Search Ontology:
Human Disease
Keipert syndrome
- Term ID
- DOID:0111842
- 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. https://www.ncbi.nlm.nih.gov/pubmed/30982611
- References
-
- GARD:267
- MESH:C538337
- MIM:301026
- Ontology
- Human Disease ( DOID:0111842 )
Other Pages
Genes Involved
Zebrafish Models