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169100.1
Home
Subject Details
Country
Lebanon
HPO Terms
Failure to thrive; Clinodactyly; Patent foramen ovale; Abnormal facial shape
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Sex
Male
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_003221.4:c.650del
1
Char Syndrome
Download Table
Remarks
de novo mutation
References
Massaad et al. 2019
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