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GTR Home > Conditions/Phenotypes > Hypotrichosis-lymphedema-telangiectasia syndrome

Hypotrichosis-lymphedema-telangiectasia syndrome

Summary

Hypotrichosis-lymphedema-telangiectasia syndrome is an autosomal recessive disorder characterized by these 3 features, which begin at birth or in early childhood and are progressive (summary by Irrthum et al., 2003). [from OMIM]

Available tests

21 tests are in the database for this condition.

Clinical tests (20 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: HLTRS, HLTS, SOX18
    Summary: SRY-box transcription factor 18

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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