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cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

MeSH: C535351ORPHA: 1171

Contents

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

Overview

medical condition

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-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, sourced from HPO and Orphanet clinical annotations.

Sensorineural hearing impairmentOptic atrophyAtaxiaAreflexiaEncephalopathyMuscle weaknessAbnormality of eye movementAutistic behaviorSeizureDystoniaPes cavusDysphagiaCognitive impairment

Classification & Codes

MeSH Code

C535351

Orphanet Code

ORPHA:1171
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
MeSHC535351
OrphanetORPHA:1171
Treatments0 drug(s)
Symptoms on record13 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO