| Disease ID | Source | Name | Description |
| 300894 | OMIM | Neurodegeneration with brain iron accumulation 5 (NBIA5) | A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA5 is characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until adolescence or early adulthood. In young adulthood, affected individuals develop progressive dystonia, parkinsonism, extrapyramidal signs, and dementia resulting in severe disability. The disease is caused by variants affecting the gene represented in this entry. |