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
259700.1
Home
Subject Details
Country
Lebanon
HPO Terms
Hepatosplenomegaly; Increased bone mineral density; Sclerosis of skull base; Frontal cortical atrophy; Temporal cortical atrophy; Hypochromic anemia; Pancytopenia
Back to search Result
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_006019.3:c.702del
2
0.12
Osteopetrosis, Autosomal Recessive 1
Download Table
References
Souraty et al. 2007
© CAGS 2024. All rights reserved.