Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000180.4:c.1978C>T | 2 | |||
| NM_000180.4:c.2345T>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 204000.15.1 | Saudi Arabia | Visual impairment; Undetectable electroretinogram; Pendular nystagmus; Slow pupillary light response; Exotropia; Attenuation of retinal blood vessels | Female | Yes | Yes | |
| 204000.15.3 | Saudi Arabia | Visual impairment; Undetectable electroretinogram; Abnormality of retinal pigmentation | Male | Yes | Yes | Brother of 204000.15.1 |