Hearing loss, X-linked 1

Synonyms: DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL; DFNX1 Nonsyndromic Hearing Loss and Deafness; Deafness, X-linked 1

Summary

DFNX1 nonsyndromic hearing loss and deafness is part of the spectrum of PRPS1-related disorders. Hearing loss in hemizygous males is bilateral, sensorineural, and moderate to profound; prelingual or postlingual in onset; and progressive or non-progressive. The audiogram shape is variable. Hearing in female carriers can be normal or abnormal. [from GeneReviews]

Available tests

32 tests are in the database for this condition.

Clinical tests (32 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

PRPS1
184 tests
Also known as: ARTS, CMTX5, DFN2, DFNX1, PPRibP, PRS-I, PRSI, PRPS1
Summary: phosphoribosyl pyrophosphate synthetase 1

Imported from Human Phenotype Ontology (HPO)

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Ear malformation
- Sensorineural hearing loss disorder
  Sensorineural hearing loss disorder
  - MedGen UID: 9164
  - Concept ID: C0018784
  - Finding: Disease or Syndrome
  Ear malformation
  See: Feature record | Search on this feature

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Molecular resources

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