Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_198428.3:c.(443-1675_443-1116)_(618-986_618-508)del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615986.2.1 | Saudi Arabia | Rod-cone dystrophy | Female | Yes | Yes | "BBS-F015-A" in the publication |
| 615986.2.2 | Saudi Arabia | Obesity; Intellectual disability; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly | Female | Yes | Yes | Sibling of 615986.2.1 "BBS-F015-B" in the publication |