Term Name: | Temtamy syndrome |
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Synonyms: | craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation, craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome, dysmorphism, corpus callosum agenesis and colobomas, Temtamy-Shalash syndrome |
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. |
Ontology: | Human Disease [DOID:0111621] ( DOID:0111621 ) |