| Disease ID | Source | Name | Description |
| 618775 | OMIM | Mitochondrial complex III deficiency, nuclear 10 (MC3DN10) | A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN10 is an autosomal recessive form characterized by fetal bradycardia, poor feeding, hypotonia, hypertrophic cardiomyopathy, alopecia totalis, low mitochondrial complex III activity and lactic acidosis. The disease is caused by variants affecting the gene represented in this entry. |