Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_025114.4:c.1860_1863del | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 611134.1 | United Arab Emirates | Global developmental delay; Oculomotor apraxia; Molar tooth sign on MRI; Retinal dystrophy | Female | Yes |