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

• GARD:5688
• MESH:C536959
• NCI:C148371
• OMIM:218340
• ORDO:1777
• SNOMEDCT_US_2023_03_01:719947004
• UMLS_CUI:C1857512

Ontology

Human Disease   ( DOID:0111621 )