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autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome

ORPHA: 363429

Contents

  1. 1. Available Treatments
  2. 2. Clinical Presentation
  3. 3. Classification & Codes

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 cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome, sourced from HPO and Orphanet clinical annotations.

NystagmusOculomotor apraxiaProgressive cerebellar ataxiaAbnormal pyramidal signPtosisOptic disc pallorEsotropiaHypometric saccadesHorizontal nystagmusMild intellectual disabilityGlobal developmental delayGait disturbanceGeneralized hypotoniaDysmetriaGrowth delayRotary nystagmusPes planusDysdiadochokinesisVentriculomegalyBroad-based gaitSpastic dysarthriaShort statureProgressive truncal ataxiaProgressive gait ataxiaDiffuse cerebellar atrophyHyperreflexiaPoor speechMultiple joint contracturesBabinski signRetrocerebellar cystSevere intellectual disability

Classification & Codes

Orphanet Code

ORPHA:363429
autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
OrphanetORPHA:363429
Treatments0 drug(s)
Symptoms on record31 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome | OrphanDrug