Temtamy syndrome (DOID:0111621)
Alliance: disease page
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
Alt IDs: OMIM:218340, MESH:C536959, NCI:C148371, ORDO:1777, UMLS_CUI:C1857512
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.