OBO ID: DOID:0110993 |
Term Name: | Joubert syndrome 24 | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0110993 ) |
OTHER Joubert syndrome 24 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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