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Familial infantile bilateral striatal necrosis

Disease definition

Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.

ORPHA:225154

  • Synonym(s):
    • Familial IBSN
    • Familial infantile striatonigral degeneration
    • Familial infantile striatonigral necrosis
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive or Mitochondrial inheritance 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G23.2
  • OMIM: 271930  500003
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

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