Female
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003482.3:c.16294C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 147920.4 | United Arab Emirates | 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 | United Arab Emirates | Global developmental delay; Abnormal facial shape | Male | No | No | de novo mutation |
| 147920.6 | United Arab Emirates | Diaphragmatic eventration; Global developmental delay; Abnormal facial shape; Microcephaly; Hypotonia | Male | No | No | de novo mutation |
| 147920.7 | United Arab Emirates | Global developmental delay; Attention deficit hyperactivity disorder | Female | No | No | de novo mutation |
| 147920.8 | United Arab Emirates | Microphthalmia; Coloboma; Microcornea; Microtia; Atrial septal defect; Ventricular septal defect; Horseshoe kidney; Global developmental delay; Seizure; Periventricular leukomalacia | Male | No | No | de novo mutation |