Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001013663.2:c.365G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617342.1.1 | Saudi Arabia | Intellectual disability; Global developmental delay; Hypotonia; Hyperactivity; Absent speech; Abnormal facial shape | Female | Yes | Yes | |
| 617342.1.2 | Saudi Arabia | Intellectual disability; Hyperactivity; Abnormal facial shape; Global developmental delay; Delayed speech and language development; Bilateral tonic-clonic seizure | Male | Yes | Yes | Brother of 617342.1.1 |
| 617342.1.4 | Saudi Arabia | Male | Father of 617342.1.1 | |||
| 617342.1.5 | Saudi Arabia | Female | Mother of 617342.1.1 |