DDCH
MCID: DFN270
MIFTS: 48

Deafness, Dystonia, and Cerebral Hypomyelination (DDCH)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Dystonia, and Cerebral Hypomyelination

MalaCards integrated aliases for Deafness, Dystonia, and Cerebral Hypomyelination:

Name: Deafness, Dystonia, and Cerebral Hypomyelination 56 52 73 36 71
Ddch 56 52 73
Zellweger-Like Contiguous Gene Deletion Syndrome 52 58
Contiguous Abcd1 Dxs1357e Deletion Syndrome 52 58
Contiguous Abcd1/dxs1375e Deletion Syndrome 52 29
Cadds 52 58
Severe Motor and Intellectual Disabilities-Sensorineural Hearing Loss-Dystonia Syndrome 58
Severe Motor and Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome 58
Deafness, Dystonia, Cerebral Hypomyelination 39
Contiguous Abcd1-Dxs1375e Deletion Syndrome 71
Dystonia 43

Characteristics:

Orphanet epidemiological data:

58
cadds
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Miscellaneous:
early death may occur

Inheritance:
x-linked recessive


HPO:

31
deafness, dystonia, and cerebral hypomyelination:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare hepatic diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Deafness, Dystonia, and Cerebral Hypomyelination

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 369942 Definition CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia , severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts ), sensorineural deafness, seizures , and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly). Visit the Orphanet disease page for more resources.

MalaCards based summary : Deafness, Dystonia, and Cerebral Hypomyelination, also known as ddch, is related to zellweger syndrome and adrenoleukodystrophy, and has symptoms including abnormal pyramidal signs An important gene associated with Deafness, Dystonia, and Cerebral Hypomyelination is BCAP31 (B Cell Receptor Associated Protein 31), and among its related pathways/superpathways is Protein processing in endoplasmic reticulum. The drugs Risperidone and Olanzapine have been mentioned in the context of this disorder. Affiliated tissues include brain, subthalamic nucleus and globus pallidus, and related phenotypes are hearing impairment and abnormal facial shape

OMIM : 56 Deafness, dystonia, and cerebral hypomyelination is an X-linked recessive mental retardation syndrome characterized by almost no psychomotor development, dysmorphic facial features, sensorineural deafness, dystonia, pyramidal signs, and hypomyelination on brain imaging (summary by Cacciagli et al., 2013). (300475)

KEGG : 36 Deafness, dystonia, and cerebral hypomyelination (DDCH) is a severe X-linked syndrome, characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, and white-matter changes. Mutations in BCAP31, that encodes BAP31, cause this disease. BAP31 is a chaperone protein involved in several pathways, including ER associated degradation, export of ER proteins to the Golgi apparatus, and programmed cell death.

UniProtKB/Swiss-Prot : 73 Deafness, dystonia, and cerebral hypomyelination: An X-linked recessive mental retardation syndrome characterized by almost no psychomotor development, dysmorphic facial features, sensorineural deafness, dystonia, pyramidal signs, and hypomyelination on brain imaging.

Related Diseases for Deafness, Dystonia, and Cerebral Hypomyelination

Diseases related to Deafness, Dystonia, and Cerebral Hypomyelination via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1074, show less)
# Related Disease Score Top Affiliating Genes
1 zellweger syndrome 29.5 BCAP31 ABCD1
2 adrenoleukodystrophy 28.5 BCAP31 ABCD1
3 dystonia 1, torsion, autosomal dominant 12.9
4 dystonia 3, torsion, x-linked 12.9
5 dystonia, dopa-responsive 12.9
6 dystonia 11, myoclonic 12.9
7 dystonia 12 12.9
8 dystonia 16 12.8
9 dystonia, focal, task-specific 12.8
10 dystonia 6, torsion 12.7
11 cervical dystonia 12.7
12 dystonia 2, torsion, autosomal recessive 12.7
13 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 12.7
14 dystonia 24 12.7
15 dystonia 25 12.7
16 dystonia 23 12.7
17 dystonia 4, torsion, autosomal dominant 12.7
18 leber optic atrophy and dystonia 12.7
19 parkinsonism-dystonia, infantile, 1 12.7
20 dystonia 27 12.6
21 dystonia, juvenile-onset 12.6
22 oromandibular dystonia 12.6
23 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 12.6
24 dystonia 13, torsion, autosomal dominant 12.6
25 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 12.6
26 focal dystonia 12.6
27 dystonia 9 12.6
28 dystonia 21 12.6
29 hypermanganesemia with dystonia 1 12.6
30 hypermanganesemia with dystonia 12.6
31 leukoencephalopathy with dystonia and motor neuropathy 12.6
32 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 12.5
33 hypermanganesemia with dystonia 2 12.5
34 dystonia 26, myoclonic 12.5
35 torsion dystonia 2 12.5
36 early-onset generalized limb-onset dystonia 12.5
37 dystonia 28, childhood-onset 12.5
38 dystonia 7, torsion 12.5
39 torsion dystonia with onset in infancy 12.5
40 leukodystrophy and acquired microcephaly with or without dystonia 12.5
41 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 12.5
42 spasmodic dystonia 12.4
43 focal hand dystonia 12.4
44 segmental dystonia 12.4
45 cranio-facial dystonia 12.4
46 mohr-tranebjaerg syndrome 12.4
47 torsion dystonia 4 12.4
48 dystonia 15, myoclonic 12.4
49 segawa syndrome, autosomal recessive 12.4
50 multifocal dystonia 12.4
51 torsion dystonia 17 12.4
52 parkinsonism-dystonia, infantile, 2 12.3
53 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum 12.3
54 parkinson disease 14, autosomal recessive 12.3
55 lymphatic malformation 5 12.3
56 isolated dystonia 12.3
57 dystonia 17, torsion, autosomal recessive 12.3
58 combined dystonia 12.3
59 episodic kinesigenic dyskinesia 1 12.3
60 dyt1 early-onset isolated dystonia 12.3
61 glut1 deficiency syndrome 2 12.3
62 hereditary dystonia 12.2
63 generalized isolated dystonia 12.2
64 dyt-thap1 12.2
65 paroxysmal dystonia 12.2
66 sgce myoclonus-dystonia 12.2
67 paroxysmal nonkinesigenic dyskinesia 1 12.2
68 kmt2b-related dystonia 12.2
69 dystonia with cerebellar atrophy 12.2
70 persistent combined dystonia 12.1
71 dystonia-aphonia syndrome 12.1
72 dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease 12.1
73 rare dystonia 12.1
74 dystonia with ringbinden 12.1
75 mitochondrial dna-related dystonia 12.1
76 spastic paraplegia 35, autosomal recessive 12.1
77 partington x-linked mental retardation syndrome 12.1
78 paroxysmal nonkinesigenic dyskinesia 2 12.0
79 rare disorder with dystonia and other neurologic or systemic manifestation 12.0
80 cyanide-induced parkinsonism-dystonia 12.0
81 rare genetic dystonia 12.0
82 episodic kinesigenic dyskinesia 2 12.0
83 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 12.0
84 paroxysmal exertion-induced dyskinesia 11.9
85 spasmodic dysphonia 11.9
86 psychogenic movement 11.9
87 siddiqi syndrome 11.8
88 blepharospasm 11.8
89 diencephalic-mesencephalic junction dysplasia syndrome 2 11.7
90 blepharospasm, benign essential 11.7
91 tremor 11.6
92 dyt-gnal 11.6
93 neurodegeneration with brain iron accumulation 11.6
94 basal ganglia calcification, idiopathic, 1 11.6
95 movement disease 11.5
96 neurodegeneration with brain iron accumulation 1 11.5
97 machado-joseph disease 11.5
98 choreoacanthocytosis 11.5
99 neurodegeneration with brain iron accumulation 3 11.5
100 striatonigral degeneration, infantile 11.5
101 glucose transporter type 1 deficiency syndrome 11.5
102 sandifer syndrome 11.5
103 familial paroxysmal nonkinesigenic dyskinesia 11.5
104 epileptic encephalopathy, early infantile, 16 11.5
105 mecr-related neurologic disorder 11.5
106 thiamine metabolism dysfunction syndrome 2 11.4
107 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 11.4
108 tardive dyskinesia 11.4
109 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.4
110 hyperphenylalaninemia, bh4-deficient, a 11.4
111 biotin-thiamine-responsive basal ganglia disease 11.4
112 aromatic l-amino acid decarboxylase deficiency 11.4
113 alternating hemiplegia of childhood 11.4
114 leigh syndrome 11.4
115 woodhouse-sakati syndrome 11.4
116 spinocerebellar ataxia 1 11.4
117 gm1-gangliosidosis, type iii 11.4
118 spinocerebellar ataxia 17 11.4
119 adcy5-related dyskinesia 11.4
120 spinocerebellar ataxia 6 11.4
121 convulsions, familial infantile, with paroxysmal choreoathetosis 11.4
122 aicardi-goutieres syndrome 11.4
123 pyruvate dehydrogenase e2 deficiency 11.3
124 mcleod syndrome 11.3
125 neurodegeneration with brain iron accumulation 4 11.3
126 neurodevelopmental disorder with impaired speech and hyperkinetic movements 11.3
127 slc39a14 deficiency 11.3
128 hemidystonia 11.3
129 huntington disease 11.3
130 corticobasal degeneration 11.3
131 neurodegeneration with brain iron accumulation 5 11.3
132 wilson disease 11.3
133 gm1 gangliosidosis 11.3
134 oculogyric crisis 11.2
135 chorea, benign hereditary 11.2
136 hyperphenylalaninemia, bh4-deficient, b 11.2
137 spinocerebellar ataxia 2 11.2
138 mitochondrial membrane protein-associated neurodegeneration 11.2
139 glutaric acidemia i 11.2
140 parkinson disease 2, autosomal recessive juvenile 11.2
141 spinocerebellar ataxia 14 11.2
142 kufor-rakeb syndrome 11.2
143 lesch-nyhan syndrome 11.2
144 aceruloplasminemia 11.2
145 hyperphenylalaninemia, mild, non-bh4-deficient 11.2
146 gm1-gangliosidosis, type i 11.2
147 lipoid proteinosis of urbach and wiethe 11.2
148 mitochondrial complex i deficiency, nuclear type 1 11.2
149 myoclonic epilepsy of unverricht and lundborg 11.2
150 succinic semialdehyde dehydrogenase deficiency 11.2
151 pelizaeus-merzbacher disease 11.2
152 neuronal intranuclear inclusion disease 11.2
153 mitochondrial dna depletion syndrome 5 11.2
154 pontocerebellar hypoplasia, type 2e 11.2
155 coenzyme q10 deficiency disease 11.2
156 anismus 11.2
157 baraitser-winter syndrome 11.2
158 pontocerebellar hypoplasia 11.2
159 klippel-feil syndrome 11.2
160 kernicterus 11.2
161 tubb4a-related leukodystrophy 11.2
162 leukodystrophy, hypomyelinating, 6 11.2
163 3-methylglutaconic aciduria, type i 11.1
164 glut1 deficiency syndrome 1 11.1
165 thiamine metabolism dysfunction syndrome 5 11.1
166 neurodegeneration with brain iron accumulation 6 11.1
167 multiple mitochondrial dysfunctions syndrome 6 11.1
168 diencephalic-mesencephalic junction dysplasia syndrome 1 11.0
169 niemann-pick disease, type c1 11.0
170 sulfite oxidase deficiency, isolated 11.0
171 megalencephalic leukoencephalopathy with subcortical cysts 1 11.0
172 cerebroretinal microangiopathy with calcifications and cysts 1 11.0
173 mental retardation, autosomal dominant 6, with or without seizures 11.0
174 combined malonic and methylmalonic aciduria 11.0
175 spastic ataxia 5, autosomal recessive 11.0
176 mitochondrial complex iii deficiency, nuclear type 2 11.0
177 muscular dystrophy, limb-girdle, autosomal recessive 18 11.0
178 triosephosphate isomerase deficiency 11.0
179 parkinson disease 20, early-onset 11.0
180 basal ganglia calcification, idiopathic, 6 11.0
181 cerebroretinal microangiopathy with calcifications and cysts 2 11.0
182 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 11.0
183 developmental delay and seizures with or without movement abnormalities 11.0
184 leukodystrophy, hypomyelinating, 15 11.0
185 leukodystrophy, hypomyelinating, 18 11.0
186 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 11.0
187 brain dopamine-serotonin vesicular transport disease 11.0
188 karak syndrome 11.0
189 torticollis 10.9
190 spastic ataxia 1, autosomal dominant 10.9
191 blepharonasofacial malformation syndrome 10.9
192 spinocerebellar ataxia 29 10.9
193 cutis laxa, autosomal recessive, type iiia 10.9
194 cutis laxa, autosomal recessive, type iia 10.9
195 methemoglobinemia due to deficiency of methemoglobin reductase 10.9
196 mitochondrial complex ii deficiency 10.9
197 mitochondrial dna depletion syndrome 6 10.9
198 hyperphenylalaninemia, bh4-deficient, d 10.9
199 epilepsy, pyridoxine-dependent 10.9
200 paroxysmal nocturnal hemoglobinuria 1 10.9
201 epilepsy, nocturnal frontal lobe, 1 10.9
202 frontotemporal dementia, chromosome 3-linked 10.9
203 spinocerebellar ataxia 11 10.9
204 propionic acidemia 10.9
205 spinocerebellar ataxia, autosomal recessive 4 10.9
206 niemann-pick disease, type c2 10.9
207 leukodystrophy, hypomyelinating, 2 10.9
208 neurodegeneration with brain iron accumulation 2b 10.9
209 aicardi-goutieres syndrome 3 10.9
210 leukoencephalopathy, cystic, without megalencephaly 10.9
211 nescav syndrome 10.9
212 epileptic encephalopathy, early infantile, 13 10.9
213 leukoencephalopathy, brain calcifications, and cysts 10.9
214 combined oxidative phosphorylation deficiency 12 10.9
215 combined oxidative phosphorylation deficiency 13 10.9
216 basal ganglia calcification, idiopathic, 4 10.9
217 basal ganglia calcification, idiopathic, 5 10.9
218 microphthalmia, syndromic 12 10.9
219 epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta 10.9
220 epileptic encephalopathy, early infantile, 27 10.9
221 ataxia-oculomotor apraxia 4 10.9
222 lipoyltransferase 1 deficiency 10.9
223 combined oxidative phosphorylation deficiency 29 10.9
224 striatonigral degeneration, childhood-onset 10.9
225 neurodevelopmental disorder with hypotonia, seizures, and absent language 10.9
226 lopes-maciel-rodan syndrome 10.9
227 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 10.9
228 leukodystrophy, progressive, early childhood-onset 10.9
229 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 10.9
230 epileptic encephalopathy, infantile or early childhood, 2 10.9
231 neurodevelopmental disorder with poor language and loss of hand skills 10.9
232 neurodegeneration with brain iron accumulation 7 10.9
233 neurodegeneration with brain iron accumulation 8 10.9
234 jaberi-elahi syndrome 10.9
235 basal ganglia calcification, idiopathic, 7, autosomal recessive 10.9
236 combined oxidative phosphorylation deficiency 39 10.9
237 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 10.9
238 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 10.9
239 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 10.9
240 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 10.9
241 basal ganglia calcification, idiopathic, 8, autosomal recessive 10.9
242 leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 10.9
243 spastic ataxia 5 10.9
244 autosomal recessive cutis laxa type iii 10.9
245 niemann-pick disease 10.9
246 clpb deficiency 10.9
247 familial porencephaly 10.9
248 spastic paraplegia 26 10.9
249 cask-related intellectual disability 10.9
250 chmp2b-related frontotemporal dementia 10.9
251 grn-related frontotemporal lobar degeneration 10.9
252 deep brain stimulation for movement disorders 10.9
253 generalized gangliosidoses 10.9
254 myoclonus 10.9
255 paroxysmal dyskinesia 10.8
256 lingual-facial-buccal dyskinesia 10.8
257 ataxia and polyneuropathy, adult-onset 10.7
258 cerebral palsy 10.7
259 dysphagia 10.7
260 spasticity 10.6
261 chorea, childhood-onset, with psychomotor retardation 10.6
262 choreatic disease 10.6
263 essential tremor 10.6
264 hemifacial spasm, familial 10.5
265 hemifacial spasm 10.5
266 parkinson disease, late-onset 10.5
267 complex regional pain syndrome 10.4
268 cryptorchidism, unilateral or bilateral 10.4
269 cholestasis 10.4
270 autosomal dominant cerebellar ataxia 10.4
271 neuropathy 10.4
272 hypertonia 10.4
273 obsessive-compulsive disorder 10.4
274 athetosis 10.4
275 encephalopathy 10.4
276 tic disorder 10.4
277 supranuclear palsy, progressive, 1 10.4
278 chlamydia 10.4
279 scoliosis 10.4
280 atp1a3-related neurologic disorders 10.3
281 hypotonia 10.3
282 multiple system atrophy 1 10.3
283 alacrima, achalasia, and mental retardation syndrome 10.3
284 apraxia 10.3
285 seizure disorder 10.3
286 multiple sclerosis 10.3
287 3-methylglutaconic aciduria, type iii 10.3
288 hemiplegia 10.3
289 visual epilepsy 10.3
290 dyskinetic cerebral palsy 10.3
291 optic nerve disease 10.3
292 ataxia-telangiectasia 10.2
293 stuttering 10.2
294 telangiectasis 10.2
295 paraplegia 10.2
296 rare movement disorder 10.2
297 anxiety 10.2
298 ptosis 10.2
299 epilepsy 10.2
300 encephalitis 10.2
301 gilles de la tourette syndrome 10.2
302 migraine with or without aura 1 10.2
303 bruxism 10.2
304 chronic pain 10.2
305 gangliosidosis 10.2
306 hereditary optic neuropathy 10.2
307 nasopharyngeal carcinoma 10.2
308 covid-19 10.2
309 severe acute respiratory syndrome 10.2
310 lynch syndrome 10.2
311 sensory peripheral neuropathy 10.2
312 bipolar disorder 10.2
313 myopathy 10.2
314 sleep disorder 10.2
315 pathologic nystagmus 10.2
316 headache 10.2
317 branchiootic syndrome 1 10.2
318 dystonia 10.2
319 discrimination, two-point, reduction in 10.2
320 hereditary spastic paraplegia 10.2
321 47,xyy 10.2
322 depression 10.2
323 head injury 10.2
324 leber optic atrophy 10.2
325 reflex sympathetic dystrophy 10.2
326 major affective disorder 8 10.2
327 major affective disorder 9 10.2
328 autosomal recessive disease 10.2
329 sensorineural hearing loss 10.2
330 microcephaly 10.2
331 algoneurodystrophy 10.2
332 peripheral nervous system disease 10.2
333 neurodegeneration with brain iron accumulation 2a 10.1
334 hereditary sensory neuropathy 10.1
335 tetanus 10.1
336 hyperthyroidism 10.1
337 stroke, ischemic 10.1
338 neuroleptic malignant syndrome 10.1
339 mental depression 10.1
340 kearns-sayre syndrome 10.1
341 muscle hypertrophy 10.1
342 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
343 mood disorder 10.1
344 radiculopathy 10.1
345 basal ganglia disease 10.1
346 bullous pemphigoid 10.1
347 hyperphenylalaninemia 10.1
348 anoxia 10.1
349 brain injury 10.1
350 hereditary neuropathies 10.1
351 benign paroxysmal torticollis of infancy 10.1
352 abetalipoproteinemia 10.1
353 graves disease 1 10.1
354 yemenite deaf-blind hypopigmentation syndrome 10.1
355 apraxia of eyelid opening 10.1
356 meningioma, radiation-induced 10.1
357 meningioma, familial 10.1
358 major depressive disorder 10.1
359 leber plus disease 10.1
360 spinal meningioma 10.1
361 dementia 10.1
362 focal epilepsy 10.1
363 neuroaxonal dystrophy 10.1
364 secretory meningioma 10.1
365 lymphoplasmacyte-rich meningioma 10.1
366 polycythemia 10.1
367 homocystinuria 10.1
368 gastroesophageal reflux 10.0
369 attention deficit-hyperactivity disorder 10.0
370 schizophrenia 10.0
371 striatal degeneration, autosomal dominant 2 10.0
372 west syndrome 10.0
373 basal ganglia calcification 10.0
374 leukodystrophy 10.0
375 autonomic neuropathy 10.0
376 pseudobulbar palsy 10.0
377 methylmalonic acidemia 10.0
378 status epilepticus 10.0
379 spondylosis 10.0
380 causalgia 10.0
381 temporal lobe epilepsy 10.0
382 speech disorder 10.0
383 traumatic brain injury 10.0
384 hypertension, essential 10.0
385 syringomyelia, noncommunicating isolated 10.0
386 ocular motor apraxia 10.0
387 angina pectoris 10.0
388 early-onset parkinson's disease 10.0
389 hydrocephalus 10.0
390 spastic diplegia 10.0
391 quadriplegia 10.0
392 generalized anxiety disorder 10.0
393 constipation 10.0
394 syringomyelia 10.0
395 liver cirrhosis 10.0
396 central pontine myelinolysis 10.0
397 inherited metabolic disorder 10.0
398 cerebrovascular disease 10.0
399 spastic paraparesis 10.0
400 alcohol dependence 10.0
401 amyotrophic lateral sclerosis 1 10.0
402 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
403 frontotemporal dementia 10.0
404 pyruvate dehydrogenase e1-beta deficiency 10.0
405 alcohol-related neurodevelopmental disorder 10.0
406 aphasia 10.0
407 3-methylglutaconic aciduria 10.0
408 social phobia 10.0
409 lateral sclerosis 10.0
410 substance abuse 10.0
411 lactic acidosis 10.0
412 plexopathy 10.0
413 liver disease 10.0
414 neurotic disorder 10.0
415 mitochondrial myopathy 10.0
416 muscular atrophy 10.0
417 learning disability 10.0
418 muscular dystrophy 10.0
419 mitochondrial disorders 10.0
420 48,xyyy 10.0
421 autonomic dysfunction 10.0
422 dysautonomia 10.0
423 paroxysmal choreoathetosis 10.0
424 alzheimer disease 9.9
425 carpal tunnel syndrome 9.9
426 seizures, benign familial neonatal, 1 9.9
427 creutzfeldt-jakob disease 9.9
428 dyschromatosis symmetrica hereditaria 9.9
429 spondylosis, cervical 9.9
430 strabismus 9.9
431 immune deficiency disease 9.9
432 moyamoya disease 1 9.9
433 myasthenia gravis 9.9
434 schizencephaly 9.9
435 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 9.9
436 cyanosis, transient neonatal 9.9
437 foodborne botulism 9.9
438 restless legs syndrome 9.9
439 hereditary ataxia 9.9
440 pain agnosia 9.9
441 neuroretinitis 9.9
442 japanese encephalitis 9.9
443 goiter 9.9
444 personality disorder 9.9
445 conversion disorder 9.9
446 gm2 gangliosidosis 9.9
447 retinitis 9.9
448 panic disorder 9.9
449 axonal neuropathy 9.9
450 peptic ulcer disease 9.9
451 neuroblastoma 9.9
452 subacute delirium 9.9
453 chickenpox 9.9
454 lupus erythematosus 9.9
455 neuromyelitis optica 9.9
456 mechanical strabismus 9.9
457 episodic ataxia 9.9
458 18p deletion syndrome 9.9
459 ataxia with vitamin e deficiency 9.9
460 isolated methylmalonic acidemia 9.9
461 mitochondrial dna-associated leigh syndrome and narp 9.9
462 pseudobulbar affect 9.9
463 pure autonomic failure 9.9
464 tuberculous meningitis 9.9
465 extrapontine myelinolysis 9.9
466 hypoxia 9.9
467 specific language disorder 9.9
468 acrocephalopolysyndactyly type iii 9.9
469 candidiasis, familial, 1 9.9
470 major affective disorder 1 9.9
471 hand skill, relative 9.9
472 systemic lupus erythematosus 9.9
473 autism 9.9
474 celiac disease 1 9.9
475 cerebrotendinous xanthomatosis 9.9
476 fucosidosis 9.9
477 metachromatic leukodystrophy 9.9
478 subacute sclerosing panencephalitis 9.9
479 phenylketonuria 9.9
480 tay-sachs disease 9.9
481 xeroderma pigmentosum, variant type 9.9
482 agammaglobulinemia, x-linked 9.9
483 paine syndrome 9.9
484 xanthomatosis 9.9
485 spastic paraplegia 11, autosomal recessive 9.9
486 orthostatic intolerance 9.9
487 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.9
488 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.9
489 exanthem 9.9
490 sleep apnea 9.9
491 spastic ataxia 9.9
492 autism spectrum disorder 9.9
493 idiopathic scoliosis 9.9
494 hypomyelinating leukodystrophy 9.9
495 meningoencephalitis 9.9
496 spastic quadriplegia 9.9
497 respiratory failure 9.9
498 arteriovenous malformation 9.9
499 cortical blindness 9.9
500 megaesophagus 9.9
501 polyneuropathy 9.9
502 facial paralysis 9.9
503 neuronal ceroid lipofuscinosis 9.9
504 hypothyroidism 9.9
505 angioedema 9.9
506 alcohol use disorder 9.9
507 thrombocytopenia 9.9
508 pericarditis 9.9
509 dysostosis 9.9
510 gastroenteritis 9.9
511 iron metabolism disease 9.9
512 relapsing-remitting multiple sclerosis 9.9
513 agammaglobulinemia 9.9
514 pulmonary tuberculosis 9.9
515 astrocytoma 9.9
516 early myoclonic encephalopathy 9.9
517 dysgraphia 9.9
518 striatonigral degeneration 9.9
519 acquired immunodeficiency syndrome 9.9
520 progressive multifocal leukoencephalopathy 9.9
521 cocaine abuse 9.9
522 meningitis 9.9
523 hypoglycemia 9.9
524 baraitser-winter cerebrofrontofacial syndrome 9.9
525 slc6a3-related dopamine transporter deficiency syndrome 9.9
526 sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 9.9
527 congenital torticollis 9.9
528 glioma 9.9
529 paresthesia 9.9
530 spinocerebellar degeneration 9.9
531 whiplash 9.9
532 glial tumor 9.9
533 uniparental disomy of chromosome 7 9.9
534 multiple system atrophy, parkinsonian type 9.9
535 episodic ataxia, type 2 9.8
536 spinocerebellar ataxia 31 9.8
537 cornelia de lange syndrome 1 9.8
538 dentatorubral-pallidoluysian atrophy 9.8
539 facial spasm 9.8
540 laryngomalacia 9.8
541 neuropathy, hereditary, with liability to pressure palsies 9.8
542 silver-russell syndrome 1 9.8
543 spinal arachnoiditis 9.8
544 digeorge syndrome 9.8
545 trigeminal neuralgia 9.8
546 vitiligo-associated multiple autoimmune disease susceptibility 6 9.8
547 homocystinuria due to cystathionine beta-synthase deficiency 9.8
548 hydrocephalus, congenital, 1 9.8
549 baraitser-winter syndrome 1 9.8
550 macrocephaly/megalencephaly syndrome, autosomal recessive 9.8
551 epilepsy, progressive myoclonic, 4, with or without renal failure 9.8
552 retinitis pigmentosa 9.8
553 sjogren syndrome 9.8
554 xeroderma pigmentosum, complementation group a 9.8
555 arts syndrome 9.8
556 rett syndrome 9.8
557 mitochondrial complex i deficiency, mitochondrial type 1 9.8
558 cerebellar ataxia, cayman type 9.8
559 langerhans cell histiocytosis 9.8
560 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 9.8
561 vitiligo-associated multiple autoimmune disease susceptibility 1 9.8
562 spinocerebellar ataxia 8 9.8
563 human immunodeficiency virus type 1 9.8
564 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
565 intraocular pressure quantitative trait locus 9.8
566 spinocerebellar ataxia 36 9.8
567 leukemia, acute lymphoblastic 3 9.8
568 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.8
569 tendinitis 9.8
570 2-hydroxyglutaric aciduria 9.8
571 spastic cerebral palsy 9.8
572 small cell carcinoma 9.8
573 secondary progressive multiple sclerosis 9.8
574 alexithymia 9.8
575 familial hemiplegic migraine 9.8
576 cardiac arrest 9.8
577 hereditary lymphedema ii 9.8
578 cerebellar hypoplasia 9.8
579 asymptomatic neurosyphilis 9.8
580 siderosis 9.8
581 amnestic disorder 9.8
582 borderline personality disorder 9.8
583 hypoparathyroidism 9.8
584 cornelia de lange syndrome 9.8
585 esophagitis 9.8
586 neurogenic bladder 9.8
587 arachnoiditis 9.8
588 paranoid schizophrenia 9.8
589 atypical depressive disorder 9.8
590 entropion 9.8
591 bell's palsy 9.8
592 dilated cardiomyopathy 9.8
593 lagophthalmos 9.8
594 hypermobility syndrome 9.8
595 achromatopsia 9.8
596 somatization disorder 9.8
597 amenorrhea 9.8
598 facial hemiatrophy 9.8
599 factitious disorder 9.8
600 calcinosis 9.8
601 hypogonadism 9.8
602 hepatitis b 9.8
603 pharyngitis 9.8
604 wernicke encephalopathy 9.8
605 psychotic disorder 9.8
606 cerebellar disease 9.8
607 antiphospholipid syndrome 9.8
608 demyelinating disease 9.8
609 ischemia 9.8
610 benign epilepsy with centrotemporal spikes 9.8
611 histiocytosis 9.8
612 anterior cerebral artery infarction 9.8
613 insulinoma 9.8
614 systemic scleroderma 9.8
615 mutism 9.8
616 rhinitis 9.8
617 ulnar neuropathy 9.8
618 somatoform disorder 9.8
619 angiokeratoma 9.8
620 benign ependymoma 9.8
621 schizoaffective disorder 9.8
622 cellular ependymoma 9.8
623 spinal cord ependymoma 9.8
624 eye disease 9.8
625 agoraphobia 9.8
626 severe combined immunodeficiency 9.8
627 spinal stenosis 9.8
628 cataract 9.8
629 cyclothymic disorder 9.8
630 localized scleroderma 9.8
631 neurofibromatosis 9.8
632 mitochondrial encephalomyopathy 9.8
633 achalasia 9.8
634 irritable bowel syndrome 9.8
635 toxoplasmosis 9.8
636 limb-girdle muscular dystrophy 9.8
637 tetrahydrobiopterin deficiency 9.8
638 gnb1 encephalopathy 9.8
639 hypermobile ehlers-danlos syndrome 9.8
640 tubulinopathies 9.8
641 aids dementia complex 9.8
642 alien hand syndrome 9.8
643 diencephalic syndrome 9.8
644 fibromatosis 9.8
645 growth hormone deficiency 9.8
646 juvenile amyotrophic lateral sclerosis 9.8
647 juvenile huntington disease 9.8
648 myoclonus epilepsy 9.8
649 neonatal stroke 9.8
650 neurosyphilis 9.8
651 opsoclonus-myoclonus syndrome 9.8
652 pachygyria 9.8
653 st anthony's fire 9.8
654 cerebral atrophy 9.8
655 cerebral hypoxia 9.8
656 foot drop 9.8
657 megalencephaly 9.8
658 occipital neuralgia 9.8
659 spinal cord injury 9.8
660 syncope 9.8
661 rare neurodegenerative disease 9.8
662 neonatal hypoxic and ischemic brain injury 9.8
663 superficial siderosis 9.8
664 primary myoclonus 9.8
665 manganese poisoning 9.8
666 neurometabolic disease 9.8
667 maternal uniparental disomy 9.8
668 lysosomal storage disease with skeletal involvement 9.8
669 oculomotor apraxia 9.8
670 pfeiffer syndrome 9.6
671 spondyloarthropathy 1 9.6
672 apnea, obstructive sleep 9.6
673 atherosclerosis susceptibility 9.6
674 atrial standstill 1 9.6
675 autoimmune disease 9.6
676 breast cancer 9.6
677 cat eye syndrome 9.6
678 cerebral cavernous malformations 9.6
679 sotos syndrome 1 9.6
680 cervical rib 9.6
681 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.6
682 hashimoto thyroiditis 9.6
683 hemifacial atrophy, progressive 9.6
684 hypertelorism 9.6
685 opitz gbbb syndrome, type ii 9.6
686 chromosome 9p deletion syndrome 9.6
687 myositis 9.6
688 ocular dominance 9.6
689 spinocerebellar ataxia 7 9.6
690 optic atrophy 1 9.6
691 osteoporosis 9.6
692 palmomental reflex 9.6
693 paralysis agitans, juvenile, of hunt 9.6
694 pheochromocytoma 9.6
695 prostate cancer 9.6
696 retinal detachment 9.6
697 sarcoidosis 1 9.6
698 scoliosis, isolated 1 9.6
699 stiff-person syndrome 9.6
700 sturge-weber syndrome 9.6
701 supravalvular aortic stenosis 9.6
702 chromosome 2q35 duplication syndrome 9.6
703 tremor, hereditary essential, 1 9.6
704 triiodothyronine receptor auxiliary protein 9.6
705 varicose veins 9.6
706 zinc finger protein 1 9.6
707 alexander disease 9.6
708 ceroid lipofuscinosis, neuronal, 2 9.6
709 amyotrophic lateral sclerosis 2, juvenile 9.6
710 anencephaly 9.6
711 chiari malformation type ii 9.6
712 gordon holmes syndrome 9.6
713 cerebellar ataxia, early-onset, with retained tendon reflexes 9.6
714 chediak-higashi syndrome 9.6
715 chondrodysplasia punctata syndrome 9.6
716 costello syndrome 9.6
717 mitochondrial complex iv deficiency 9.6
718 leukoencephalopathy, hereditary diffuse, with spheroids 9.6
719 friedreich ataxia 9.6
720 gaucher disease, type i 9.6
721 hemochromatosis, neonatal 9.6
722 hartnup disorder 9.6
723 hemochromatosis, type 1 9.6
724 l-2-hydroxyglutaric aciduria 9.6
725 chylomicron retention disease 9.6
726 mast syndrome 9.6
727 3-hydroxyisobutyryl-coa hydrolase deficiency 9.6
728 methylmalonyl-coa epimerase deficiency 9.6
729 epilepsy, myoclonic juvenile 9.6
730 nephrotic syndrome, type 1 9.6
731 parkinson disease 15, autosomal recessive early-onset 9.6
732 hyperphenylalaninemia, bh4-deficient, c 9.6
733 abnormal hair, joint laxity, and developmental delay 9.6
734 pituitary hormone deficiency, combined, 2 9.6
735 sjogren-larsson syndrome 9.6
736 canavan disease 9.6
737 vitamin e, familial isolated deficiency of 9.6
738 coats disease 9.6
739 lubs x-linked mental retardation syndrome 9.6
740 alpha-thalassemia/mental retardation syndrome, x-linked 9.6
741 tubulin, beta 9.6
742 russell-silver syndrome, x-linked 9.6
743 aging 9.6
744 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.6
745 spinocerebellar ataxia 4 9.6
746 asthma 9.6
747 chromosome 18q deletion syndrome 9.6
748 migraine, familial hemiplegic, 2 9.6
749 chondrodysplasia punctata, brachytelephalangic, autosomal 9.6
750 macular degeneration, age-related, 1 9.6
751 homocysteinemia 9.6
752 polydactyly 9.6
753 brittle bone disorder 9.6
754 alpha-thalassemia 9.6
755 polycystic bone disease 9.6
756 spastic paraplegia 13, autosomal dominant 9.6
757 abdominal obesity-metabolic syndrome 1 9.6
758 pulmonary disease, chronic obstructive 9.6
759 spastic paraplegia 7, autosomal recessive 9.6
760 resting heart rate, variation in 9.6
761 coronary heart disease 1 9.6
762 spinocerebellar ataxia 19 9.6
763 panic disorder 2 9.6
764 mycobacterium tuberculosis 1 9.6
765 leukemia, chronic myeloid 9.6
766 supranuclear palsy, progressive, 2 9.6
767 bone mineral density quantitative trait locus 8 9.6
768 congenital disorder of glycosylation, type in 9.6
769 chromosome 19q13.11 deletion syndrome, distal 9.6
770 leukemia, acute lymphoblastic 9.6
771 bone mineral density quantitative trait locus 15 9.6
772 tumor predisposition syndrome 9.6
773 periodic fever, menstrual cycle-dependent 9.6
774 alternating hemiplegia of childhood 2 9.6
775 aicardi-goutieres syndrome 6 9.6
776 spastic paraplegia 56, autosomal recessive 9.6
777 spinocerebellar ataxia, autosomal recessive 16 9.6
778 mitochondrial short-chain enoyl-coa hydratase 1 deficiency 9.6
779 chops syndrome 9.6
780 heart and brain malformation syndrome 9.6
781 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.6
782 joint laxity, short stature, and myopia 9.6
783 silver-russell syndrome 2 9.6
784 congenital methemoglobinemia 9.6
785 deficiency anemia 9.6
786 pulmonary hypertension 9.6
787 sydenham chorea 9.6
788 aspiration pneumonia 9.6
789 familial adenomatous polyposis 9.6
790 periventricular nodular heterotopia 9.6
791 exanthema subitum 9.6
792 oculocutaneous albinism 9.6
793 early infantile epileptic encephalopathy 9.6
794 vitamin b12 deficiency 9.6
795 oppositional defiant disorder 9.6
796 adrenal gland pheochromocytoma 9.6
797 hypomyelinating leukoencephalopathy 9.6
798 withdrawal disorder 9.6
799 sexual disorder 9.6
800 anosognosia 9.6
801 organic acidemia 9.6
802 congenital ptosis 9.6
803 photosensitive epilepsy 9.6
804 paroxysmal nocturnal hemoglobinuria 9.6
805 autosomal recessive non-syndromic intellectual disability 9.6
806 inguinal hernia 9.6
807 muscular disease 9.6
808 physical disorder 9.6
809 myoglobinuria 9.6
810 mucolipidosis 9.6
811 non-alcoholic steatohepatitis 9.6
812 middle east respiratory syndrome 9.6
813 hypogonadotropic hypogonadism 9.6
814 alpha thalassemia-x-linked intellectual disability syndrome 9.6
815 molybdenum cofactor deficiency 9.6
816 familial episodic pain syndrome 9.6
817 keratoconus 9.6
818 optic papillitis 9.6
819 cholelithiasis 9.6
820 thalassemia 9.6
821 anthracosilicosis 9.6
822 tonsillitis 9.6
823 common cold 9.6
824 nasopharyngitis 9.6
825 methemoglobinemia 9.6
826 impulse control disorder 9.6
827 intracranial aneurysm 9.6
828 asphyxia neonatorum 9.6
829 pertussis 9.6
830 megacolon 9.6
831 heart disease 9.6
832 diphtheria 9.6
833 choroiditis 9.6
834 polycystic ovary syndrome 9.6
835 iron deficiency anemia 9.6
836 myopia 9.6
837 clubfoot 9.6
838 nephrotic syndrome 9.6
839 allergic hypersensitivity disease 9.6
840 inflammatory spondylopathy 9.6
841 dysthymic disorder 9.6
842 low compliance bladder 9.6
843 detrusor sphincter dyssynergia 9.6
844 spinal muscular atrophy 9.6
845 spastic entropion 9.6
846 pathological gambling 9.6
847 leukemia 9.6
848 pancytopenia 9.6
849 hepatic coma 9.6
850 hemolytic-uremic syndrome 9.6
851 chronic progressive external ophthalmoplegia 9.6
852 acoustic neuroma 9.6
853 cerebral atherosclerosis 9.6
854 migraine without aura 9.6
855 senile entropion 9.6
856 hypochondriasis 9.6
857 conduct disorder 9.6
858 carotid stenosis 9.6
859 transient global amnesia 9.6
860 periventricular leukomalacia 9.6
861 diarrhea 9.6
862 hepatic encephalopathy 9.6
863 opisthorchiasis 9.6
864 bipolar i disorder 9.6
865 azoospermia 9.6
866 oral candidiasis 9.6
867 postencephalitic parkinson disease 9.6
868 estrogen excess 9.6
869 gonadal dysgenesis 9.6
870 glossitis 9.6
871 disease of mental health 9.6
872 avoidant personality disorder 9.6
873 central nervous system tuberculosis 9.6
874 ventricular septal defect 9.6
875 heart septal defect 9.6
876 ichthyosis 9.6
877 retinal vein occlusion 9.6
878 neuritis 9.6
879 childhood absence epilepsy 9.6
880 impotence 9.6
881 malignant fibrous histiocytoma 9.6
882 gaucher's disease 9.6
883 cholecystitis 9.6
884 hyperinsulinism 9.6
885 encephalomalacia 9.6
886 drug-induced hepatitis 9.6
887 hyperostosis 9.6
888 post-traumatic stress disorder 9.6
889 b cell deficiency 9.6
890 motor neuron disease 9.6
891 central retinal vein occlusion 9.6
892 chronic conjunctivitis 9.6
893 familial nephrotic syndrome 9.6
894 larynx cancer 9.6
895 dermatitis 9.6
896 epidermolysis bullosa 9.6
897 bilirubin metabolic disorder 9.6
898 glucosephosphate dehydrogenase deficiency 9.6
899 cockayne syndrome 9.6
900 acute kidney failure 9.6
901 grade iii astrocytoma 9.6
902 thoracic outlet syndrome 9.6
903 lipid metabolism disorder 9.6
904 spinal cord disease 9.6
905 nemaline myopathy 9.6
906 neurilemmoma 9.6
907 lysosomal storage disease 9.6
908 myelitis 9.6
909 central nervous system lymphoma 9.6
910 germinoma 9.6
911 embryonal carcinoma 9.6
912 cerebritis 9.6
913 cellulitis 9.6
914 systemic mastocytosis 9.6
915 turner syndrome 9.6
916 mastocytosis 9.6
917 kallmann syndrome 9.6
918 leukorrhea 9.6
919 craniopharyngioma 9.6
920 placental insufficiency 9.6
921 pseudohypoparathyroidism 9.6
922 hyperglycemia 9.6
923 polyradiculoneuropathy 9.6
924 myofascial pain syndrome 9.6
925 erdheim-chester disease 9.6
926 neuromuscular disease 9.6
927 fibrous histiocytoma 9.6
928 epidermolysis bullosa simplex 9.6
929 vasomotor rhinitis 9.6
930 anterior horn cell disease 9.6
931 adjustment disorder 9.6
932 ovarian cyst 9.6
933 borna disease 9.6
934 chronic inflammatory demyelinating polyradiculoneuropathy 9.6
935 demyelinating polyneuropathy 9.6
936 von economo's disease 9.6
937 pituitary gland disease 9.6
938 internuclear ophthalmoplegia 9.6
939 lung oat cell carcinoma 9.6
940 kidney disease 9.6
941 hemoglobinuria 9.6
942 hemolytic anemia 9.6
943 phobic disorder 9.6
944 congestive heart failure 9.6
945 acute stress disorder 9.6
946 bronchitis 9.6
947 lymphopenia 9.6
948 conjunctivitis 9.6
949 cerebellopontine angle meningioma 9.6
950 prion disease 9.6
951 adenoma 9.6
952 spondylitis 9.6
953 diffuse idiopathic skeletal hyperostosis 9.6
954 compartment syndrome 9.6
955 mitochondrial metabolism disease 9.6
956 thyroiditis 9.6
957 delusional disorder 9.6
958 osteochondrosis 9.6
959 myocarditis 9.6
960 scabies 9.6
961 osteoarthritis 9.6
962 brachial plexus lesion 9.6
963 whipple disease 9.6
964 measles 9.6
965 nervous system disease 9.6
966 vasculitis 9.6
967 myeloid leukemia 9.6
968 rosacea 9.6
969 progressive myoclonus epilepsy 9.6
970 central sleep apnea 9.6
971 tyrosinemia 9.6
972 primary cerebellar degeneration 9.6
973 scotoma 9.6
974 diabetes mellitus 9.6
975 bacterial meningitis 9.6
976 cannabis abuse 9.6
977 neurofibroma 9.6
978 stomatitis 9.6
979 diabetic neuropathy 9.6
980 miliary tuberculosis 9.6
981 alopecia 9.6
982 drug dependence 9.6
983 cocaine dependence 9.6
984 albinism 9.6
985 als2-related disorders 9.6
986 bap1 tumor predisposition syndrome 9.6
987 berardinelli-seip congenital lipodystrophy 9.6
988 glb1-related disorders 9.6
989 lrrk2 parkinson disease 9.6
990 nkx2-1-related disorders 9.6
991 nuclear gene-encoded leigh syndrome 9.6
992 otof-related deafness 9.6
993 polr3-related leukodystrophy 9.6
994 stxbp1 encephalopathy with epilepsy 9.6
995 tbc1d24-related disorders 9.6
996 vps13d movement disorder 9.6
997 adrenomyeloneuropathy 9.6
998 aminoacidopathies 9.6
999 auditory neuropathy spectrum disorder 9.6
1000 autoimmune encephalitis 9.6
1001 brittle diabetes 9.6
1002 central pain syndrome 9.6
1003 cerebellar degeneration 9.6
1004 chiari malformation 9.6
1005 chromosomal triplication 9.6
1006 cluster headache 9.6
1007 complete androgen insensitivity syndrome 9.6
1008 dentinogenesis imperfecta type 2 9.6
1009 eales disease 9.6
1010 erythrokeratoderma ''en cocardes'' 9.6
1011 foix chavany marie syndrome 9.6
1012 germ cells tumors 9.6
1013 gigantism 9.6
1014 granulocytopenia 9.6
1015 hyperacusis 9.6
1016 linear scleroderma 9.6
1017 malignant migrating partial seizures of infancy 9.6
1018 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 9.6
1019 mitral valve prolapse, familial, x-linked 9.6
1020 oligoastrocytoma 9.6
1021 phacomatosis pigmentokeratotica 9.6
1022 phacomatosis pigmentovascularis 9.6
1023 piriformis syndrome 9.6
1024 pontine hemorrhage 9.6
1025 primary central nervous system lymphoma 9.6
1026 primary orthostatic tremor 9.6
1027 ring chromosome 21 9.6
1028 serpiginous choroiditis 9.6
1029 spastic diplegia cerebral palsy 9.6
1030 spastic paraplegia 13 9.6
1031 spondylarthropathy 9.6
1032 transverse myelitis 9.6
1033 wallerian degeneration 9.6
1034 weber syndrome 9.6
1035 raynaud phenomenon 9.6
1036 bunion 9.6
1037 back pain 9.6
1038 cavernous malformation 9.6
1039 cerebral aneurysms 9.6
1040 dementia - subcortical 9.6
1041 fainting 9.6
1042 infantile hypotonia 9.6
1043 myotonia 9.6
1044 ohtahara syndrome 9.6
1045 paraneoplastic syndromes 9.6
1046 persistent vegetative state 9.6
1047 repetitive motion disorders 9.6
1048 rheumatic encephalitis 9.6
1049 spinocerebellar atrophy 9.6
1050 swallowing disorders 9.6
1051 posttransplant acute limbic encephalitis 9.6
1052 rare genetic movement disorder 9.6
1053 autosomal dominant progressive external ophthalmoplegia 9.6
1054 phakomatosis pigmentokeratotica 9.6
1055 classic progressive supranuclear palsy syndrome 9.6
1056 ring chromosome 9.6
1057 rare paroxysmal movement disorder 9.6
1058 motor stereotypies 9.6
1059 congenital nemaline myopathy 9.6
1060 cyanide poisoning 9.6
1061 pediatric arterial ischemic stroke 9.6
1062 idiopathic dropped head syndrome 9.6
1063 cerebral visual impairment 9.6
1064 rare hyperkinetic movement disorder 9.6
1065 methanol poisoning 9.6
1066 disorder of energy metabolism 9.6
1067 pik3ca-related overgrowth syndrome 9.6
1068 serotonin syndrome 9.6
1069 lysosomal disease 9.6
1070 non-specific syndromic intellectual disability 9.6
1071 paternal uniparental disomy 9.6
1072 chronic encephalitis 9.6
1073 infantile epilepsy syndrome 9.6
1074 dementia pugilistica 9.6

Graphical network of the top 20 diseases related to Deafness, Dystonia, and Cerebral Hypomyelination:



Diseases related to Deafness, Dystonia, and Cerebral Hypomyelination

Symptoms & Phenotypes for Deafness, Dystonia, and Cerebral Hypomyelination

Human phenotypes related to Deafness, Dystonia, and Cerebral Hypomyelination:

58 31 (showing 27, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
2 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
3 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
4 abnormal pyramidal sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0007256
5 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
6 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
7 tetraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0002445
8 recurrent fever 58 31 frequent (33%) Frequent (79-30%) HP:0001954
9 cerebral hypomyelination 58 31 frequent (33%) Frequent (79-30%) HP:0006808
10 strabismus 31 frequent (33%) HP:0000486
11 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
12 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
13 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
14 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
15 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
16 corpus callosum atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007371
17 seizure 31 occasional (7.5%) HP:0001250
18 global developmental delay 31 HP:0001263
19 sensorineural hearing impairment 31 HP:0000407
20 intellectual disability, severe 31 HP:0010864
21 abnormality of eye movement 58 Occasional (29-5%)
22 dystonia 31 HP:0001332
23 cerebral atrophy 31 HP:0002059
24 brain atrophy 58 Occasional (29-5%)
25 cns hypomyelination 58 Occasional (29-5%)
26 cerebral white matter atrophy 58 Occasional (29-5%)
27 congenital strabismus 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
microcephaly

Head And Neck Eyes:
strabismus
optic atrophy (in some patients)

Head And Neck Ears:
sensorineural deafness

Laboratory Abnormalities:
abnormal liver enzymes during illness

Growth Other:
failure to thrive

Neurologic Central Nervous System:
dystonia
cerebellar atrophy
cerebral atrophy
hypomyelination
pyramidal signs
more
Head And Neck Face:
facial dysmorphism

Clinical features from OMIM:

300475

UMLS symptoms related to Deafness, Dystonia, and Cerebral Hypomyelination:


abnormal pyramidal signs

Drugs & Therapeutics for Deafness, Dystonia, and Cerebral Hypomyelination

Drugs for Deafness, Dystonia, and Cerebral Hypomyelination (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 167, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
2
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
3
Amantadine Approved Phase 4 768-94-5 2130
4
Selegiline Approved, Investigational, Vet_approved Phase 4 14611-51-9 5195 26757
5
Rasagiline Approved Phase 4 136236-51-6 3052776
6
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
7
Levodopa Approved Phase 4 59-92-7 6047
8
Carbidopa Approved Phase 4 28860-95-9 34359
9
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
10
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
11
Remifentanil Approved Phase 4 132875-61-7 60815
12
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
13 incobotulinumtoxinA Phase 4
14 rimabotulinumtoxinB Phase 4
15 Antihypertensive Agents Phase 4
16 Vasodilator Agents Phase 4
17 Anti-Arrhythmia Agents Phase 4
18 Gastrointestinal Agents Phase 4
19 Dopamine Antagonists Phase 4
20 Serotonin Uptake Inhibitors Phase 4
21 Psychotropic Drugs Phase 4
22 Antiemetics Phase 4
23 Antipsychotic Agents Phase 4
24 Anti-Infective Agents Phase 4
25 Antiviral Agents Phase 4
26 Adrenergic Antagonists Phase 4
27 Protective Agents Phase 4
28 Antidepressive Agents Phase 4
29 Neuroprotective Agents Phase 4
30 Monoamine Oxidase Inhibitors Phase 4
31 Omega 3 Fatty Acid Phase 4
32 Antiparkinson Agents Phase 4
33 Dopamine Agents Phase 4
34 Carbidopa, levodopa drug combination Phase 4
35 Analgesics, Non-Narcotic Phase 4
36 Analgesics Phase 4
37 Anesthetics Phase 4
38 Anesthetics, General Phase 4
39 Anesthetics, Intravenous Phase 4
40 Aromatic Amino Acid Decarboxylase Inhibitors Phase 4
41 Adrenergic Agents Phase 4
42 Adrenergic alpha-Agonists Phase 4
43 Hypnotics and Sedatives Phase 4
44 Adrenergic Agonists Phase 4
45 Dopamine agonists Phase 4
46 Narcotics Phase 4
47 Analgesics, Opioid Phase 4
48 Immunologic Factors Phase 4
49 Adjuvants, Immunologic Phase 4
50 Cholinergic Agents Phase 4
51 Botulinum Toxins Phase 4
52 abobotulinumtoxinA Phase 4
53 Botulinum Toxins, Type A Phase 4
54
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
55
Iron Approved, Experimental Phase 3 15438-31-0, 7439-89-6 27284 23925
56
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
57
Promethazine Approved, Investigational Phase 3 60-87-7 4927
58
Diphenhydramine Approved, Investigational Phase 3 58-73-1, 147-24-0 3100
59
Deferiprone Approved Phase 3 30652-11-0 2972
60
Tetrabenazine Approved, Investigational Phase 3 58-46-8 6018
61
Histamine Approved, Investigational Phase 3 51-45-6 774
62
Haloperidol Approved Phase 3 52-86-8 3559
63
Sodium oxybate Approved Phase 2, Phase 3 502-85-2 5360545
64
Methylcobalamin Approved, Investigational Phase 2, Phase 3 13422-55-4
65
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 15589840 11953898
66
Ethanol Approved Phase 2, Phase 3 64-17-5 702
67
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
68
Cyanocobalamin Approved, Nutraceutical Phase 2, Phase 3 68-19-9 44176380
69
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3 65-23-6 1054
70
Cobalamin Experimental Phase 2, Phase 3 13408-78-1 6857388
71 Calcium, Dietary Phase 3
72 calcium channel blockers Phase 3
73 Chelating Agents Phase 3
74 Iron Chelating Agents Phase 3
75 Tiapride Hydrochloride Phase 3
76 Anti-Allergic Agents Phase 3
77 Histamine H1 Antagonists Phase 3
78
Histamine Phosphate Phase 3 51-74-1 65513
79 Dermatologic Agents Phase 3
80 Anesthetics, Local Phase 3
81 Histamine Antagonists Phase 3
82 Haloperidol decanoate Phase 3
83 Neurotransmitter Agents Phase 3
84 Trace Elements Phase 2, Phase 3
85 Vitamins Phase 2, Phase 3
86 Vitamin B 6 Phase 2, Phase 3
87 Vitamin B Complex Phase 2, Phase 3
88 Vitamin B 12 Phase 2, Phase 3
89 Vitamin B12 Phase 2, Phase 3
90 Nutrients Phase 2, Phase 3
91 Folate Phase 2, Phase 3
92 Micronutrients Phase 2, Phase 3
93 Vitamin B9 Phase 2, Phase 3
94
Calcium Nutraceutical Phase 3 7440-70-2 271
95
Pyridoxal Experimental, Nutraceutical Phase 2, Phase 3 66-72-8 1050
96
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078
97
Etanercept Approved, Investigational Phase 1, Phase 2 185243-69-0
98
Amlodipine Approved Phase 2 88150-42-9 2162
99
Trihexyphenidyl Approved Phase 2 144-11-6, 58947-95-8 5572
100
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178