Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001163435.3:c.1897+1G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 616900.1.1 | Saudi Arabia | Global developmental delay; Seizure; Abnormal facial shape; Hypotonia; Ventricular septal defect; Death in childhood | Male | Yes | Yes | Proband also had 4 male double first cousins with a similar presentation who were not tested for the mutation. |