Female
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001814.4:c.815G>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 245000.6.1 | Lebanon | Palmoplantar hyperkeratosis ; Gingivitis; Periodontitis; Premature loss of teeth | Female | Yes | No | |
| 245000.6.2 | Lebanon | Palmoplantar hyperkeratosis ; Gingivitis; Periodontitis; Premature loss of teeth | Female | Yes | No | Sibling of 245000.6.1 |