Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017777.4:c.515+1G>A | 1 | |||
| NM_024649.5:c.124+1G>A | 1 | |||
| NM_176824.3:c.934+32A>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 209900.8.1 | Saudi Arabia | Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Round face | Male | Yes | Yes | "BBS-F021-A" in the publication |