Cutis laxa, autosomal dominant 3
Cutis laxa, autosomal dominant 3
Definition
An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.
Also known as ADCL3, cutis laxa, autosomal dominant 3, cutis laxa, autosomal dominant type 3 — per MONDO