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.
MONDO:0009054
autosomal recessive cutis laxa type 2, classic type
excluded_subClassOf
MONDO:0019573
autosomal recessive cutis laxa type 2
is_a
ARCL2D
exact
SPAC343.05