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
Ontology
Human Disease   ( DOID:0111842 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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