OBO ID: DOID:0110984
Term Name: Joubert syndrome 15 Search Ontology:
Synonyms:
  • JBTS15
Definition: A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32. https://www.ncbi.nlm.nih.gov/pubmed/22246503
References:
Ontology: Human Disease   ( DOID:0110984 )
Relationships
is a type of:
OTHER Joubert syndrome 15 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CEP41 Joubert syndrome 15 614464
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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