| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004713.6:c.2871_2875dup | 3 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 619099.2.1 | Saudi Arabia | Intellectual disability; Global developmental delay; Delayed speech and language development; Attention deficit hyperactivity disorder; Seizure | Male | Yes | Yes | Patient from 'family SAU1' in the publication |
| 619099.2.2 | Saudi Arabia | Intellectual disability; Global developmental delay; Delayed speech and language development; Attention deficit hyperactivity disorder | Male | Yes | Yes | Brother of 619099.2.1 |