ELOVL1

ELOVL fatty acid elongase 1
OMIM: 611813
PanelMode of inheritanceDetails
3 panels
R-numbers: R61
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527
R-numbers: R165
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527