Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_020427.3:c.296G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 248300.9.1 | Tunisia | Palmoplantar keratoderma; Thickened skin; Palmoplantar hyperhidrosis; Flexion contracture of finger; Cone-shaped epiphyses of the distal phalanges of the hand; Nail dystrophy | Female | Yes | Yes | |
| 248300.9.2 | Tunisia | Palmoplantar keratoderma; Thickened skin; Palmoplantar hyperhidrosis; Flexion contracture of finger; Cone-shaped epiphyses of the distal phalanges of the hand; Nail dystrophy | Female | Yes | Yes | Double first cousin of 248300.9.1 |
| 248300.9.4 | Tunisia | Male | Father of 248300.9.1 | |||
| 248300.9.5 | Tunisia | Palmoplantar keratoderma; Interdigital fissures | Female | Yes | No | Mother of 248300.9.1 |
| 248300.9.6 | Tunisia | Male | Father of 248300.9.2 and 248300.9.3 | |||
| 248300.9.7 | Tunisia | Palmoplantar keratoderma ; Interdigital fissures | Female | Yes | No | Mother of 248300.9.2 and 248300.9.3 |
| 248300.9.8 | Tunisia | Palmoplantar keratoderma | Female | Yes | Yes | Sister of 248300.9.1 |