Autosomal recessive cutis laxa type 2D

An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13.

Also known as: ARCL2D, autosomal recessive cutis laxa type IID, cutis laxa, autosomal recessive, type 2D, cutis laxa, autosomal recessive, type IID

63 clinical trials for this condition and its sub-types.