Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000038.6:c.423-4_423-2del | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 611731.1.1 | Saudi Arabia | Syndactyly; Polydactyly; Short stature; Marked delay in eruption of permanent teeth | Female | Yes | Yes | |
| 611731.1.2 | Saudi Arabia | Syndactyly; Polydactyly; Short stature; Marked delay in eruption of permanent teeth | Female | Yes | Yes | Relative of 611731.1.1 |
| 611731.1.3 | Saudi Arabia | Syndactyly; Polydactyly; Short stature; Marked delay in eruption of permanent teeth | Male | Yes | Yes | Relative of 611731.1.1 |
| 611731.1.5 | Saudi Arabia | Syndactyly; Polydactyly; Short stature; Marked delay in eruption of permanent teeth | Male | Yes | Yes | Relative of 611731.1.1 |