Female
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024685.4:c.1365T>G | 2 | |||
| NM_176824.3:c.934+32A>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615987.5 | Saudi Arabia | Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Round face; External genital hypoplasia | Male | No | Yes | "BBS-F023-A" in the publication |