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DO Term : neuronal ceroid lipofuscinosis 6A [DOID:0110729] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23.
  • synonyms:
  • ICD10CM:E75.4,
  • OMIM:601780,
  • 601780,
  • neuronal ceroid lipofuscinosis 6 variable age of onset,
  • ORDO:228363,
  • CLN6,
  • GARD:1224,
  • neuronal ceroid lipofuscinosis 6
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