Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000456.3:c.520del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 272300.1.1 | Saudi Arabia | Seizure; Microcephaly; Global developmental delay; Hypotonia; Brain atrophy | Male | Yes | Yes | The patient had two maternal cousins with isolated sulfite oxidase deficiency |
| 272300.1.3 | Saudi Arabia | Female | No | Yes | Mother of 272300.1.1 |