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Up to: Developmental anomaly of metabolic origin · P5CS deficiency · Autosomal dominant cutis laxa
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.
This condition has no sub-types.