Term Name:	Temtamy syndrome
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 )