Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003322.6:c.901C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613843.6.1 | Saudi Arabia | Rotary nystagmus; Attenuation of retinal blood vessels; Bone spicule pigmentation of the retina; Hypermetropia; Slow pupillary light response; Vitreous floaters | Yes | Yes | Patient 4 from family KKESH-215 in the publication |