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
606777.1
Home
Subject Details
Country
Lebanon
HPO Terms
Global developmental delay; Ataxia; Hypotonia; Generalized myoclonic seizure
Back to search Result
Sex
Unknown
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_006516.4:c.1279-2A>C
1
GLUT1 Deficiency Syndrome 1
Download Table
References
Jalkh et al. 2019
© CAGS 2024. All rights reserved.
