Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001165963.4:c.3607C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 607208.10 | Saudi Arabia | Myoclonic seizure | Male | Yes | Yes | |
| 607208.11 | Saudi Arabia | Delayed speech and language development; Intellectual disability; Ataxia; Seizure; Cerebral atrophy | Male | No | Yes | |
| 607208.12 | Saudi Arabia | Microcephaly; Global developmental delay; Myoclonic seizure | Male | |||
| 607208.13 | Saudi Arabia | Motor delay; Delayed speech and language development; Intellectual disability; Autistic behavior; Seizure | Male | |||
| 607208.14 | Saudi Arabia | Delayed speech and language development; Seizure | Male |