216550.4.2

Syria

Retinal dystrophy; Optic disc pallor; Abnormality of refraction

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease
NM_017890.4:c.6530_6732del	2	NA	Cohen Syndrome

Patient 'B2' in the publication, sister of 216550.6.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Parental Consanguinity	Remarks
216550.4.1	Syria	Retinal dystrophy; Optic disc pallor; Abnormality of refraction	Male	Yes	Patient 'B1' in the publication