autosomal recessive cutis laxa type 2C
An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.
MONDO:0009054
autosomal recessive cutis laxa type 2, classic type
excluded_subClassOf
MONDO:0019573
autosomal recessive cutis laxa type 2
is_a
ARCL2C
related
SPAC11E3.07