Unknown
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_152384.3:c.214G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615983.1.1 | Somalia | Retinal dystrophy; Polydactyly; Obesity; Cognitive impairment; Abnormality of the kidney | Unknown | Yes | No | Patient from Family '1' in the publication |
| 615983.1.2 | Somalia | Retinal dystrophy; Polydactyly; Obesity; Cognitive impairment; Abnormality of the kidney | Unknown | Yes | No | Sibling of 615983.1.1 |
| 615983.1.4 | Somalia | Retinal dystrophy; Polydactyly; Obesity; Cognitive impairment; Abnormality of the kidney | Unknown | Yes | No | Sibling of 615983.1.1 |
| 615983.1.5 | Somalia | Male | No | No | Unaffected father of 615983.1.1 | |
| 615983.1.6 | Somalia | Female | No | No | Unaffected mother of 615983.1.1 |