ALDH1L2

aldehyde dehydrogenase 1 family member L2
OMIM: 613584, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Red ALDH1L2 in Mendeliome


Version 1.2302

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