Female
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001256182.1:c.2368_2369delinsTTCT | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 148050.1 | United Arab Emirates | Global developmental delay; Abnormal facial shape; Hearing impairment; Ventricular septal defect; Failure to thrive | Male | No | Yes | de novo mutation |