Male
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017780.3:c.6609del | 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 | ||
| 214800.2 | United Arab Emirates | Global developmental delay; Intellectual disability; Abnormal facial shape | Female | No | No | de novo mutation |