Fatty acid 2-hydroxylase deficiency

Synonym(s)
- Fatty acid hydroxylase-related neurodegeneration (FAHN)
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- FA2H / Fatty Acid 2-Hydroxylase
  16q23.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Fatty acid 2-hydroxylase
Disease group(s)
- 14.6 Disorders of sphingolipid synthesis and recycling
Child entries
- Autosomal recessive spastic paraplegia type 35