| Metadata | |
|---|---|
| ID | DOID:0050733 |
| Name | methylmalonic aciduria and homocystinuria type cblG |
| 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. https://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cblf, https://www.omim.org/entry/250940 |
| Parent Relationships |