Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
Hearing Impairment 63 (DFNB63, LRTOMT) | Profound hearing impairment | Autosomal Recessive | 11q13.3- q13.4. | Missense | LRTOMT | 328G>A | Glu110Lys | Amino Acid Substitution | 0/Ahmed et al., 2008 |