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 )

Relationships
is a type of: autosomal dominant cutis laxa