Term Name: | autosomal dominant cutis laxa 3 |
---|---|
Synonyms: | ADCL3 |
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. |
Ontology: | Human Disease [DOID:0070131] ( DOID:0070131 ) |