|OBO ID: DOID:0111492|
|Term Name:||combined oxidative phosphorylation deficiency 32||Search Ontology:|
|Definition:||A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in MRPS34 on chromosome 16p13.3. https://www.ncbi.nlm.nih.gov/pubmed/28777931|
|Ontology:||Human Disease (DOID:0111492)|
|is a type of:||
OTHER combined oxidative phosphorylation deficiency 32 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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