Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001164730.2:c.324+1_324+7delinsAC | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 604320.4.1 | Lebanon | Equinovarus deformity; Progressive distal muscle weakness; Hypotonia; Peripheral axonal neuropathy; Respiratory distress; | Male | No | Yes | |
| 604320.4.3 | Lebanon | ; | Female | Mother of 604320.4.1 |