Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024649.5:c.951+58C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 209900.10.1 | Saudi Arabia | Obesity; Intellectual disability; Sectoral retinitis pigmentosa; Polydactyly; Hearing impairment; Abnormal facial shape; Abnormality of the genital system | Male | Yes | Yes |