Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000373.4:c.1010C>G | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 258900.1.1 | United Arab Emirates | Very preterm birth; Failure to thrive; Recurrent infections; Abnormal lymphocyte count; Abnormal immunoglobulin level; Anemia; Leukopenia; Thrombocytopenia; Seizure; Polymicrogyria; Abnormal periventricular white matter morphology; Orotic acid crystalluria | Female | Yes | Proband | |
| 258900.1.3 | United Arab Emirates | Female | Mother of 258900.1.1 |