613843.6.1

Country

Saudi Arabia

HPO Terms

Rotary nystagmus; Attenuation of retinal blood vessels; Bone spicule pigmentation of the retina; Hypermetropia; Slow pupillary light response; Vitreous floaters

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Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_003322.6:c.901C>T	2		Leber Congenital Amaurosis 15

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Remarks

Patient 4 from family KKESH-215 in the publication

References

Li et al. 2009

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
613843.6.2	Saudi Arabia	Rotary nystagmus		Yes	Yes	Relative of 613843.6.1 Patient 7 from family KKESH-215 in the publication