Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005522.5:c.175dup | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601536.8.1 | Saudi Arabia | Hearing impairment; Global developmental delay; Seizure; Tetralogy of Fallot; Low-set ears; Hypertrichosis; Talipes equinovarus | Male | Yes | Yes | 'Patient C1' in the publication |
| 601536.8.3 | Saudi Arabia | Congestive heart failure; Ventricular septal defect | Female | Yes | Yes | Sister of 601538.8.1 |
| 601536.8.4 | Saudi Arabia | Ventricular septal defect | Male | Yes | Yes | Brother of 601538.8.1 |