Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000456.2:c.1233_1234del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 272300.2.1 | Sudan | Death in infancy; Seizure; Microcephaly; Brain atrophy | Female | Yes | Yes | |
| 272300.2.2 | Sudan | Seizure; Microcephaly; Brain atrophy; Hypotonia; Vegetative state | Male | Yes | Yes | Brother of 272300.2.1 |
| 272300.2.4 | Sudan | Male | Yes | Yes | Father of 272300.2.1 | |
| 272300.2.5 | Sudan | Female | Yes | Yes | Mother of 272300.2.1 |