Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017777.4:c.515+12C>T | 1 | |||
| NM_024649.5:c.1110+329C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 209900.3.2 | Saudi Arabia | Obesity; Intellectual disability; Rod-cone dystrophy; Brachydactyly; Round face; External genital hypoplasia | Male | Yes | Yes | Sibling of 209900.3.1 "BBS-F006-B" in the publication |