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GTR Home > Conditions/Phenotypes > Lichtenstein-Knorr syndrome

Lichtenstein-Knorr syndrome

Synonyms
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 19
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Lichtenstein-Knorr syndrome is an autosomal recessive neurologic disorder characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia. Features usually develop in childhood or young adulthood (summary by Guissart et al., 2015). Some patients with SLC9A1 mutations may not have deafness (Iwama et al., 2018) [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: APNH, LIKNS, NHE-1, NHE1, PPP1R143, SLC9A1
    Summary: solute carrier family 9 member A1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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