| Disease ID | Source | Name | Description |
| 204300 | OMIM | Ceroid lipofuscinosis, neuronal, 4A (CLN4A) | 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. CLN4A has no visual involvement and is characterized by progressive myoclonic epilepsy. The disease is caused by variants affecting the gene represented in this entry. |
| 601780 | OMIM | Ceroid lipofuscinosis, neuronal, 6 (CLN6) | A form of 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. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 6 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. The disease is caused by variants affecting the gene represented in this entry. |