180246.1.1

Syria

Intellectual disability, severe; Short stature; Microcephaly

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_021976.5:c.1091C>T	2

Authors classified this gene variant as a "confident" novel candidate for neurodevelopmental disorders.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
180246.1.2	Syria	Intellectual disability, severe; Short stature; Microcephaly	Female	Yes	Yes	Relative of 180246.1.1