Female
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017780.3:c.7165-2A>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 214800.1 | United Arab Emirates | Neurodevelopmental delay; Microcephaly; Micropenis; Hydronephrosis; Single umbilical artery; Leukodystrophy | Unknown | No | ||
| 214800.3 | United Arab Emirates | Global developmental delay; Failure to thrive; Abnormal heart morphology | Male | No | No | de novo mutation |