| Disease ID | Source | Name | Description |
| 256730 | OMIM | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | A form of neuronal ceroid lipofuscinosis with variable age at onset. Infantile, late-infantile, juvenile, and adult onset have been reported. 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 pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The disease is caused by variants affecting the gene represented in this entry. |