| Metadata | |
|---|---|
| ID | DOID:0111484 |
| Name | combined oxidative phosphorylation deficiency 18 |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/24119684 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
COXPD18 [EXACT] growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome [EXACT] |
| Parent Relationships |