Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_199355.4:c.1298C>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615458.2.1 | Saudi Arabia | Hypertension; Obesity; Abnormal renal morphology; Visual impairment; Microcornea; Myopia; Chorioretinal atrophy; Telecanthus | Male | Yes | Yes | |
| 615458.2.2 | Saudi Arabia | Hypertension; Obesity; Visual impairment; Microcornea; Myopia; Chorioretinal atrophy; Telecanthus | Female | Yes | Yes | Sister of 615458.2.1 |
| 615458.2.3 | Saudi Arabia | Male | Father of 615458.2.1 |