613581.4.1

Country

United Arab Emirates

HPO Terms

Reduced visual acuity; Esotropia; Peripapillary atrophy; Optic disc pallor; Attenuation of retinal blood vessels; Retinal pigment epithelial mottling; Hyperautofluorescent retinal lesion

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_016247.4:c.533+4_533+7del	2		Retinitis Pigmentosa 56

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References

Khan et al. 2019

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
613581.4.2	United Arab Emirates	Reduced visual acuity; Increased OCT-measured macular thickness	Male	Yes	Yes	Father of 613581.4.1