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Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency

Disease definition

A rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.

ORPHA:363432

Classification level: Subtype of disorder
  • Synonym(s):
    • Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency
    • SCAR18
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G11.1
  • OMIM: 616204
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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