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 |
---|---|---|---|---|---|---|
248300.8.1 | 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 | |
248300.8.3 | 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 248300.8.1 |
248300.8.4 | Tunisia | Male | Father of 248300.8.1 | |||
248300.8.5 | Tunisia | Palmoplantar keratoderma; Interdigital fissures; Hyperkeratotic papule | Female | Yes | No | Mother of 248300.8.1 |