216550.2.2

Saudi Arabia

Microcephaly; Inferior cerebellar vermis hypoplasia;

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_017890.4:c.1219C>T	2		Cohen Syndrome

Sibling of 216550.2.1 and 216550.2.3

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
216550.2.1	Saudi Arabia	Microcephaly; Retinal dystrophy; Myopia; Abnormal length of corpus callosum; Inferior cerebellar vermis hypoplasia;	Female	Yes	Yes	Sibling of 216550.2.2 and 216550.2.3
216550.2.3	Saudi Arabia	Microcephaly;	Female	Yes	Yes	Sibling of 216550.2.1 and 216550.2.2