Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001814.6:c.319-1G>A | 1 | |||
| NM_000372.5:c.816G>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 245000.5.1 | Egypt | Palmoplantar hyperkeratosis; Generalized periodontitis; Albinism | Female | Yes | Yes | The patient also had a grandfather with albinism and a cousin with features of both OCA1 and PLS. |
| 245000.5.2 | Egypt | Male | Yes | Unaffected father of 245000.5.1 | ||
| 245000.5.4 | Egypt | Male | Yes | Yes | Unaffected brother of 245000.5.1 |