/autosomal recessive cutis laxa type 2A

autosomal recessive cutis laxa type 2A

Rare Disease

MONDO:0018163

Also Known As

ARCL2Aautosomal recessive cutis laxa type 2Aautosomal recessive cutis laxa type IIAcutis laxa with Joint laxity and retarded developmentcutis laxa with bone dystrophycutis laxa with congenital disorder of glycosylationcutis laxa with growth and developmental delaycutis laxa, autosomal recessive type 2Acutis laxa, autosomal recessive, type 2Acutis laxa, autosomal recessive, type IIAcutis laxa, debre type

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.