Female
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_020427.3:c.296G>A | 1 |
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 |
248300.9.3 | 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, Sister of 248300.9.2 |
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 | |||
248300.9.8 | Tunisia | Palmoplantar keratoderma | Female | Yes | Yes | Sister of 248300.9.1 |