cutis laxa, autosomal recessive, type 1A
An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.
MONDO:0019572
autosomal recessive cutis laxa type 1
is_a
ARCL1
broad
ARCL1A
exact
cutis laxa, autosomal recessive, type IA
related