Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_170784.3:c.1646T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 605231.4.2 | Saudi Arabia | Obesity; Intellectual disability; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape; Chronic kidney disease; Atrial septal defect; Abnormality of the genital system | Male | Yes | Yes | Sibling of 605231.4.1 |
| 605231.4.3 | Saudi Arabia | Obesity; Intellectual disability; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape; Chronic kidney disease; Abnormality of the genital system; Patent ductus arteriosus | Male | Yes | Yes | Sibling of 605231.4.1 |