ORPHA:363429
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
- 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:363429 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Nystagmus
- Oculomotor apraxia
- Progressive cerebellar ataxia
- Abnormal pyramidal sign
- Ptosis
- Optic disc pallor