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neuronal ceroid lipofuscinosis 11

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene.
Uniprot Description A form of neuronal ceroid lipofuscinosis characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material.
Disease Ontology Description A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q.
Mondo Term and Equivalent IDs
MONDO:0013866:  neuronal ceroid lipofuscinosis 11
Orphanet:314629: 
UMLS:C3539123: