Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_183059.2:c.112C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610612.2.1 | Morocco | Congenital nystagmus; Reduced visual acuity; Abnormal pupillary function; Hypermetropia; Visual acuity light perception without projection; Keratoconus | Female | Yes | Yes | Proband. |
| 610612.2.3 | Morocco | Female | No | Mother of patient 610612.2.1 | ||
| 610612.2.4 | Morocco | Male | No | Father of patient 610612.2.1 |