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610915.1
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Subject Details
Country
Lebanon
HPO Terms
Bone fracture; Rickets; Respiratory failure; Neonatal death
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Subject Variants
Variant Name
Allele Count
Associated Disease
NM_001146289.1:c.1365_1366delinsC
2
Osteogenesis Imperfecta, Type VIII
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References
Willaert et al. 2009
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
610915.3
Lebanon
Recurrent fractures; Dentinogenesis imperfecta
Male
Yes
610915.4
Lebanon
Multiple prenatal fractures; Brachycephaly; Triangular face; Wormian bones; Osteopenia
Female
Yes
610915.6
Lebanon
Recurrent infections
Male
Yes
Yes
610915.7
Lebanon
Osteopenia; Pulmonary hypoplasia; Recurrent fractures
Male
Yes
Yes
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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
