Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000152.3:c.340_341insT | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 232300.7 | Palestine | Dark urine; Recurrent respiratory infections; Exertional dyspnea; Cyanosis | Male | Yes | No | Patient with both Pompe disease and Alkaptonuria |
| 232300.9 | Palestine | Cardiomyopathy | ||||
| 232300.10 | Palestine | Global developmental delay; Hypotonia | Female | No | Yes | |
| 232300.11 | Palestine | Global developmental delay; Hypotonia | Female | No | Yes |