Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_152384.3:c.425T>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615983.2.1 | Saudi Arabia | Abnormality of the kidney; Obesity; Short stature | Male | Yes | Yes | Patient from Family 'KK63' in the publication |
| 615983.2.2 | Saudi Arabia | Abnormality of the kidney; Obesity; Short stature | Male | Yes | Yes | Brother of 615983.2.1 |
| 615983.2.4 | Saudi Arabia | Male | No | Yes | Father of 615983.2.1 | |
| 615983.2.5 | Saudi Arabia | Female | No | Yes | Mother of 615983.2.1 |