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GTR Home > Conditions/Phenotypes > Temple-Baraitser syndrome

Temple-Baraitser syndrome

Synonyms
Severe mental retardation and absent nails of hallux and pollex
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Temple-Baraitser syndrome is a rare developmental disorder characterized by severe mental retardation and anomalies of the first ray of the upper and lower limbs with absence/hypoplasia of the nails. Most patients also have seizures; various dysmorphic facial features have been reported (summary by Jacquinet et al., 2010). [from OMIM]

Available tests

16 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EAG, EAG1, K(V)10.1, Kv10.1, TMBTS, ZLS1, h-eag, hEAG, hEAG1, KCNH1
    Summary: potassium voltage-gated channel subfamily H member 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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