| Disease ID | Source | Name | Description |
| 162350 | OMIM | Ceroid lipofuscinosis, neuronal, 4B (CLN4B) | An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4B has no visual involvement and is characterized by seizures and other neurologic symptoms. The disease is caused by variants affecting the gene represented in this entry. |