ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
ORPHA: 370022
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 ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome, sourced from HPO and Orphanet clinical annotations.
AtaxiaDilated fourth ventricleModerate intellectual disabilityCerebellar cystCerebellar dysplasiaCognitive impairmentStrabismusMyopiaAmblyopiaOculomotor apraxiaRetinal atrophyGlobal developmental delayAbnormal brainstem morphologyInferior cerebellar vermis hypoplasiaElongated superior cerebellar peduncleHypermetropiaRetinal dystrophyNystagmusHypotoniaHead titubationElevated circulating creatine kinase concentrationDelayed speech and language development
Classification & Codes
Orphanet Code
ORPHA:370022ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
| Orphanet | ORPHA:370022 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO