ORPHA:363432

Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency

Also called Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency, SCAR18

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:363432 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.