OBO ID: DOID:0060376
Term Name: Joubert syndrome with orofaciodigital defect Search Ontology:
Synonyms:
  • OFD6
  • orofaciodigital syndrome VI
  • Polydactyly cleft lip palate psychomotor retardation
  • Varadi syndrome
  • Varadi-Papp syndrome
Definition: A Joubert syndrome that is characterized by orofaciodigital defect. https://www.ncbi.nlm.nih.gov/pubmed/23716954
References:
Ontology: Human Disease   ( DOID:0060376 )
OTHER Joubert syndrome with orofaciodigital defect PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CPLANE1 Orofaciodigital syndrome VI 277170
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None