Acylceramide transacylase deficiency

Synonym(s)
- Autosomal recessive congenital ichthyosis type 1
Type

Disease
External link(s)
- IEMbase
Gene
- PNPLA1 / patatin like phospholipase domain containing 1
  6p21.31
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Patatin-like phospholipase domain-containing protein 1
Disease group(s)
- 14.6 Disorders of sphingolipid synthesis and recycling