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methylmalonic aciduria and homocystinuria type cblG
Summary
- Definition
- A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism.
- Super Class
- methylmalonic acidemia
External Links
- Disease Ontology
- DOID:0050733
