Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000152.4:c.1327-2A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 232300.1.2 | United Arab Emirates | Ventricular hypertrophy | Male | Yes | Yes | Sibling of 232300.1.1. Has unaffected fraternal twin brother. Youngest patient with Pompe disease to receive ERT. |