العربية
About Us
News
Fellowships
العربية
Home
About Us
CTGA Database
CTGA Overview
Search Database
Submit to Database
Publications
Research Articles
Genetics Made Easy
Genetic Disorders in the Arab World
Reports
Conferences & Events
News
Gallery
Fellowships
Contact Us
276900.3
Home
Subject Details
Country
Jordan
HPO Terms
Progressive visual loss; Bilateral sensorineural hearing impairment
Back to search Result
Sex
Female
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000260.3:c.462C>A
2
Usher Syndrome Type I
Download Table
Remarks
The patient had a similarly affected sister as well as 6 affected relatives.
References
Reddy et al. 2014
© CAGS 2024. All rights reserved.