OBO ID: DOID:0111842
Term Name: Keipert syndrome Search Ontology:
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 Keipert syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GPC4 Keipert syndrome 301026
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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