Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014714.4:c.1990G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617781.10.1 | Saudi Arabia | Visual impairment; Nystagmus; Global developmental delay; Cone-shaped epiphyses of the phalanges of the hand; Short finger; | Male | Yes | Yes | Relative of 617781.10.2 |