| Disease ID | Source | Name | Description |
| 618951 | OMIM | Combined oxidative phosphorylation deficiency 45 (COXPD45) | An autosomal recessive mitochondrial disorder with onset in utero and characterized by poor overall growth, failure to thrive, global developmental delay, poor or absent speech, seizures, hypotonia, loss of walking, acute progressive neurologic deterioration, brain lesions, and facial dysmorphism. Laboratory studies show increased serum lactate and decreased mitochondrial respiratory chain enzyme activity in patient tissues. The disease may be caused by variants affecting the gene represented in this entry. |