Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005522.5:c.175dup | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601536.4.1 | Saudi Arabia | Talipes equinovarus | Male | Yes | Patient from 'family/pedigree NO' in the publication | |
| 601536.4.3 | Saudi Arabia | Female | Mother of 601536.4.1 |