Conditions / Syndrome
deafness, dystonia, and cerebral hypomyelination
info · Syndrome
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.
Signs and symptoms
- Microcephaly
- Dystonia
- Global developmental delay
- Cerebral hypomyelination
- Severe intellectual disability
- Failure to thrive
- Sensorineural hearing impairment
- Abnormal pyramidal sign
- Strabismus
- Tetraplegia
Also known as: severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome; severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome