neurodegeneration with brain iron accumulation 2A
ORPHA: 35069
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 neurodegeneration with brain iron accumulation 2A, sourced from HPO and Orphanet clinical annotations.
Cerebellar atrophyPsychomotor deteriorationDevelopmental regressionOptic atrophyAbnormality of visual evoked potentialsAtaxiaMental deteriorationSpastic tetraparesisHyperreflexiaProgressive spasticityUnsteady gaitEye of the tiger anomaly of globus pallidusBulbar signsAbnormal cerebral white matter morphologyAbnormality of peripheral nerve conductionDiffuse axonal swellingEMG: chronic denervation signsPeripheral axonal neuropathySensorimotor neuropathyAbnormal pyramidal signAxial hypotoniaPeripheral neuropathyIron accumulation in brainCerebellar gliosisIncreased circulating lactate dehydrogenase concentrationStrabismusBlindnessNystagmusAtypical behaviorEmotional labilityAutistic behaviorShort attention spanDelayed speech and language developmentHyperactivitySpasticityDysarthriaGait disturbanceDystoniaFlexion contractureConstipationDroolingTemperature instabilityAspiration pneumoniaPendular nystagmusAbnormal autonomic nervous system physiologyImpulsivitySeizureApneic episodes in infancyDownbeat nystagmusUpgaze palsyChoking episodesVegetative state
Classification & Codes
Orphanet Code
ORPHA:35069neurodegeneration with brain iron accumulation 2A
| Orphanet | ORPHA:35069 |
| Treatments | 0 drug(s) |
| Symptoms on record | 52 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO