Male
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_183059.2:c.112C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610612.1.1 | Morocco | Congenital nystagmus; Reduced visual acuity; Abnormal pupillary function; Impaired smooth pursuit; Hypermetropia; Abnormality of macular pigmentation | Female | No | Yes | No affected relatives. |
| 610612.1.2 | Morocco | Female | No | Mother of patient 610612.1.1 |