Term Name: | neuronal ceroid lipofuscinosis 11 |
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Synonyms: | CLN11 |
Definition: | 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. |
Ontology: | Human Disease [DOID:0110732] ( DOID:0110732 ) |