608716.2.2

United Arab Emirates

Microcephaly;

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_018136.5:c.3067T>G	2		Microcephaly 5, Primary, Autosomal Recessive

Sibling of 608716.2.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
608716.2.1	United Arab Emirates	Microcephaly; Posterior vitreous detachment; Retinal detachment		Yes	Yes