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GTR Home > Conditions/Phenotypes > Isolated hyperchlorhidrosis

Isolated hyperchlorhidrosis

Summary

Isolated hyperchlorhidrosis (HYCHL) is an autosomal recessive condition in which excessive salt wasting in sweat can result in severe infantile hyponatremic dehydration and hyperkalemia (summary by Muhammad et al., 2011). [from OMIM]

Available tests

7 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CA-XII, CAXII, HsT18816, T18816, CA12
    Summary: carbonic anhydrase 12

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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