Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001350748.2:c.2758del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615419.10.1 | Egypt | Global developmental delay; Failure to thrive; High forehead; Hypotonia; Autistic behavior; Seizure | Male | Yes | Yes |