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AttributesValues
rdf:type
rdfs:label
  • West Syndrome
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • West Syndrome
UMLS_CUI
  • C0037769
FULL_SYN
  • West SyndromePTNCI
  • Infantile SpasmSYNCI
DEFINITION
  • A rare autosomal recessive inherited neurodegenerative disorder caused by mutations in the PLA2G6 gene. It is characterized by the development of swellings called spheroids along the axons of the central nervous system. Signs and symptoms appear early in life and include movement difficulties, muscle hypotonia and spasticity, and dementia.NCI
code
  • C84788
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