|OBO ID: DOID:0111488|
|Term Name:||combined oxidative phosphorylation deficiency 31||Search Ontology:|
|Definition:||A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in MIPEP on chromosome 13q12.12. https://www.ncbi.nlm.nih.gov/pubmed/27799064|
|Ontology:||Human Disease (DOID:0111488)|
|is a type of:||
OTHER combined oxidative phosphorylation deficiency 31 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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