Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_018676.3:c.1322_1329del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 236750.1.1 | United Arab Emirates | Pleural effusion; Ascites; Hemangioma; Patent foramen ovale; Atrial septal defect; Mitral regurgitation | Female | Yes | Yes | Proband (patient 'IV.4' in the publication) |
| 236750.1.3 | United Arab Emirates | Pleural effusion; Ascites; Hydrocele testis; Hemangioma; Prominent forehead; Depressed nasal bridge; Hypertelorism; Smooth philtrum | Male | Yes | Yes | Cousin of 236750.1.1 (patient 'IV.9' in the publication) |
| 236750.1.4 | United Arab Emirates | Ascites; Hydrocele testis; Hemangioma; Patent ductus arteriosus; Atrial septal defect; Prominent forehead; Depressed nasal bridge; Hypertelorism; Smooth philtrum | Male | Yes | Yes | Cousin of 236750.1.1 (patient 'IV.10' in the publication) |