ORPHA:1171
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Also called CAPOS syndrome, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome
- Body system
- Neurological diseases
- Inheritance pattern
- Autosomal dominant, Mitochondrial inheritance
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:1171 is classified under "Neurological diseases" in the Orphanet nomenclature.
Common signs
- Sensorineural hearing impairment
- Optic atrophy
- Ataxia
- Areflexia
- Encephalopathy
- Muscle weakness