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216550.6.3
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Subject Details
Country
Lebanon
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Sex
Female
Subject Variants
Variant Name
Allele Count
NM_152564.4:c.11251del
1
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Remarks
Mother of 216550.6.1
References
Prokudin et al. 2015
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
216550.6.1
Lebanon
Intellectual disability; Pigmentary retinopathy; Conductive hearing impairment; Brachydactyly; Childhood-onset truncal obesity
Male
Yes
Yes
216550.6.2
Lebanon
Intellectual disability; Pigmentary retinopathy; Conductive hearing impairment; Brachydactyly
Female
Yes
Yes
Sibling of 216550.6.1
216550.6.4
Lebanon
Male
Father of 216550.6.1
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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