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GTR Home > Conditions/Phenotypes > Hypotaurinemic retinal degeneration and cardiomyopathy

Hypotaurinemic retinal degeneration and cardiomyopathy

Synonyms
Hypertaurinuric cardiomyopathy

Summary

Hypotaurinemic retinal degeneration and cardiomyopathy (HTRDC) is an autosomal recessive disorder characterized by low plasma taurine, childhood-onset progressive retinal degeneration, and cardiomyopathy (Ansar et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: HTRDC, TAUT, SLC6A6
    Summary: solute carrier family 6 member 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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