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autosomal recessive ataxia due to PEX10 deficiency

ORPHA: 247815

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 autosomal recessive ataxia due to PEX10 deficiency, sourced from HPO and Orphanet clinical annotations.

Progressive cerebellar ataxiaMotor axonal neuropathyMild intellectual disabilityDysarthriaLimb ataxiaTruncal ataxiaProgressive gait ataxiaAbnormal pyramidal signImpaired smooth pursuitVery long chain fatty acid accumulationAbnormal circulating phytanic acid concentrationDiffuse cerebellar atrophyHyperreflexiaAbnormal head movementsType II diabetes mellitusMydriasisPes cavus

Classification & Codes

Orphanet Code

ORPHA:247815
autosomal recessive ataxia due to PEX10 deficiency
OrphanetORPHA:247815
Treatments0 drug(s)
Symptoms on record17 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO