Human genes for autosomal dominant cutis laxa 3
Autosomal dominant cutis laxa 3 [DOID:0070131]
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.
Synonyms: autosomal dominant cutis laxa 3, DOID:0070131, ADCL3