Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024685.4:c.1889_1893del | 2 | |||
| NM_001165927.1:c.-17C>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615987.4 | Saudi Arabia | Obesity; Rod-cone dystrophy; Polydactyly; Round face | Female | No | Yes | "BBS-F011-A" in the publication |