Geranylgeranyl pyrophosphate synthase deficiency

Synonym(s)
- Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
Type

Disease
External link(s)
- IEMbase
Gene
- GGPS1 / Geranylgeranyl diphosphate synthase 1
  1q42.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Geranylgeranyl diphosphate synthase
Disease group(s)
- 14.7.1 Disorders of sterol biosynthesis