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Temtamy syndrome
Summary
- Synonym
-
- Temtamy-Shalash syndrome
- craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation
- craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome
- dysmorphism, corpus callosum agenesis and colobomas
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111621
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
