Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_016464.5:c.128+5G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614465.1.1 | United Arab Emirates | Oculomotor apraxia; Chorioretinal coloboma; | Female | Yes | Yes |