Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014714.4:c.1990G>A | 1 | NA | ||
| NM_014714.4:c.1525-1G>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 266920.3 | Saudi Arabia | Limb undergrowth; Narrow chest; Polydactyly; Hypertrophic cardiomyopathy | Female | Yes | Yes |