Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_020427.3:c.229T>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 248300.7.1 | Tunisia | Palmoplantar keratoderma; Thickened skin; Palmoplantar hyperhidrosis; Flexion contracture of finger; Cone-shaped epiphyses of the distal phalanges of the hand; Nail dystrophy | Male | Yes | Yes | |
| 248300.7.2 | Tunisia | Palmoplantar keratoderma; Thickened skin; Palmoplantar hyperhidrosis; Flexion contracture of finger; Cone-shaped epiphyses of the distal phalanges of the hand; Nail dystrophy | Male | Yes | Yes | Brother of 248300.7.1 |
| 248300.7.4 | Tunisia | Female | Mother of 248300.7.1 |