| Disease ID | Source | Name | Description |
| 604377 | OMIM | Mitochondrial complex IV deficiency, nuclear type 2 (MC4DN2) | An autosomal recessive, severe mitochondrial disorder characterized by hypotonia, global developmental delay, hypertrophic cardiomyopathy, lactic acidosis, gliosis, and neuronal loss in basal ganglia, brainstem and spinal cord. Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure. The disease is caused by variants affecting the gene represented in this entry. |
| 608908 | OMIM | Myopia 6 (MYP6) | A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. The disease is caused by variants affecting the gene represented in this entry. |