythema multiforme 9.8
1752 congenital hypothyroidism 9.8
1753 inguinal hernia 9.8
1754 zika fever 9.8
1755 neuroretinitis 9.8
1756 chronic meningitis 9.8
1757 malignant hypertension 9.8
1758 primary hyperparathyroidism 9.8
1759 dysthymic disorder 9.8
1760 paranoid schizophrenia 9.8
1761 pancytopenia 9.8
1762 pseudobulbar palsy 9.8
1763 transient global amnesia 9.8
1764 hyperinsulinemic hypoglycemia 9.8
1765 schistosomiasis 9.8
1766 toxic shock syndrome 9.8
1767 calcinosis 9.8
1768 wernicke encephalopathy 9.8
1769 thrombophilia 9.8
1770 sensory peripheral neuropathy 9.8
1771 bruxism 9.8
1772 bronchiolitis 9.8
1773 malignant glioma 9.8
1774 myelitis 9.8
1775 retinitis 9.8
1776 thrombophlebitis 9.8
1777 mutism 9.8
1778 pancreatitis 9.8
1779 liver cirrhosis 9.8
1780 anterograde amnesia 9.8
1781 pneumonia 9.8
1782 nephrolithiasis 9.8
1783 corpus callosum lipoma 9.8
1784 central pontine myelinolysis 9.8
1785 juvenile pilocytic astrocytoma 9.8
1786 b-cell lymphoma 9.8
1787 peroxisomal disease 9.8
1788 drug dependence 9.8
1789 prrt2-associated paroxysmal movement disorders 9.8
1790 sickle cell disease 9.8
1791 tbc1d24-related disorders 9.8
1792 granulocytopenia 9.8
1793 pseudobulbar affect 9.8
1794 angiomatosis 9.8
1795 hypersomnia 9.8
1796 paraneoplastic limbic encephalitis 9.8
1797 erythema multiforme major 9.8
1798 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 9.8
1799 rare tumor 9.8
1800 anisocoria 9.8
1801 cleft palate, isolated 9.8
1802 cornelia de lange syndrome 1 9.8
1803 medulloblastoma 9.8
1804 nevus, epidermal 9.8
1805 osteoporosis 9.8
1806 nephrolithiasis, calcium oxalate 9.8
1807 trigeminal neuralgia 9.8
1808 abetalipoproteinemia 9.8
1809 lipoid congenital adrenal hyperplasia 9.8
1810 takayasu arteritis 9.8
1811 lung cancer 9.8
1812 leprosy 3 9.8
1813 alopecia, congenital 9.8
1814 muscular dystrophy, duchenne type 9.8
1815 supranuclear palsy, progressive, 1 9.8
1816 leukemia, acute myeloid 9.8
1817 polydactyly 9.8
1818 sickle cell anemia 9.8
1819 progressive familial heart block, type ib 9.8
1820 diamond-blackfan anemia 2 9.8
1821 bone mineral density quantitative trait locus 8 9.8
1822 kawasaki disease 9.8
1823 bone mineral density quantitative trait locus 15 9.8
1824 leukemia, acute lymphoblastic 3 9.8
1825 helix syndrome 9.8
1826 alcohol-related birth defect 9.8
1827 fetal alcohol spectrum disorder 9.8
1828 secondary progressive multiple sclerosis 9.8
1829 syndromic intellectual disability 9.8
1830 munchausen by proxy 9.8
1831 aortic dissection 9.8
1832 osteomyelitis 9.8
1833 thalassemia 9.8
1834 viral meningitis 9.8
1835 spastic diplegia 9.8
1836 spastic quadriplegia 9.8
1837 disseminated intravascular coagulation 9.8
1838 subdural empyema 9.8
1839 onchocerciasis 9.8
1840 lyme disease 9.8
1841 graves' disease 9.8
1842 secondary hyperparathyroidism 9.8
1843 telangiectasis 9.8
1844 right bundle branch block 9.8
1845 patent foramen ovale 9.8
1846 sick sinus syndrome 9.8
1847 obstructive hydrocephalus 9.8
1848 methylmalonic acidemia 9.8
1849 urticaria 9.8
1850 ventricular septal defect 9.8
1851 heart septal defect 9.8
1852 ichthyosis 9.8
1853 benign shuddering attacks 9.8
1854 facial hemiatrophy 9.8
1855 factitious disorder 9.8
1856 optic nerve disease 9.8
1857 dysostosis 9.8
1858 hepatitis 9.8
1859 arteriosclerosis 9.8
1860 morphine dependence 9.8
1861 severe acute respiratory syndrome 9.8
1862 neurilemmoma 9.8
1863 teratoma 9.8
1864 fibromyalgia 9.8
1865 thyroiditis 9.8
1866 muscular atrophy 9.8
1867 parasitic helminthiasis infectious disease 9.8
1868 hypoplastic left heart syndrome 9.8
1869 albinism 9.8
1870 creatine deficiency syndromes 9.8
1871 isolated methylmalonic acidemia 9.8
1872 cerebellar degeneration 9.8
1873 hansen's disease 9.8
1874 sandifer syndrome 9.8
1875 slipped capital femoral epiphysis 9.8
1876 spastic paraparesis 9.8
1877 stevens-johnson syndrome/toxic epidermal necrolysis 9.8
1878 familial long qt syndrome 9.8
1879 paroxysmal dystonia 9.8
1880 pseudohypoparathyroidism, type ia 9.7
1881 amyotrophic lateral sclerosis 1 9.7
1882 apnea, obstructive sleep 9.7
1883 colorectal cancer 9.7
1884 coloboma of macula 9.7
1885 external auditory canal, bilateral atresia of, with congenital vertical talus 9.7
1886 hashimoto thyroiditis 9.7
1887 diaphragmatic hernia, congenital 9.7
1888 keratitis, hereditary 9.7
1889 episodic ataxia, type 1 9.7
1890 pheochromocytoma 9.7
1891 polykaryocytosis inducer 9.7
1892 syringomyelia, noncommunicating isolated 9.7
1893 torticollis 9.7
1894 varicose veins 9.7
1895 velocardiofacial syndrome 9.7
1896 neutropenia, severe congenital, 1, autosomal dominant 9.7
1897 ataxia-telangiectasia 9.7
1898 cryptorchidism, unilateral or bilateral 9.7
1899 cystic fibrosis 9.7
1900 enterocolitis 9.7
1901 lymphoma, hodgkin, classic 9.7
1902 hydrocephalus due to congenital stenosis of aqueduct of sylvius 9.7
1903 myeloma, multiple 9.7
1904 myxedema 9.7
1905 proteasome-associated autoinflammatory syndrome 1 9.7
1906 neuraminidase deficiency 9.7
1907 retinitis pigmentosa 9.7
1908 thymoma, familial 9.7
1909 wilson disease 9.7
1910 migraine, familial hemiplegic, 2 9.7
1911 orthostatic intolerance 9.7
1912 lymphoma, non-hodgkin, familial 9.7
1913 coronary heart disease 1 9.7
1914 hearing loss, noise-induced 9.7
1915 muscular dystrophy, congenital, lmna-related 9.7
1916 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.7
1917 striatal degeneration, autosomal dominant 2 9.7
1918 speech and communication disorders 9.7
1919 brachydactyly 9.7
1920 inflammatory bowel disease 9.7
1921 taeniasis 9.7
1922 distal arthrogryposis 9.7
1923 chorioamnionitis 9.7
1924 adrenal gland pheochromocytoma 9.7
1925 auditory agnosia 9.7
1926 organic acidemia 9.7
1927 catecholaminergic polymorphic ventricular tachycardia 9.7
1928 dextro-looped transposition of the great arteries 9.7
1929 protein-losing enteropathy 9.7
1930 hypospadias 9.7
1931 rabies 9.7
1932 epidural abscess 9.7
1933 autonomic neuropathy 9.7
1934 patau syndrome 9.7
1935 von willebrand's disease 9.7
1936 hepatitis a 9.7
1937 hemolytic-uremic syndrome 9.7
1938 acute leukemia 9.7
1939 migraine without aura 9.7
1940 dilated cardiomyopathy 9.7
1941 renal osteodystrophy 9.7
1942 uveitis 9.7
1943 alexia 9.7
1944 basilar artery occlusion 9.7
1945 beriberi 9.7
1946 central neurocytoma 9.7
1947 echinococcosis 9.7
1948 cholera 9.7
1949 cystitis 9.7
1950 atrial heart septal defect 9.7
1951 hepatitis c 9.7
1952 enthesopathy 9.7
1953 hyperostosis 9.7
1954 thrombocytosis 9.7
1955 pharyngitis 9.7
1956 lateral sclerosis 9.7
1957 relapsing-remitting multiple sclerosis 9.7
1958 hereditary spastic paraplegia 9.7
1959 dermatitis 9.7
1960 bilirubin metabolic disorder 9.7
1961 glycogen storage disease 9.7
1962 melancholia 9.7
1963 pulmonary tuberculosis 9.7
1964 gingivitis 9.7
1965 lipid metabolism disorder 9.7
1966 lysosomal storage disease 9.7
1967 syringomyelia 9.7
1968 thymoma 9.7
1969 inappropriate adh syndrome 9.7
1970 histiocytosis 9.7
1971 cerebritis 9.7
1972 middle cerebral artery infarction 9.7
1973 empty sella syndrome 9.7
1974 pituitary adenoma 9.7
1975 craniopharyngioma 9.7
1976 heart valve disease 9.7
1977 syphilis 9.7
1978 hypertrichosis 9.7
1979 intracranial embolism 9.7
1980 dyslexia 9.7
1981 rhinitis 9.7
1982 dysgraphia 9.7
1983 holoprosencephaly 9.7
1984 intracranial hypotension 9.7
1985 adjustment disorder 9.7
1986 mixed glioma 9.7
1987 subependymal giant cell astrocytoma 9.7
1988 borna disease 9.7
1989 agoraphobia 9.7
1990 prion disease 9.7
1991 connective tissue disease 9.7
1992 basal ganglia disease 9.7
1993 mitochondrial myopathy 9.7
1994 mitochondrial metabolism disease 9.7
1995 parathyroid adenoma 9.7
1996 placenta disease 9.7
1997 osteochondrosis 9.7
1998 polycythemia 9.7
1999 herpes zoster 9.7
2000 ulcerative colitis 9.7
2001 perinatal necrotizing enterocolitis 9.7
2002 vascular dementia 9.7
2003 waardenburg's syndrome 9.7
2004 cleft lip 9.7
2005 fatty liver disease 9.7
2006 bronchiectasis 9.7
2007 neurofibroma 9.7
2008 stomatitis 9.7
2009 placental abruption 9.7
2010 acute mountain sickness 9.7
2011 aids dementia complex 9.7
2012 chiari malformation 9.7
2013 congenital zika syndrome 9.7
2014 drug reaction with eosinophilia and systemic symptoms 9.7
2015 dwarfism 9.7
2016 germ cells tumors 9.7
2017 linear scleroderma 9.7
2018 lymphangiectasis 9.7
2019 primary angiitis of the central nervous system 9.7
2020 pure autonomic failure 9.7
2021 rasmussen johnsen thomsen syndrome 9.7
2022 secondary adrenal insufficiency 9.7
2023 transverse myelitis 9.7
2024 central precocious puberty 9.7
2025 cerebral beriberi 9.7
2026 cytomegalovirus infection 9.7
2027 pituitary tumors 9.7
2028 non-paraneoplastic limbic encephalitis 9.7
2029 hyperphosphatasia-intellectual disability syndrome 9.7
2030 specific learning disability 9.7
2031 cerebral sinovenous thrombosis 9.7
2032 rasmussen subacute encephalitis 9.7
2033 neonatal lupus erythematosus 9.7
2034 non-specific syndromic intellectual disability 9.7
2035 childhood-onset epilepsy syndrome 9.7
2036 infectious encephalitis 9.7
2037 cardiogenic shock 9.7
2038 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 9.7
2039 kearns-sayre syndrome 9.7
2040 kluver-bucy syndrome 9.7
2041 glioblastoma multiforme 9.7
2042 intracranial hypertension 9.7
2043 encephalitis 9.7
2044 pathologic nystagmus 9.7
2045 hypoglycemia 9.7
2046 post-traumatic epilepsy 9.7
2047 neurofibromatosis, type ii 9.6
2048 alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality 9.6
2049 atherosclerosis susceptibility 9.6
2050 bladder cancer 9.6
2051 exostoses, multiple, type ii 9.6
2052 zimmermann-laband syndrome 1 9.6
2053 fibrosis of extraocular muscles, congenital, 1 9.6
2054 hair whorl 9.6
2055 migraine, familial hemiplegic, 1 9.6
2056 hernia, hiatus 9.6
2057 hypertension, essential 9.6
2058 ige responsiveness, atopic 9.6
2059 motion sickness 9.6
2060 neurofibromatosis, type i 9.6
2061 optic nerve hypoplasia, bilateral 9.6
2062 teratoma, ovarian 9.6
2063 ovarian cancer 9.6
2064 prostate cancer 9.6
2065 retinal detachment 9.6
2066 retinoblastoma 9.6
2067 scleroderma, familial progressive 9.6
2068 small cell cancer of the lung 9.6
2069 spinal arachnoiditis 9.6
2070 vitiligo-associated multiple autoimmune disease susceptibility 6 9.6
2071 volvulus of midgut 9.6
2072 alopecia-epilepsy-oligophrenia syndrome of moynahan 9.6
2073 central hypoventilation syndrome, congenital 9.6
2074 mitochondrial complex iv deficiency 9.6
2075 galactosemia i 9.6
2076 glycogen storage disease v 9.6
2077 hypogonadism, male 9.6
2078 familial mediterranean fever 9.6
2079 myasthenia gravis 9.6
2080 osteogenic sarcoma 9.6
2081 gitelman syndrome 9.6
2082 vitamin d hydroxylation-deficient rickets, type 1a 9.6
2083 pulmonic stenosis 9.6
2084 paine syndrome 9.6
2085 androgen insensitivity, partial 9.6
2086 dysphasia, familial developmental 9.6
2087 brachycephaly, deafness, cataract, microstomia, and mental retardation 9.6
2088 wilms tumor 5 9.6
2089 xanthomatosis 9.6
2090 homocysteinemia 9.6
2091 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 9.6
2092 vitiligo-associated multiple autoimmune disease susceptibility 1 9.6
2093 gastrointestinal stromal tumor 9.6
2094 migraine, familial hemiplegic, 3 9.6
2095 hyperinsulinemic hypoglycemia, familial, 5 9.6
2096 west nile virus 9.6
2097 hamamy syndrome 9.6
2098 muscle hypertrophy 9.6
2099 glutathione peroxidase deficiency 9.6
2100 myelodysplastic syndrome 9.6
2101 dengue virus 9.6
2102 coffin-siris syndrome 2 9.6
2103 leptin deficiency or dysfunction 9.6
2104 ataxia-oculomotor apraxia 4 9.6
2105 cleft palate, psychomotor retardation, and distinctive facial features 9.6
2106 peripheral vascular disease 9.6
2107 acute diarrhea 9.6
2108 restless legs syndrome 9.6
2109 variola major 9.6
2110 spastic cerebral palsy 9.6
2111 serine deficiency 9.6
2112 non-syndromic x-linked intellectual disability 9.6
2113 primary progressive multiple sclerosis 9.6
2114 second-degree atrioventricular block 9.6
2115 hemidystonia 9.6
2116 hereditary ataxia 9.6
2117 spastic ataxia 9.6
2118 lymphoma 9.6
2119 amusia 9.6
2120 visual agnosia 9.6
2121 specific language impairment 9.6
2122 paroxysmal nocturnal hemoglobinuria 9.6
2123 hennekam syndrome 9.6
2124 drug allergy 9.6
2125 isolated growth hormone deficiency 9.6
2126 primary microcephaly 9.6
2127 post-cardiac arrest syndrome 9.6
2128 fibrous dysplasia 9.6
2129 childhood acute lymphocytic leukemia 9.6
2130 middle east respiratory syndrome 9.6
2131 urolithiasis 9.6
2132 intracranial abscess 9.6
2133 exhibitionism 9.6
2134 ehrlichiosis 9.6
2135 endocarditis 9.6
2136 siderosis 9.6
2137 short bowel syndrome 9.6
2138 microphthalmia 9.6
2139 filariasis 9.6
2140 impulse control disorder 9.6
2141 pyelonephritis 9.6
2142 hypertrophic cardiomyopathy 9.6
2143 chagas disease 9.6
2144 arachnoiditis 9.6
2145 dengue disease 9.6
2146 spinal muscular atrophy 9.6
2147 dyscalculia 9.6
2148 nephrocalcinosis 9.6
2149 keratoconjunctivitis sicca 9.6
2150 conduct disorder 9.6
2151 vertebrobasilar insufficiency 9.6
2152 gout 9.6
2153 biliary atresia 9.6
2154 squamous cell papilloma 9.6
2155 acute poststreptococcal glomerulonephritis 9.6
2156 renal tubular acidosis 9.6
2157 cholinergic urticaria 9.6
2158 disease of mental health 9.6
2159 normal pressure hydrocephalus 9.6
2160 communicating hydrocephalus 9.6
2161