Male
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003482.4:c.8311C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 147920.3 | Saudi Arabia | Global developmental delay; Abnormal heart morphology | Female | No | No | de novo mutation |
| 147920.4 | Saudi Arabia | Congenital hypothyroidism; Joint laxity; Global developmental delay; Abnormal facial shape; Failure to thrive; Short stature; Gait disturbance | Female | No | Yes | de novo mutation |
| 147920.5 | Saudi Arabia | Global developmental delay; Abnormal facial shape | Male | No | No | de novo mutation |
| 147920.6 | Saudi Arabia | Diaphragmatic eventration; Global developmental delay; Abnormal facial shape; Microcephaly; Hypotonia | Male | No | No | de novo mutation |
| 147920.7 | Saudi Arabia | Global developmental delay; Attention deficit hyperactivity disorder | Female | No | No | de novo mutation |