Deafness, Dystonia, and Cerebral Hypomyelination (DDCH)

Deafness, Dystonia, and Cerebral Hypomyelination(来自ICD-11)

别称:

Severe Motor and Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome

Severe Motor and Intellectual Disabilities-Sensorineural Hearing Loss-Dystonia Syndrome

Ddch

Deafness, Dystonia, Cerebral Hypomyelination

Contiguous Abcd1-Dxs1375e Deletion Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Deafness, Dystonia, and Cerebral Hypomyelination, also known as severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome, is related to dystonia and brown-vialetto-van laere syndrome 1, 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). Affiliated tissues include brain and eye, and related phenotypes are failure to thrive and abnormal pyramidal sign

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