|OBO ID: DOID:0111621|
|Term Name:||Temtamy syndrome||Search Ontology:|
|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 C12ORF57 on chromosome 12p13.31. https://www.ncbi.nlm.nih.gov/pubmed/23453666|
|Ontology:||Human Disease (DOID:0111621)|
|is a type of:||
OTHER Temtamy syndrome PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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