Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000329.2:c.271C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 204100.10.2 | Saudi Arabia | Deeply set eye; Slow pupillary light response; Nystagmus; Undetectable electroretinogram | Male | Yes | Yes | Brother of 204100.10.1 |
| 204100.10.3 | Saudi Arabia | Deeply set eye; Nystagmus; Astigmatism; Undetectable electroretinogram | Female | Yes | Yes | Sister of 204100.10.1 |