| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (LOXHD1) | Hearing loss/Deafness 77 | Autosomal Recessive | 18q21.1 | Substitution | LOXHD1 | c.6136G>A | p.Glu2046Lys | Missense | Zhou et al., 2020/2020 |
| Hearing Impaiment (LOXHD1) | Hearing loss/Deafness 77 | Autosomal Recessive | 18q21.1 | Substitution | LOXHD1 | p.D278Y | Missense | Choi et al., 2023/2023 | |
| Hearing Impaiment (LOXHD1) | Hearing loss/Deafness 77 | Autosomal Recessive | 18q21.1 | Substitution | LOXHD1 | p.D1219E | Missense | Choi et al., 2023/2023 |
