Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
Hearing Impairment 21 (DFNB21, TECTA) | Prelingual hearing impairment | Autosomal Recessive | 11q23.3 | Deletion | TECTA | 6037delG | Frame shift mutation & PTC | 0/Naz et al., 2003 |