212066.1.1

Lebanon

Intellectual disability; Abnormal facial shape; Failure to thrive; Microcephaly; Decreased sialylated N-glycan level

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_002408.3:c.693del	2		Congenital Disorder Of Glycosylation, Type IIa

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
212066.1.2	Lebanon		Female			Mother of 212066.1.1
212066.1.3	Lebanon		Male			Father of 212066.1.1