Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000180.4:c.2563C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601777.1.2 | Jordan | Abnormal visual fixation; Hypermetropia; Optic disc pallor; Cone dystrophy | Female | Yes | Yes | Sister of 601777.1.1 |