ORPHA:247815
Autosomal recessive ataxia due to PEX10 deficiency
Also called Mild peroxisomal disorder due to PEX10 deficiency
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Adolescent, Childhood
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:247815 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Progressive cerebellar ataxia
- Motor axonal neuropathy
- Intellectual disability, mild
- Dysarthria
- Limb ataxia
- Truncal ataxia