Female
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001384732.1:c.8140C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614615.2 | Saudi Arabia | Hypotonia; Global developmental delay; Abnormal facial shape; Strabismus; Oculomotor apraxia; Facial palsy | Female | Yes | Yes | |
| 614615.3 | Saudi Arabia | Hypotonia; Global developmental delay; Abnormal facial shape; Strabismus; Oculomotor apraxia; Orbital encephalocele; Abnormal electroretinogram | Female | Yes | Yes | Had a similarly affected sibling |