Term Name: autosomal recessive cutis laxa type IID
Synonyms: ARCL2D
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.
Ontology: Human Disease [DOID:0070129]   ( DOID:0070129 )

Relationships
is a type of: autosomal recessive cutis laxa type II classic type