BCS1L deficiency

Synonym(s)
- GRACILE syndrome,
- Björnstad syndrome
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- BCS1L / BCS1 Like, Mitochondrial Intermembrane Chaperone
  2q35
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Mitochondrial Chaperone BCS1
Disease group(s)
- 7.3 Disorders of nuclear encoded complex III subunits and assembly factors