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610915.4
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Subject Details
Country
Arab
HPO Terms
Multiple prenatal fractures; Brachycephaly; Triangular face; Wormian bones; Osteopenia
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Sex
Female
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
NM_022356.4:c.1839-2A>C
2
NA
Osteogenesis Imperfecta, Type VIII
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References
Maddirevula et al. 2018
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
610915.1
Arab
Bone fracture; Rickets; Respiratory failure; Neonatal death
610915.3
Arab
Recurrent fractures; Dentinogenesis imperfecta
Male
Yes
610915.6
Arab
Recurrent infections
Male
Yes
Yes
610915.7
Arab
Osteopenia; Pulmonary hypoplasia; Recurrent fractures
Male
Yes
Yes
Back to search Result
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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
