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Keipert syndrome
Summary
- Synonym
-
- 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.
- Super Class
- X-linked recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111842
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
