OBO ID: DOID:0080134 |
Term Name: | multiple mitochondrial dysfunctions syndrome 2 | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0080134 ) |
OTHER multiple mitochondrial dysfunctions syndrome 2 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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