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Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
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
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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