Deafness, Autosomal Recessive 117

Alternative Names

  • DFNB117

Associated Genes

Clarin 2
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WHO-ICD-10 version:2010

Diseases of the ear and mastoid process

Other disorders of ear

OMIM Number

619174

Mode of Inheritance

Autosomal recessive

Gene Map Locus

4p15.32

Description

Autosomal recessive deafness-117 (DFNB117) is characterized by nonsyndromic bilateral moderate-to-profound sensorineural deafness, with onset in early childhood. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
619174.G.1United Arab Emirates Hearing impairmentNM_001079827.2:c.494C>AAutosomal, RecessiveVona et al. 2021 Unknown number of pa...
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