Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006565.4:c.1699C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615502.2 | United Arab Emirates | Intrauterine growth retardation; Failure to thrive; Global developmental delay; Abnormal facial shape; Finger syndactyly; Clinodactyly; Delayed speech and language development; Craniosynostosis; Atrial septal defect; Patent ductus arteriosus; Recurrent lower respiratory tract infections | Female | No | Yes | Mutation identified in proband is de novo. |