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| Term | multiple mitochondrial dysfunctions syndrome 2 | ID (Ontology) | DOID:0080134 (Human Disease) |
| 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. | ||
| Also Known As | "BOLA3 deficiency" ; "multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia" | ||
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autosomal genetic disease |__autosomal recessive disease___________________ mitochondrial metabolism disease | |__multiple mitochondrial dysfunctions syndrome__| multiple mitochondrial dysfunctions syndrome 2 |
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autosomal recessive disease multiple mitochondrial dysfunctions syndrome |
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GARD:12632 MIM:614299 ORDO:401874 |
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