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DO Term : neuronal ceroid lipofuscinosis 8 northern epilepsy variant [DOID:0110724] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23.
  • synonyms:
  • progressive epilepsy with mental retardation, northern epilepsy,
  • northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant,
  • 610003,
  • EPMR,
  • ORDO:1947,
  • progressive epilepsy-intellectual disability syndrome, Finnish type,
  • GARD:4010,
  • GARD:2163,
  • OMIM:610003,
  • ICD10CM:E75.4
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