Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_020184.3:c.707G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 217080.1.1 | Lebanon | Pendular nystagmus; Photophobia; Nyctalopia; Visual impairment; Amelogenesis Imperfecta | Female | Yes | Yes | Proband from 'Family B' in the publication |
| 217080.1.3 | Lebanon | Male | No | Yes | Father of 217080.1.1 | |
| 217080.1.4 | Lebanon | Female | No | Yes | Mother of 217080.1.1 | |
| 217080.1.5 | Lebanon | Pendular nystagmus; Photophobia; Nyctalopia; Visual impairment; Amelogenesis Imperfecta | Male | Yes | Yes | Maternal cousin of 217080.1.1 |
| 217080.1.6 | Lebanon | Male | No | Yes | Maternal uncle of 217080.1.1, father of 217080.1.5 | |
| 217080.1.7 | Lebanon | Female | No | Yes | Maternal aunt of 217080.1.1, mother of 217080.1.5 |