neurodegeneration with brain iron accumulation 5
ORPHA: 329284
Overview
neurodegeneration with brain iron accumulation that has material basis in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23
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 5, sourced from HPO and Orphanet clinical annotations.
Abnormality of eye movementDementiaFrontal release signsIntellectual disabilityGlobal developmental delayCerebellar atrophyParkinsonismDystoniaTremorCerebral atrophyRigidityBradykinesiaSpastic paraparesisSleep disturbanceProgressive encephalopathyPoor speechAbnormal autonomic nervous system physiologyIron accumulation in brainIron accumulation in substantia nigraOptic atrophyAggressive behaviorSeizure
Classification & Codes
Orphanet Code
ORPHA:329284neurodegeneration with brain iron accumulation 5
| Orphanet | ORPHA:329284 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO