OBO ID: DOID:0111621 |
Term Name: | Temtamy syndrome | Search Ontology: | |
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Definition: | A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31. https://www.ncbi.nlm.nih.gov/pubmed/23453666 | ||
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Ontology: | Human Disease ( DOID:0111621 ) |
OTHER Temtamy syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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