611567.1.1

Saudi Arabia

Cortical cataract; Juvenile onset

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_003571.3:c.598_599dup	2		Cataract 12, Multiple Types

First report of recessive transmission of CTRCT12. Has two affected sisters, genotyped. One affected cousin by history, not genotyped.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
611567.1.2	Saudi Arabia	Cortical cataract; Juvenile onset;	Female	Yes	Yes	Sister of 611567.1.1
611567.1.3	Saudi Arabia	Cortical cataract; Juvenile onset;	Female	Yes	Yes	Sister of 611567.1.1
611567.1.4	Saudi Arabia	Unaffected;	Female			Mother of 611567.1.1, 611567.1.2, and 611567.1.3
611567.1.5	Saudi Arabia	Cataract; Adult onset;	Male	Yes		Father of 611567.1.1, 611567.1.2, and 611567.1.3