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Human Disease

Temtamy syndrome

Term ID
DOID:0111621
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. https://www.ncbi.nlm.nih.gov/pubmed/23453666
References
Ontology
Human Disease   ( DOID:0111621 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models