| Metadata | |
|---|---|
| ID | DOID:0111621 |
| Name | Temtamy 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. https://www.ncbi.nlm.nih.gov/pubmed/23453666 |
| Xrefs |
SNOMEDCT_US_2023_03_01:719947004 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation [EXACT] craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome [EXACT] dysmorphism, corpus callosum agenesis and colobomas [EXACT] Temtamy-Shalash syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |