Female
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003159.3:c.229_232del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 300672.1 | United Arab Emirates | Global developmental delay; Developmental regression; Intellectual disability; Hypertonia; Seizure; | Unknown | No | De novo mutation in an X-linked gene. Low-level mosaicism |