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
610217.1
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Developmental regression; Hypertonia; Failure to thrive; Scoliosis; Abnormality of the skin
Back to search Result
Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_004035.7:c.1165A>G
2
NM_014363.6:c.2143C>A
1
NM_014363.6:c.5732C>A
1
Download Table
Remarks
Reported with a variant in PLA2G6: UC003aux.1:c.154G>A (p.V52M). Could not be identified with HGVS. Cousin has spina bifida and hydrocephalus.
References
Al-Shamsi et al. 2016
© CAGS 2024. All rights reserved.