Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_016156.5:c.331dupA | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601382.1.2 | Algeria | Stridor; Distal amyotrophy; Proximal amyotrophy; Distal muscle weakness; Proximal muscle weakness; Abnormal rib cage morphology; Split hand; Steppage gait; Vocal cord paresis | Male | Yes | Yes | Brother of 601382.1.1 |
| 601382.1.3 | Algeria | Stridor; Distal amyotrophy; Proximal amyotrophy; Distal muscle weakness; Proximal muscle weakness; Abnormal rib cage morphology; Talipes equinovarus; Split hand; Steppage gait; Vocal cord paresis | Male | Yes | Yes | Brother of 601382.1.1 |
| 601382.1.4 | Algeria | Male | Yes | Unaffected father of 601382.1.1 | ||
| 601382.1.5 | Algeria | Female | Yes | Unaffected mother of 601382.1.1 | ||
| 601382.1.6 | Algeria | Female | Yes | Unaffected paternal grandmother of 601382.1.1 |