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Metadata
ID DOID:0110732
Name 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.
https://www.ncbi.nlm.nih.gov/pubmed/22608501
Xrefs

ICD10CM:E75.4

OMIM:614706

ORDO:314629

Subsets

DO_rare_slim

Synonyms

CLN11 [EXACT]

Parent Relationships

is_a neuronal ceroid lipofuscinosis

is_a autosomal recessive disease

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