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DO Term : neuronal ceroid lipofuscinosis 6B [DOID:0110730] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23.
  • synonyms:
  • ORDO:228340,
  • CLN4A,
  • OMIM:204300,
  • 204300,
  • autosomal recessive neuronal ceroid lipofuscinosis 4A,
  • ICD10CM:E75.4,
  • neuronal ceroid lipofuscinosis 4A
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