Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004713.6:c.1234_1235insC | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 619099.6.1 | Saudi Arabia | Intellectual disability; Delayed speech and language development; Motor delay; Global developmental delay; Strabismus; Abnormality of ocular abduction; Gait disturbance; Lower limb spasticity; Seizure | Male | Yes | Patient from 'family 5' in the publication | |
| 619099.6.3 | Saudi Arabia | Female | Mother of 619099.6.1 |