Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001032221.6:c.910_911del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 612164.1 | United Arab Emirates | Global developmental delay; Seizure; Agitation | Female | No | No | de novo mutation |
| 612164.2 | United Arab Emirates | Seizure; Attention deficit hyperactivity disorder | Female | Yes | Yes | |
| 612164.3 | United Arab Emirates | Tonic seizure; Clonic seizure; EEG abnormality; Global developmental delay; Truncal ataxia; Autism | Male | No | ||
| 612164.4 | United Arab Emirates | Myoclonic seizure; EEG abnormality; Autistic behavior | Male | No | ||
| 612164.5 | United Arab Emirates | Focal sensory seizure; EEG abnormality; Multifocal epileptiform discharges; Global developmental delay | Female | |||
| 612164.7 | United Arab Emirates | Global developmental delay; Tremor | Female | No | Yes |