autosomal recessive cutis laxa type 2A

Findings

No curated finding names autosomal recessive cutis laxa type 2A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• autosomal recessive cutis laxa type 2
• hereditary skin disorder
• osteogenesis imperfecta and a reduction of bone mineral density.

Narrower terms (1)

• wrinkly skin syndrome

Resolves to: autosomal recessive cutis laxa type 2A

Also called

ARCL2Acutis laxa with bone dystrophycutis laxa with congenital disorder of glycosylationcutis laxa with growth and developmental delaycutis laxa with Joint laxity and retarded developmentcutis laxa, autosomal recessive type 2Acutis laxa, autosomal recessive, type 2Acutis laxa, autosomal recessive, type IIAcutis laxa, debre type