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

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Synonyms
Glomerulonephritis with sparse hair and telangiectases; Telangiectatic membranoproliferative glomerulonephritis

Summary

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015). [from OMIM]

Available tests

12 tests are in the database for this condition.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

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

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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