| Disease ID | Source | Name | Description |
| 618855 | OMIM | Combined oxidative phosphorylation deficiency 44 (COXPD44) | An autosomal recessive mitochondrial disorder characterized by onset in infancy or early childhood of global developmental delay, hypotonia, and abnormal movements. Combined oxidative phosphorylation deficiency is present in skeletal muscle. Most patients have seizures associated with status epilepticus. Additional variable features include optic atrophy, hypertrophic cardiomyopathy, stroke-like episodes, and increased lactate levels in serum and cerebrospinal fluid. The disease is caused by variants affecting the gene represented in this entry. |