| Disease ID | Source | Name | Description |
| 617228 | OMIM | Combined oxidative phosphorylation deficiency 31 (COXPD31) | An autosomal recessive, severe mitochondrial disease with multisystemic manifestations appearing soon after birth or in early infancy. Clinical features include left ventricular non-compaction, global developmental delay, severe hypotonia, seizures, cataract, and abnormal movements. Death may occur in early childhood. The disease is caused by variants affecting the gene represented in this entry. |