Male
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 |
|---|---|---|---|---|---|---|
| 614465.2.1 | United Arab Emirates | Oculomotor apraxia; Chorioretinal coloboma; Renal cyst | Female | Yes | Yes | |
| 614465.2.2 | United Arab Emirates | Polydactyly | Male | Yes | Yes | Sibling of 614465.2.1 |