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GTR Home > Conditions/Phenotypes > Trichothiodystrophy 8, nonphotosensitive

Trichothiodystrophy 8, nonphotosensitive

Summary

Nonphotosensitive trichothiodystrophy-8 (TTD8) is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay. Hair analysis shows low sulfur content, and skin fibroblasts demonstrate normal DNA repair efficiency after UV irradiation (Botta et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of trichothiodystrophy, see TTD1 (601675). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AARS, CMT2N, DEE29, EIEE29, HDLS2, TTD8, AARS1
    Summary: alanyl-tRNA synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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