| Disease ID | Source | Name | Description |
| 616198 | OMIM | Combined oxidative phosphorylation deficiency 23 (COXPD23) | An autosomal recessive mitochondrial disorder characterized by hypertrophic cardiomyopathy and/or neurologic symptoms with onset in early childhood. Disease features include hypertrophic cardiomyopathy, hypotonia, delayed psychomotor development, lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Disease severity is variable, ranging from death in early infancy to survival into the second decade of life. The disease is caused by variants affecting the gene represented in this entry. |
| 580000 | OMIM | Deafness, aminoglycoside-induced (DFNI) | A form of sensorineural deafness characterized by moderate-to-profound hearing loss and mitochondrial inheritance. It is induced by exposure to aminoglycosides. |