Female
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_016156.5:c.331dupA | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
601382.1.1 | Algeria | Stridor; Distal amyotrophy; Proximal amyotrophy; Distal muscle weakness; Abnormal rib cage morphology; Talipes equinovarus; Split hand; Steppage gait; Somatic sensory dysfunction; Vocal cord paresis | Male | Yes | Yes | |
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 | ||
601382.1.6 | Algeria | Female | Yes | Unaffected paternal grandmother of 601382.1.1 |