Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_020427.3:c.1A>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 248300.1.1 | United Arab Emirates | Palmoplantar keratoderma; Thickened skin; Flexion contracture of finger; Cone-shaped epiphyses of the distal phalanges of the hand | Male | No | Yes |