leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome

ORPHA: 485421

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
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 leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome, sourced from HPO and Orphanet clinical annotations.

Nasogastric tube feedingGrowth delayEpileptic spasmVisual impairmentOptic disc pallorExternal ophthalmoplegiaOptic atrophyAbnormality of visual evoked potentialsAbnormal nonverbal communicative behaviorDecreased nerve conduction velocitySeizureSpasticityMotor delayCerebellar atrophyMuscle weaknessHyperreflexiaDysphagiaEEG abnormalityDevelopmental regressionHypsarrhythmiaFunctional motor deficitSecondary microcephalyAxial hypotoniaFeeding difficultiesAbnormal mitochondrial shapeAbnormal thalamic MRI signal intensityProfound global developmental delayAbnormal basal ganglia MRI signal intensityAuditory sensitivity

Classification & Codes

Orphanet Code

ORPHA:485421

leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome

Orphanet	`ORPHA:485421`
Treatments	0 drug(s)
Symptoms on record	29 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO