216550.3.1

Palestine

Exotropia; Retinal dystrophy; Optic disc pallor; Visual impairment; Abnormality of refraction

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease
NM_017890.4:c.1225G>T	2	NA	Cohen Syndrome

Patient 'A1' in the publication

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
216550.3.2	Palestine	Retinal dystrophy; Esotropia; Bilateral ptosis; Tapered finger; Truncal obesity; Optic disc pallor; Abnormality of refraction	Female	Yes	Yes	Patient 'A2' in the publication, sister of 216550.5.1
216550.3.3	Palestine	Retinal dystrophy; Bilateral ptosis; Optic disc pallor; Abnormality of refraction	Female	Yes	Yes	Patient 'A3' in the publication, sister of 216550.5.1