Version: 8.0.0
Date: Tue Jan 28 2025
Temtamy syndrome
DOID:0111621
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation
  • craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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