OBO ID: DOID:0110993
Term Name: Joubert syndrome 24 Search Ontology:
Synonyms:
  • JBTS24
Definition: A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24. (2)
References:
Ontology: Human Disease   ( DOID:0110993 )
OTHER Joubert syndrome 24 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TCTN2 Joubert syndrome 24 616654
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None