Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
Hearing Impairment 67 (DFNB67, TMHS) | Prelingual hearing impairment | Autosomal Recessive | 6p21.1-p22.3 | Deletion | TMHS | 246delC | Pro83fs*84 | Frame shift mutation & PTC | 0/Shabbir et al., 2006 |