| Brown-Vialetto-Van Laere syndrome, type 1 |
SLC52A3 |
211530 |
| Brown-Vialetto-Van Laere syndrome, type 2 |
SLC52A2 |
614707 |
| Brown-Vialetto-Van Laere syndrome, type 3 |
SLC52A1 |
607883 |
| Ceruloplasmine deficiency / Ferroxidase |
CP |
604290 |
| Cytosolic iron-sulfur assembly component |
CIAO1 |
604333 |
| Dihydrofolate reductase deficiency |
DHFR |
613839 |
| Flavin adenine dinucleotide synthetase (FADS) deficiency |
FLAD1 |
255100 |
| Folate malabsorption, hereditary |
SLC46A1 |
229050 |
| Folate transport deficiency |
FOLR1 |
613068 |
| Gastric intrinsic factor deficiency |
GIF |
261000 |
| Holocarboxylase synthetase deficiency |
HLCS |
253270 |
| Hypercarotenemia and vitamin A deficiency |
BCO1 |
115300 |
| Hyperfenylalaninemia, BH4-deficiency, A |
PTS |
261640 |
| Hyperfenylalaninemie, BH4-deficiency, C / Dihydropteridine reductase deficiency |
QDPR |
261630 |
| Imerslund-Grasbeck syndrome 2/ Megaloblastic anemia, Norwegian type |
AMN |
618882 |
| Methylenetetrahydrofolate dehydrogenase 1 deficiency |
MTHFD1 |
601643 |
| Methylenetetrahydrofolate reductase deficiency |
MTHFR |
236250 |
| Methylmalonic aciduria and homocysteinemia, cblX type (X-linked) |
HCFC1 |
309541 |
| Methylmalonic aciduria and homocystinuria, cblC type |
MMACHC |
277400 |
| Methylmalonic aciduria and homocystinuria, cblD type |
MMADHC |
277410 |
| Methylmalonic aciduria and homocystinuria, cblF type |
LMBRD1 |
277380 |
| Methylmalonic aciduria and homocystinuria, cblJ type |
ABCD4 |
614857 |
| Methylmalonic aciduria, vitamin B12 responsive, cblA type |
MMAA |
607481 |
| Methylmalonic aciduria, vitamin B12 responsive, cblB type |
MMAB |
607568 |
| Methylmalonic aciduria, vitamin B12 responsive, transcobalamin receptor defect |
TCbIR |
613646 |
| 5-Methyltetrahydrofolate-homocysteine methyltransferase deficiency, type cblG |
MTR |
156570 |
| 5-Methyltetrahydrofolate-homocysteine methyltransferase reductase deficiency, type cblE |
MTRR |
602568 |
| Molybdenum cofactor deficiency, type A |
MOCS1 |
252150 |
| Molybdenum cofactor deficiency, type B |
MOCS2 |
252160 |
| Molybdenum cofactor deficiency, type C |
GPHN |
615501 |
| Pyridoxal phosphate binding protein |
PLPBP |
617290 |
| Pyridoxamine 5'-phosphate oxidase deficiency |
PNPO |
610090 |
| Pyridoxine dependent epilepsy |
ALDH7A1 |
266100 |
| Thiamine transporter deficiency |
SLC19A3 |
607483 |
| Zinc transporter deficiency/ Acrodermatitis enteropathica |
SLC39A4 |
201100 |
