Keipert syndrome (DOID:0111842)
Alliance: disease page
Synonyms: KPTS; nasodigitoacoustic syndrome
Alt IDs: OMIM:301026, MESH:C538337, NCI:C186306, ORDO:2662, UMLS_CUI:C1850627
Definition: A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2.