autosomal dominant cutis laxa 3 (DOID:0070131)
Alliance: disease page
Synonyms: ADCL3
Alt IDs: OMIM:616603, ICD10CM:Q82.8
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.