DISEASES

Disease-gene associations mined from literature

Human genes for autosomal recessive cutis laxa type IA

Autosomal recessive cutis laxa type IA [DOID:0070135]

An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.

Synonyms:  autosomal recessive cutis laxa type IA,  DOID:0070135,  autosomal recessive cutis laxa type IAs,  ARCL1A