613843.4.2

Saudi Arabia

Undetectable electroretinogram; Attenuation of retinal blood vessels; Optic disc pallor; Hyperopic astigmatism; Pendular nystagmus

Female

Yes

Yes

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

Sister of 613843.4.1 Patient 8 from family KKESH-203 in the publication

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
613843.4.1	Saudi Arabia	Undetectable electroretinogram; Attenuation of retinal blood vessels; Optic disc pallor; Hyperopic astigmatism; Pendular nystagmus	Female	Yes	Yes	Patient 8 from family KKESH-203 in the publication