Disease ID | Source | Name | Description |
614582 | OMIM | Combined oxidative phosphorylation deficiency 9 (COXPD9) | A mitochondrial disease characterized by failure to thrive, poor feeding, hypertrophic cardiomyopathy, hepatomegaly, and psychomotor retardation. Death in infancy has been observed in some cases. The disease is caused by variants affecting the gene represented in this entry. |