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602579.1
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Subject Details
Country
Lebanon
HPO Terms
Chronic diarrhea; Neonatal hypoglycemia; Coma; Congenital hepatic fibrosis; Type I transferrin isoform profile; Delayed gross motor development; Protein-losing enteropathy;
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Sex
Male
Family History
No
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_002435.2:c.305C>T
1
Congenital Disorder of Glycosylation, Type Ib
NM_002435.2:c.413T>C
1
Congenital Disorder of Glycosylation, Type Ib
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Remarks
Compound heterozygous
References
Jaeken et al, 1998
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