ALDH1L2

aldehyde dehydrogenase 1 family member L2
OMIM: 613584, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red ALDH1L2 in Ichthyosis and erythrokeratoderma


Level 2: Dermatology
Version 4.9
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • pruritic ichthyosis, severe diffuse hypomyelination seen on MRI, and abnormal lipid peaks