Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004870.3:c.310G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 609180.2.1 | United Arab Emirates | Strabismus; Hypotonia; Psychomotor retardation; Seizure; Brain atrophy; Brachycephaly; Hypotelorism; Abnormal glucose-6-phosphate dehydrogenase level | Male | Yes | Yes | |
| 609180.2.2 | United Arab Emirates | Male | Father of 609180.2.1 |