OBO ID: DOID:0110992 |
Term Name: | Joubert syndrome 23 | Search Ontology: | |
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Definition: | A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23. https://www.ncbi.nlm.nih.gov/pubmed/26096313 | ||
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Ontology: | Human Disease ( DOID:0110992 ) |
OTHER Joubert syndrome 23 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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