Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001204077.2:c.384G>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 619639.1.1 | Saudi Arabia | Intellectual disability, severe; Poor speech; Loss of ambulation; Attention deficit hyperactivity disorder; Hypotonia; Lower limb spasticity; Seizure | Male | Yes | Yes | Patient from 'family C' in Melo et al. 2021. |
| 619639.1.2 | Saudi Arabia | Intellectual disability, severe; Poor speech; Attention deficit hyperactivity disorder; Hypotonia; Seizure | Female | Yes | Yes | Sister of 619639.1.1 |
| 619639.1.3 | Saudi Arabia | Male | Father of 619639.1.1 |