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
610828.1
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Macrocephaly; Global developmental delay; Hypotonia
Back to search Result
Sex
Male
Family History
No
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000264.3:c.518_521dup
1
Holoprosencephaly 7
Download Table
Remarks
de novo mutation
References
Saleh et al. 2021
© CAGS 2024. All rights reserved.
