212065.1

Lebanon

Abnormal glycosylation; Pericardial effusion; Failure to thrive; Neurodevelopmental delay; Cerebral atrophy

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000303.3:c.385G>A	1		Congenital Disorder of Glycosylation, Type Ia
NM_000303.3:c.422G>A	1		Congenital Disorder of Glycosylation, Type Ia