216550.1.2

Oman

Microcephaly; Global developmental delay; Myopia; Retinopathy; Narrow foot; Narrow palm; Joint hypermobility;

Male

Yes

Yes

Variant Name	Allele Count	Associated Disease
NM_017890.4:c.7934G>A	2	Cohen Syndrome

Sibling of 216550.1.1 and 216550.1.3

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
216550.1.1	Oman	Microcephaly; Global developmental delay; Myopia; Retinopathy; Narrow foot; Narrow palm; Joint hypermobility;	Female	Yes	Yes	Sibling of 216550.1.2 and 216550.1.3
216550.1.3	Oman	Microcephaly; Global developmental delay; Myopia; Retinopathy; Narrow foot; Narrow palm; Joint hypermobility;	Male	Yes	Yes	Sibling of 216550.1.1 and 216550.1.2