Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001256182.1:c.6360G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 148050.2 | United Arab Emirates | Abnormal facial shape; Polydactyly; Delayed speech and language development; Ventricular septal defect; Pulmonic stenosis | Female | No | No | de novo mutation |