Terminology Service for NFDI4Health

neuronal ceroid lipofuscinosis 11

Go to external page http://purl.obolibrary.org/obo/DOID_0110732


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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

neuronal ceroid lipofuscinosis 11

Synonyms
  • CLN11
database cross reference
has obo namespace

disease_ontology

id

DOID:0110732