Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_031885.4:c.416G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615981.1.1 | Lebanon | Rod-cone dystrophy; Increased body mass index; Hand polydactyly; Foot polydactyly; Cognitive impairment | Female | Yes | Yes | She belongs to the same large consanguineous family as 615987.1.01 |