Disease

deafness, dystonia, and cerebral hypomyelination

Definition
A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in the BCAP31 gene on chromosome Xq28.
Synonyms
  • severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
  • severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome
Cross References
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None
Sources of Associations

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