OBO ID: DOID:0111621
Term Name: Temtamy syndrome Search Ontology:
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 C12ORF57 on chromosome 12p13.31. https://www.ncbi.nlm.nih.gov/pubmed/23453666
References:
Ontology: Human Disease   (DOID:0111621)
OTHER Temtamy syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
C12orf57 Temtamy syndrome 218340
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None