Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000152.5:c.1969del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 232300.7 | Saudi Arabia | Dark urine; Recurrent respiratory infections; Exertional dyspnea; Cyanosis | Male | Yes | No | Patient with both Pompe disease and Alkaptonuria |
| 232300.8 | Saudi Arabia | Unknown | ||||
| 232300.9 | Saudi Arabia | Cardiomyopathy | ||||
| 232300.10 | Saudi Arabia | Global developmental delay; Hypotonia | Female | No | Yes | |
| 232300.11 | Saudi Arabia | Global developmental delay; Hypotonia | Female | No | Yes |