Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_152618.3:c.959T>A | 2 | |||
| NM_198428.3:c.1546C>A | 1 | |||
| NM_144596.4:c.1347+21A>G | 1 | |||
| NM_031885.5:c.612+108T>C | 1 | |||
| NM_176824.3:c.529-99T>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615989.2.2 | United Arab Emirates | Obesity; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly; Hydrometrocolpos | Female | Yes | Yes | Sibling of 615989.2.1 "BBS-F027-B" in the publication |