Disease

neuronal ceroid lipofuscinosis 11

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.
Synonyms
  • CLN11
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

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Associated Models