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614576.2
Home
Subject Details
Country
Saudi Arabia
HPO Terms
Failure to thrive; Global developmental delay; Hiatus hernia; Congenital diaphragmatic hernia; Pulmonary hypoplasia; Abnormal gastrointestinal motility; Intestinal obstruction
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_020751.3:c.1167-24A>G
2
Congenital Disorder of Glycosylation, Type IIL
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References
Monies et al. 2017
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
614576.1
Saudi Arabia
Unknown
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