OBO ID: DOID:0110986 |
Term Name: | Joubert syndrome 17 | Search Ontology: | |
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Definition: | A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13. https://www.ncbi.nlm.nih.gov/pubmed/26092869 | ||
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Ontology: | Human Disease ( DOID:0110986 ) |
OTHER Joubert syndrome 17 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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