Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_025216.3:c.697G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 257980.1.1 | Lebanon | Dry hair ; Keratosis pilaris ; Hypodontia ; Smooth tongue ; Nail dysplasia ; Nail dystrophy ; Palmoplantar erythema ; Palmoplantar keratoderma ; Palmoplantar hyperhidrosis | Male | Yes | Yes | |
| 257980.1.3 | Lebanon | Dry hair ; Keratosis pilaris ; Hypodontia ; Smooth tongue ; Nail dysplasia ; Nail dystrophy ; Palmoplantar erythema ; Palmoplantar keratoderma ; Palmoplantar hyperhidrosis | Male | Yes | Yes | First cousin of 257980.1.1 |
| 257980.1.4 | Lebanon | Male | Yes | Unaffected father of 257980.1.1 | ||
| 257980.1.5 | Lebanon | Female | Yes | Unaffected mother of 257980.1.1 | ||
| 257980.1.6 | Lebanon | Male | Yes | Unaffected father of 257980.1.3 | ||
| 257980.1.7 | Lebanon | Female | Yes | Unaffected mother of 257980.1.3 |