Female
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 |
272300.1.2 | Saudi Arabia | Male | No | Yes | Father of 272300.1.1 |