| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 2q36.3 | Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type) | 607483 | AR | 3 |
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|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 2q36.3 | Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type) | 607483 | AR | 3 | SLC19A3 | 606152 |
| Location | Phenotype | Inheritance |
Phenotype mapping key |
Phenotype MIM number |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 1q24.2 | Thiamine-responsive megaloblastic anemia syndrome | AR | 3 | 249270 | SLC19A2 | 603941 |
| 2q36.3 | Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type) | AR | 3 | 607483 | SLC19A3 | 606152 |
| 7q35 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | AR | 3 | 614458 | TPK1 | 606370 |
| 17q25.1 | Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) | AR | 3 | 613710 | SLC25A19 | 606521 |
| 17q25.1 | Microcephaly, Amish type | AR | 3 | 607196 | SLC25A19 | 606521 |
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