Glycerone 3-phosphate acyltransferase deficiency

Synonym(s)
- Rhizomelic chondrodysplasia punctata type 2
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- GNPAT / glyceronephosphate O-acyltransferase
  1q42.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Glyceronephosphate O-acyltransferase
Disease group(s)
- 14.5.3 Disorders of ether lipid metabolism