DISEASES

Disease-gene associations mined from literature

Human genes for autosomal recessive cutis laxa type IIA

Autosomal recessive cutis laxa type IIA [DOID:0070134]

An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.

Synonyms:  autosomal recessive cutis laxa type IIA,  DOID:0070134,  autosomal recessive cutis laxa type IIAs,  ARCL2A