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 |
|---|---|---|---|---|---|---|
| 619099.5.1 | Saudi Arabia | Intellectual disability; Delayed speech and language development; Motor delay; Spondylolisthesis; Failure to thrive | Female | Yes | Patient from 'family 4' in the publication | |
| 619099.5.3 | Saudi Arabia | Female | Mother of 619099.5.1 |