autosomal recessive cutis laxa type IID (DOID:0070129)
Alliance: disease page
Synonyms: ARCL2D
Alt IDs: OMIM:617403, ICD10CM:Q82.8
Definition: An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13.