Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000178.4:c.847C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 266130.2.1 | Saudi Arabia | Hemolytic anemia; Metabolic acidosis; Leukopenia; Intellectual disability, mild | Male | Yes | Yes |