613835.1.2

Lebanon

Visual impairment ; Exotropia ; Pendular nystagmus ; Cataract ; Attenuation of retinal blood vessels

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_201253.2:c.1772_1775del	1		Leber Congenital Amaurosis 8
NM_201253.2:c.2234C>T	1		Leber Congenital Amaurosis 8

Paternal aunt of 600105.1.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
613835.1.1	Lebanon	Visual impairment ; Nystagmus ; Cataract ; Corneal scarring	Male	Yes	No	Father of 600105.1.1
613835.1.3	Lebanon	Visual impairment	Male	Yes	No	Paternal uncle of 600105.1.1
613835.1.4	Lebanon	Visual impairment	Male	Yes	No	Paternal uncle of 600105.1.1