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Syndromic Forms Imputable to GJB2 Mutations
| Syndrome | Mutations | OMIM code |
|---|---|---|
| Keratitis-ichthyosis- deafness (KID) | G11E, G12R, N14K, N14Y, S17F, I30N, A40V, G45E, D50N, D50Y, A88V | 148210 |
| Ichthyosis, hystrix-like-deafness (HID) | D50N, D50Y | 602540 |
| Palmoplantar keratoderma- deafness (PPK) | Delta E42, N54H, G59A, G59R, H73R, R75Q, R75W, G130V, S183F | 148350 |
| Vohwinkel | G59S, Y65H, D66H, G130V | 124500 |
| Burt-Pumphrey | N54K, G59S | 149200 |
| Unususal mucocutaneous- deafness | F142L | - |
