Unknown
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_152384.3:c.952GAA[1] | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615983.3 | Saudi Arabia | Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Round face; External genital hypoplasia | Male | No | Yes | "BBS-F030-A" in the publication |