| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Pantothenate Kinase-associated Neuro (PANK2) | Accumulation of iron in basal ganglia | Autosomal Recessive | 20p12.3-p12 | Missense | PANK2 | 704A>G | Tyr227Cys | Amino Acid Substitution | 0/Saleheen et al., 2007 |
