| umls-concept:C0751383 | skos:definition | NCI: A rare, often fatal, inherited neurodegenerative disorder characterized by the accumulation of lipopigments in the body. It is manifested in childhood. Signs and symptoms include progressive vision loss, progressive motor skills deterioration, mental impairment, and seizures.,MSH: This type is caused by mutation in the CLN3 gene encoding a lysosomal integral membrane protein (Battenin). | lld:umls |
