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
204100.4
Home
Subject Details
Country
Saudi Arabia
HPO Terms
Retinal dystrophy
Back to search Result
Sex
Unknown
Family History
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000329.2:c.271C>T
2
Leber Congenital Amaurosis 2
Download Table
References
Patel et al. 2016
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
204100.3
Saudi Arabia
Retinal dystrophy; Global developmental delay; Abnormal facial shape
Male
No
Yes
204100.9
Saudi Arabia
Visual impairment; Nystagmus; Eye poking
Male
No
Yes
Back to search Result
© CAGS 2024. All rights reserved.
