Table 1.
Clinical manifestations | The incidence rate of SNHL | Genetic mutation | |
---|---|---|---|
Type 1 | Dystopia canthorum, white forelock, white eyelashes, leukoderma, heterochromia iridis | 60% | PAX3 |
| |||
Type 2 | The absence of dystopia canthorum | 90% |
MITF, WS2B, WS3B
EDNRB, EDN3, SOX10 SNAI2 |
| |||
Type 3 | Type 1 + upper limb abnormalities | 60% | PAX3 |
| |||
Type 4 | Type 2 + Hirschsprung's disease | 90% | EDNRB, EDN3, SOX10 |