Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_020780.2:c.3555C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 611251.1.1 | Jordan | Intellectual disability, mild; Seizure; Delayed gross motor development | Male | Yes | Yes | |
| 611251.1.3 | Jordan | Intellectual disability, mild; Seizure; Delayed gross motor development; Delayed speech and language development | Male | Yes | Yes | Sibling of 611251.1.1 |