Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024649.5:c.951+58C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 209900.5.2 | Saudi Arabia | Rod-cone dystrophy; Polydactyly; Round face | Female | Yes | Yes | Sibling of 209900.5.1 "BBS-F010-B" in the publication |
| 209900.5.3 | Saudi Arabia | Rod-cone dystrophy; Polydactyly; Round face; Hearing impairment | Female | Yes | Yes | Sibling of 209900.5.1 "BBS-F010-C" in the publication |