| Disease ID | Source | Name | Description |
| 617916 | OMIM | Neurodegeneration with brain iron accumulation 7 (NBIA7) | A neurodegenerative disorder associated with iron accumulation, primarily in the basal ganglia. Clinical features include speech and motor delay, truncal hypotonia, progressive cerebellar ataxia, and loss of ambulation. NBIA7 transmission pattern is consistent with autosomal recessive inheritance. The disease is caused by variants affecting the gene represented in this entry. |