Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_020427.3:c.229T>C | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
248300.6.2 | Tunisia | Male | Father of 248300.6.1 | |||
248300.6.3 | Tunisia | Palmoplantar keratoderma; Interdigital fissures; Hyperkeratotic papule | Female | No | Mother of 248300.6.1 | |
248300.6.4 | Tunisia | Palmoplantar keratoderma; Hyperkeratotic papule | Female | Yes | Sister of 248300.6.1 | |
248300.6.5 | Tunisia | Palmoplantar keratoderma | Female | Yes | Sister of 248300.6.1 |