Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017890.4:c.1225G>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 216550.3.1 | Palestine | Exotropia; Retinal dystrophy; Optic disc pallor; Visual impairment; Abnormality of refraction | Male | Yes | Yes | Patient 'A1' in the publication |
| 216550.3.2 | Palestine | Retinal dystrophy; Esotropia; Bilateral ptosis; Tapered finger; Truncal obesity; Optic disc pallor; Abnormality of refraction | Female | Yes | Yes | Patient 'A2' in the publication, sister of 216550.5.1 |