Very long-chain fatty acid elongase 1 deficiency

(IKSHD)

Synonym(s)
- Ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features
Type

Disease
External link(s)
- IEMbase
Gene
- ELOVL1 / ELOVL Fatty Acid Elongase 1
  1p34.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- ELOVL fatty acid elongase 1
Disease group(s)
- 14.1 Disorders of fatty acyl synthesis, elongation, and recycling