Disease ID | Source | Name | Description |
610127 | OMIM | Ceroid lipofuscinosis, neuronal, 10 (CLN10) | A form of neuronal ceroid lipofuscinosis with onset at birth or early childhood. 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 disease is caused by variants affecting the gene represented in this entry. |