| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment 44 (DFNB44, ADCY1) | Profound prelingual hearing impairment | Autosomal Recessive | 7p14.1-q11.22 | Nonsense | ADCY1 | 3112C>T | Arg1038* | Premature Termination | 0/Santos-Cortez et al., 2014 |
