Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003571.3:c.598_599dup | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 611567.1.1 | Saudi Arabia | Cortical cataract; Juvenile onset | Female | Yes | Yes | First report of recessive transmission of CTRCT12. Has two affected sisters, genotyped. One affected cousin by history, not genotyped. |
| 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 |