Deafness, Autosomal Recessive 79

Alternative Names

  • DFNB79

Associated Genes

Taperin
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WHO-ICD-10 version:2010

Diseases of the ear and mastoid process

Other disorders of ear

OMIM Number

613307

Mode of Inheritance

Autosomal recessive

Gene Map Locus

9q34.3

Description

DFNB79 is associated with homozygous mutation in the TPRN gene. It is characterised by prelingual sensorineural hearing loss and speech delay.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
613307.1United Arab EmiratesUnknown Hearing impairmentNM_001128228.3:c.117delHeterozygousTlili et al. 2024
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