Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014241.3:c.458G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 255310.2 | United Arab Emirates | Muscle weakness; Myopathy | Female | Proband | ||
| 255310.3 | United Arab Emirates | Pectus excavatum; hypotonia; Persistent head lag; Poor head control; Motor delay; Failure to thrive; Joint laxity; Cutis laxa; Muscle weakness; Gowers sign; Scapular winging; Narrow chest | Male | No | Yes | Proband |