Term Name: | Keipert syndrome |
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Synonyms: | KPTS, nasodigitoacoustic syndrome |
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. |
Ontology: | Human Disease [DOID:0111842] ( DOID:0111842 ) |