Deafness, Autosomal Recessive 18A

Alternative Names

  • DFNB18A
  • Deafness, Autosomal Recessive 18
  • DFNB18

Associated Genes

USH1C Gene
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WHO-ICD-10 version:2010

Diseases of the ear and mastoid process

Other disorders of ear

OMIM Number

602092

Mode of Inheritance

Autosomal recessive

Gene Map Locus

11p15.1

Description

DFNB18A is associated with homozygous mutation in USH1C gene. Mutations in the same gene is also linked with Usher syndrome type 1C.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
602092.1United Arab EmiratesUnknown Hearing impairmentNM_153676.4:c.1597G>AHeterozygousTlili et al. 2024
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