autosomal recessive spinocerebellar ataxia 20
ORPHA: 397709
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with autosomal recessive spinocerebellar ataxia 20, sourced from HPO and Orphanet clinical annotations.
Coarse facial featuresDelayed speech and language developmentDelayed gross motor developmentAplasia/Hypoplasia of the cerebellumDelayed fine motor developmentSevere intellectual disabilitySevere global developmental delayMacroglossiaSensorineural hearing impairmentNystagmusAutistic behaviorAtaxiaHypotoniaAbsent speechFrontal bossingBroad-based gaitKyphoscoliosisRelative macrocephalyAbnormal skeletal morphologyPalpebral edemaHigh palateBroad philtrumFull cheeksPointed chinLong philtrumSmall foreheadWide nasal bridgeTelecanthusDental crowdingPectus carinatumBrachydactylySeizureSpasticityHyporeflexiaHepatosplenomegalyAtrial septal defectPatent ductus arteriosusTalipes equinovarusDeep philtrumApraxiaFacial hypertrichosisAbnormal cerebral white matter morphologyThickened calvariaBabinski signDepressed nasal bridgeRetrocerebellar cystNeuropathic spinal arthropathyOligosacchariduriaHypoplasia of the ponsCamptodactylyThick vermilion borderShort palpebral fissureWide nasal baseClinodactyly
Classification & Codes
Orphanet Code
ORPHA:397709autosomal recessive spinocerebellar ataxia 20
| Orphanet | ORPHA:397709 |
| Treatments | 0 drug(s) |
| Symptoms on record | 54 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO