BAP31 deficiency

Synonym(s)
- Deafness, dystonia, and cerebral hypomyelination
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- BCAP31 / B-cell receptor associated protein 31
  Xq28
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- B-cell receptor-associated protein 31
Disease group(s)
- 19.5 Disorders of organelle interplay