Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014241.4:c.785-1G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 255310.1 | Saudi Arabia | Muscle weakness; Poor suck; Failure to thrive; Feeding difficulties; Nasal regurgitation; Motor delay; Poor head control; Areflexia; Abdominal distention | Male | No | Yes | Proband |
| 255310.2 | Saudi Arabia | Muscle weakness; Myopathy | Female | Proband |