Term Name: Keipert syndrome
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 )

Relationships
is a type of: syndrome X-linked recessive disease