|OBO ID: DOID:0080134|
|Term Name:||multiple mitochondrial dysfunctions syndrome 2||Search Ontology:|
|Definition:||A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13. (5)|
|Ontology:||Human Disease (DOID:0080134)|
|is a type of:||
OTHER multiple mitochondrial dysfunctions syndrome 2 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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