Deafness, Autosomal Recessive 29

Alternative Names

  • DFNB29

Associated Genes

Claudin 14
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WHO-ICD-10 version:2010

Diseases of the ear and mastoid process

Other disorders of ear

OMIM Number

614035

Mode of Inheritance

Autosomal recessive

Gene Map Locus

21q22.13

Description

Autosomal recessive nonsyndromic deafness-29 (DFNB29) is caused by homozygous mutation in the CLDN14 gene on chromosome 21q22. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
614035.1United Arab EmiratesUnknown Congenital sensorineural hearing impairm...NM_001146079.2:c.278T>GHomozygousAutosomal, RecessiveElsayed O and Al-Shamsi A. 2022 Autosomal recessive
614035.2.1YemenFemaleYesYes Hearing impairmentNM_001146079.2:c.414G>AHomozygousAutosomal, RecessiveMohamed et al. 2019 Proband from "family...
614035.2.2YemenFemaleYesYes Hearing impairmentNM_001146079.2:c.414G>AHomozygousAutosomal, RecessiveMohamed et al. 2019 Sister of 614035.2.1...
614035.3.1YemenFemaleYesYes Hearing impairmentNM_001146079.2:c.414G>AHomozygousAutosomal, RecessiveMohamed et al. 2019 Proband from "family...
614035.4.1YemenFemaleYesYes Hearing impairmentNM_001146079.2:c.414G>AHomozygousAutosomal, RecessiveMohamed et al. 2019 Proband from "family...
614035.4.2YemenFemaleYesYes Hearing impairmentNM_001146079.2:c.414G>AHomozygousAutosomal, RecessiveMohamed et al. 2019 Sister of 614035.4.1
614035.3.GYemenFemaleYesYes Hearing impairmentNM_001146079.2:c.414G>AHomozygousAutosomal, RecessiveMohamed et al. 2019 Two affected sisters...
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