Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001360016.2:c.202G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 300908.11 | United Arab Emirates | Decreased glucose-6-phosphate dehydrogenase level in blood | ||||
| 300908.12 | United Arab Emirates | Decreased glucose-6-phosphate dehydrogenase level in blood; Autistic behavior; Global developmental delay | Male | Yes | Yes | In addition to the G6PD variant, the patient was identified with a variant of uncertain significance in TSC2 gene that could have an effect on his overall phenotype. |