Female
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001101.3:c.773C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 243310.2 | United Arab Emirates | Hip dysplasia; Metopic synostosis; Microcephaly; Colpocephaly; Global developmental delay; Patent ductus arteriosus; Umbilical hernia; Asthma; Abnormal facial shape | Female | No | de novo mutation |