1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0111484 | combined oxidative phosphorylation deficiency 18 | A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.11. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0014667 | disease of metabolism | A disease that involving errors in metabolic processes of building or degradation of molecules. |
