DISEASES

Disease-gene associations mined from literature

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,  DOID:0070133,  autosomal recessive cutis laxa type IBs,  ARCL1B