HSD10 disease

Synonym(s)
- 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- HSD17B10 / Hydroxysteroid 17-Beta Dehydrogenase 10
  Xp11.22
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Hydroxysteroid (17-beta) dehydrogenase 10, mitochondrial
Multimer
- RNaseP
Disease group(s)
- 10.1 Disorders of mitochondrial transcript processing and modification