Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_181882.3:c.3099del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614895.3.2 | Egypt | Intellectual disability; Global developmental delay; Hyperactivity; Hypotonia; Seizure; Hypoplasia of the corpus callosum | Female | Yes | Yes | Sister of 614895.3.1 |