Female
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 |
|---|---|---|---|---|---|---|
| 601536.6 | Saudi Arabia | Hearing impairment | Male | Yes | 'Patient A1' in the publication | |
| 601536.7 | Saudi Arabia | Hearing impairment; Global developmental delay; Autistic behavior; Seizure; Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis; Patent ductus arteriosus; Interrupted aortic arch | Female | Yes | 'Patient B1' in the publication |