Female
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 |
|---|---|---|---|---|---|---|
| 610612.3.1 | Lebanon | Congenital nystagmus; Macular atrophy; Reduced visual acuity; Abnormal pupillary function; Hypermetropia; Retinal pigment epithelial mottling | Female | Yes | Yes | Proband. The patient exhibited digito-ocular signs of Franceschetti |
| 610612.3.2 | Lebanon | Reduced visual acuity; Hypermetropia | Female | Yes | Yes | Sister of patient 610612.3.1. |
| 610612.3.3 | Lebanon | Reduced visual acuity; Hypermetropia | Male | Yes | Yes | Brother of patient 610612.3.1. |
| 610612.3.4 | Lebanon | Male | No | Father of patient 610612.3.1. |