Cutis laxa, autosomal dominant 3

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, autosomal dominant cutis laxa 3

0 clinical trials for this condition and its sub-types.