Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_007326.4:c.813_815delinsAA | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 250800.1.1 | Lebanon | Cyanosis; Intellectual disability, profound; Microcephaly; Athetosis; Strabismus; | Male | No | No | |
| 250800.1.2 | Lebanon | ; | Female | No | Mother of 250800.1.1 | |
| 250800.1.3 | Lebanon | ; | Male | No | Father of 250800.1.1 | |
| 250800.1.4 | Lebanon | ; | Female | No | Sibling of 250800.1.1 |