cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0100237
inherited cutis laxa
is_a
ARCL1C
exact
Urban-Rifkin-Davis syndrome
exact
autosomal recessive cutis laxa type 1C
exact
cutis laxa, autosomal recessive, type IC
related