| Disease ID | Source | Name | Description |
| 616239 | OMIM | Combined oxidative phosphorylation deficiency 24 (COXPD24) | An autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe disorder, reminiscent of Alpers syndrome. Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter. The disease is caused by variants affecting the gene represented in this entry. |
| 618434 | OMIM | Deafness, autosomal recessive, 94 (DFNB94) | A form of non-syndromic, sensorineural deafness characterized by prelingual, profound, bilateral hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease may be caused by variants affecting the gene represented in this entry. |