613826.3.1

Saudi Arabia

Reduced visual acuity; Global developmental delay;

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_020366.3:c.1107del	2		Leber Congenital Amaurosis 6

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
613826.3.2	Saudi Arabia	Reduced visual acuity	Male	Yes	Yes	Brother of 613826.3.1