- TypePhenotype
- Associated genes
- CBS Homocystinuria, classical
- MTR Methionine synthase deficiency
- MTRR Methionine synthase reductase deficiency
- MTHFR 5,10-methylenetetrahydrofolate reductase deficiency
- MTHFD1 Methylenetetrahydrofolate dehydrogenase 1 deficiency
- MMCHC
- MMACHC Methylmalonic aciduria and homocystinuria, cblC type
- PRDX1 CcblC epimutation variant
- HCFC1 Methylmalonic aciduria and homocystinuria, cblX type
- THAP11 Ronin deficiency
- ZNF143 ZNF143 deficiency
- LMBD1
- ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type
- MMADHC Methylmalonic aciduria and homocystinuria, cblD type
- Disease group(s)