Deafness, dystonia, and cerebral hypomyelination

Definition:

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.

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