ORPHA:324262

Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency

Also called Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency, Autosomal recessive spinocerebellar ataxia type 13, SCAR13

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:324262 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.