6613835.3.1

Lebanon

Bull's eye maculopathy; Congenital blindness;

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_201253.2:c.1345C>T	2		Leber Congenital Amaurosis 8

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
6613835.3.2	Lebanon		Female			Mother of 6613835.3.1
6613835.3.3	Lebanon		Male			Father of 6613835.3.1