Usher Syndrome, Type IF

Alternative Names

  • USH1F

Associated Genes

Protocadherin 15
Back to search Result
WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

602083

Mode of Inheritance

Autosomal recessive

Gene Map Locus

10q21.1

Description

Usher syndrome constitutes a group of autosomal recessive disorders characterized by progressive pigmentary retinopathy and sensorineural hearing loss. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
602083.G.1Saudi ArabiaUnknownYesYes Visual impairment; Hearing impairmentNM_033056.4:c.3717+1G>AHomozygousAutosomal, RecessivePatel et al, 2018 2 members of a famil...
© CAGS 2024. All rights reserved.