| Disease ID | Source | Name | Description |
| 615643 | OMIM | Neurodegeneration with brain iron accumulation 6 (NBIA6) | A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive motor and cognitive dysfunction beginning in childhood or young adulthood. Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism. The disease is caused by variants affecting the gene represented in this entry. |
| 618266 | OMIM | Pontocerebellar hypoplasia 12 (PCH12) | A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH12 is an autosomal recessive form characterized by onset in utero and death in infancy. Brain imaging shows microcephaly, cerebellar hypoplasia, micrognathia, and multiple contractures. The disease is caused by variants affecting the gene represented in this entry. |