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