FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Temtamy syndrome ID (Ontology) DOID:0111621 (Human Disease)
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.
Also Known As "craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation" ; "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome" ; "dysmorphism, corpus callosum agenesis and colobomas" (for all, see Synonyms field below)
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 Genes
 Temtamy syndrome       1
 for disease ribbon | Temtamy syndrome       1
 model of | Temtamy syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Temtamy syndrome  1 rec.
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Is a autosomal recessive disease
syndrome
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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
Secondary IDs
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GARD:5688
MESH:C536959
MIM:218340
NCI:C148371
ORDO:1777
SNOMEDCT_US_2023_03_01:719947004
UMLS_CUI:C1857512