ABCA12 lipid transporter deficiency

Synonym(s)
- Autosomal recessive congenital ichthyosis type 4
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ABCA12 / ATP Binding Cassette Subfamily A Member 12
  2q35
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- ATP-binding cassette sub-family A member 12
Disease group(s)
- 14.6 Disorders of sphingolipid synthesis and recycling