Phytanoyl-CoA hydroxylase deficiency

Synonym(s)
- Refsum disease
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PHYH / Phytanoyl-CoA Hydroxylase
  10p13
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phytanoyl-CoA hydroxylase
Disease group(s)
- 14.2 Disorders of peroxisomal fatty acid oxidation