Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_025216.3:c.697G>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 257980.2.1 | Lebanon | Aplasia/Hypoplasia of the nails ; Nail dystrophy ; Palmoplantar keratoderma ; Palmoplantar hyperhidrosis ; Oligodontia ; Smooth tongue ; Diffuse palmoplantar hyperkeratosis ; Dry hair | Male | Yes | Yes | |
| 257980.2.2 | Lebanon | Palmoplantar keratoderma ; Palmoplantar hyperhidrosis ; Oligodontia ; Smooth tongue ; Alopecia ; Dry skin ; Abnormal hair pattern | Male | Yes | Yes | Paternal uncle of 257980.2.1 |
| 257980.2.3 | Lebanon | Male | Yes | Yes | Unaffected father of 257980.2.1 |