Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005219.5:c.2332C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 616632.1.1 | Saudi Arabia | Seizure; Microcephaly; Intellectual disability; Motor delay; Delayed speech and language development; Visual impairment | Female | Yes | Yes | Patient had a sibling that passed away at 3 months due to congenital heart disease |
| 616632.1.2 | Saudi Arabia | Death in adolescence; Seizure; Microcephaly; Intellectual disability; Motor delay; Delayed speech and language development; Visual impairment | Female | Yes | Yes | Sibling of 616632.1.1 |
| 616632.1.3 | Saudi Arabia | Death in adolescence; Seizure; Microcephaly; Intellectual disability; Motor delay; Delayed speech and language development; Visual impairment | Female | Yes | Yes | Sibling of 616632.1.1 |
| 616632.1.5 | Saudi Arabia | Seizure; Microcephaly; Intellectual disability; Motor delay; Delayed speech and language development; Visual impairment | Male | Yes | Yes | Sibling of 616632.1.1 |
| 616632.1.6 | Saudi Arabia | Male | Father of 616632.1.1 | |||
| 616632.1.7 | Saudi Arabia | Female | Mother of 616632.1.1 |