Peroxisomal disordersGene: ABCD3
Associated with phenotype in OMIM, not in G2P. One homozygous patient identified. In Abcd3-/- mice, there was evidence of a bile acid biosynthesis defect.
Created: 23 Aug 2016, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Bile acid synthesis defect, congenital, 5 616278
Promoted to V1 3rd October 2016
ABCD3 was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory
ABCD3 was created by sleigh