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GTR Home > Conditions/Phenotypes > Temtamy syndrome

Temtamy syndrome

Synonyms
Craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation; Dysmorphism, corpus callosum agenesis and colobomas; MENTAL RETARDATION WITH OR WITHOUT CRANIOFACIAL DYSMORPHISM, OCULAR COLOBOMA, OR ABNORMAL CORPUS CALLOSUM
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Temtamy syndrome is a mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus (summary by Akizu et al., 2013). [from OMIM]

Available tests

25 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C10, GRCC10, C12orf57
    Summary: chromosome 12 open reading frame 57

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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