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cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1

ORPHA: 1766

Contents

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

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 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1, sourced from HPO and Orphanet clinical annotations.

Abnormality of the eyeStrabismusAbnormality of visionCataractIntellectual disabilitySeizureAtaxiaHypotoniaGait disturbanceHyperreflexiaSkeletal muscle atrophyShort statureCerebral palsyAbnormality of movement

Classification & Codes

Orphanet Code

ORPHA:1766
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
OrphanetORPHA:1766
Treatments0 drug(s)
Symptoms on record14 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | OrphanDrug