252920.G.1

United Arab Emirates

Hepatosplenomegaly; Coarse facial features; Hyperactivity; Aggressive behavior

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000263.4:c.1694G>T	8		Mucopolysaccharidosis Type IIIB

3 blood relatives from one Emirati tribe and an unrelated patient from a different Emirati tribe

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
252920.G.2	United Arab Emirates	Hepatosplenomegaly; Macroglossia; Gingival overgrowth; Depressed nasal bridge		Yes	Yes	Four related patients