Autosomal recessive cutis laxa type 2A
Autosomal recessive cutis laxa type 2A
Definition
An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.
Also known as ARCL2A, autosomal recessive cutis laxa type 2A, cutis laxa with bone dystrophy, cutis laxa with congenital disorder of glycosylation, cutis laxa with growth and developmental delay, cutis laxa with Joint laxity and retarded development, cutis laxa, autosomal recessive type 2A, cutis laxa, autosomal recessive, type 2A, cutis laxa, autosomal recessive, type IIA, cutis laxa, debre type — per MONDO