Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014241.4:c.373_375+2del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 255310.1 | Iraq | Muscle weakness; Poor suck; Failure to thrive; Feeding difficulties; Nasal regurgitation; Motor delay; Poor head control; Areflexia; Abdominal distention | Male | No | Yes | Proband |
| 255310.3 | Iraq | 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 |