Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001252020.1:c.2394del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613216.1.1 | Saudi Arabia | High myopia; Nystagmus; Optic disc hypoplasia; Abnormal full-field electroretinogram | Male | Yes | Yes | |
| 613216.1.2 | Saudi Arabia | High myopia; Nystagmus; Optic disc hypoplasia; Abnormal full-field electroretinogram | Male | Yes | Yes | Twin brother of 613216.1.1 |
| 613216.1.4 | Saudi Arabia | Female | Yes | Mother of 613216.1.1 |