Disease ID | Source | Name | Description |
604218 | OMIM | Encephalopathy, familial, with neuroserpin inclusion bodies (FENIB) | A neurodegenerative disease clinically characterized by dementia. Additional features include intellectual decline, psychic seizures, progressive myoclonic epilepsy, and cerebral atrophy. Histologically, it is characterized by the presence of eosinophilic inclusion bodies (called Collins bodies) throughout the deeper layers of the cerebral cortex, leading to neuronal death. The disease is caused by variants affecting the gene represented in this entry. |