212066.2.3

Country

Saudi Arabia

HPO Terms

Intellectual disability, severe; Global developmental delay; Self-mutilation; Short stature; Microcephaly; Low hanging columella; Malar flattening; Abnormality of upper lip vermillion; Open mouth; Abnormal facial shape; Neonatal respiratory distress; Psoriasiform lesion; Hypertonia

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Sex

Female

Family History

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_002408.3:c.711G>C	2		Congenital Disorder Of Glycosylation, Type IIa

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Remarks

Niece of 212066.2.2

References

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
212066.2.1	Saudi Arabia	Intellectual disability, severe; Global developmental delay; Patent ductus arteriosus; Self-mutilation; Short stature; Microcephaly; Low hanging columella; Malar flattening; Abnormality of upper lip vermillion; Open mouth; Abnormal facial shape	Male	Yes	Yes	Similarly affected brother and sister were institutionalized
212066.2.2	Saudi Arabia	Intellectual disability, severe; Global developmental delay; Self-mutilation; Short stature; Low hanging columella; Malar flattening; Abnormality of upper lip vermillion; Open mouth; Abnormal facial shape	Female	Yes		First cousin of 212066.2.1. Similarly affected brother was institutionalized