cutis laxa, autosomal recessive, type 1B
An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.
MONDO:0019572
autosomal recessive cutis laxa type 1
is_a
ARCL1B
exact
cutis laxa, autosomal recessive, type IB
related