Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_170784.3:c.871G>T | 2 | |||
| NM_176824.3:c.934+32A>G | 1 | |||
| NM_198428.3:c.1111G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 605231.2.2 | Saudi Arabia | Obesity; Intellectual disability; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly; Round face; Ventricular septal defect | Female | Yes | Yes | Sibling of 605231.2.1 "BBS-F019-B" in the publication |