Human genes for autosomal recessive cutis laxa type IB
Autosomal recessive cutis laxa type IB [DOID:0070133]
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.
Synonyms: autosomal recessive cutis laxa type IB, autosomal recessive cutis laxa type IBs, DOID:0070133, ARCL1B