Alkylglycerone 3-phosphate synthase deficiency

Synonym(s)
- Rhizomelic chondrodysplasia punctata type 3
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- AGPS / Alkylglycerone Phosphate Synthase
  2q31.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Alkylglycerone phosphate synthase
Disease group(s)
- 14.5.3 Disorders of ether lipid metabolism