613835.2.1

Saudi Arabia

Deeply set eye ; Nystagmus ; Optic atrophy ; Macular atrophy ; Pigmentary retinopathy

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_201253.3:c.2024G>A	2		Leber Congenital Amaurosis 8

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
613835.2.2	Saudi Arabia	Deeply set eye ; Nystagmus ; Macular degeneration ; Undetectable electroretinogram	Male	Yes	No	Brother of 613835.2.1