OBO ID: DOID:0110994
Term Name: Joubert syndrome 25 Search Ontology:
Synonyms:
  • JBTS25
Definition: A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36. https://www.ncbi.nlm.nih.gov/pubmed/26477546
References:
Ontology: Human Disease   ( DOID:0110994 )
Relationships
is a type of:
OTHER Joubert syndrome 25 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CEP104 Joubert syndrome 25 616781
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.