Disease ID | Source | Name | Description |
616501 | OMIM | Mitochondrial complex IV deficiency, nuclear type 13 (MC4DN13) | An autosomal recessive, infantile disorder with a fatal course in the first weeks of life, characterized by hypertrophic cardiomyopathy, left ventricular non-compaction, lactic acidosis, metabolic hypotonia, and mitochondrial complex IV deficiency. The disease is caused by variants affecting the gene represented in this entry. |