Female
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001281723.3:c.1270G>C | 1 | |||
| NM_001281723.3:c.497G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 232300.7 | United Arab Emirates | Dark urine; Recurrent respiratory infections; Exertional dyspnea; Cyanosis | Male | Yes | No | Patient with both Pompe disease and Alkaptonuria |
| 232300.8 | United Arab Emirates | Unknown | ||||
| 232300.9 | United Arab Emirates | Cardiomyopathy | ||||
| 232300.11 | United Arab Emirates | Global developmental delay; Hypotonia | Female | No | Yes |