Orphanet: Infantile spasms psychomotor retardation progressive brain atrophy basal ganglia disease syndrome
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Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome

Disease definition

Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome is a rare, genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy, and bilateral thalamic and basal ganglia lesions.

ORPHA:263410

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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