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GTR Home > Conditions/Phenotypes > Trichothiodystrophy 5, nonphotosensitive

Trichothiodystrophy 5, nonphotosensitive

Summary

Trichothiodystrophy-5 (TTD5) is an X-linked disorder characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities (summary by Mendelsohn et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of trichothiodystrophy, see TTD1 (601675). [from OMIM]

Available tests

13 tests are in the database for this condition.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: Cwc24, RNF113, TTD5, ZNF183, RNF113A
    Summary: ring finger protein 113A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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