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 | |
232300.12 | United Arab Emirates | Male | Heterozygous carrier; this individual had two children who died of Pompe disease. |