Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_152564.5:c.1219C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 216550.9.1 | Saudi Arabia | Intellectual disability; Global developmental delay; Hypotonia; Attention deficit hyperactivity disorder; Joint hypermobility; Unsteady gait; Carious teeth | Female | No | Proband from 'family 034' in the publication | |
| 216550.9.3 | Saudi Arabia | Female | Mother of 216550.9.1 |