D-bifunctional protein deficiency

Synonym(s)
- Pseudo-Zellweger syndrome
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- HSD17B4 / HSD17B4
  5q23.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Hydroxysteroid 17-beta dehydrogenase 4
Disease group(s)
- 14.2 Disorders of peroxisomal fatty acid oxidation
Child entries
- Perrault syndrome type 1