| Disease ID | Source | Name | Description |
| 617873 | OMIM | Combined oxidative phosphorylation deficiency 35 (COXPD35) | An autosomal recessive disorder caused by defective mitochondrial metabolism and deficiencies of mitochondrial respiratory enzyme complexes. Clinical manifestations include global developmental delay, intellectual disability, microcephaly, and early-onset seizures. The disease is caused by variants affecting the gene represented in this entry. |