neurodegeneration with brain iron accumulation 4
ORPHA: 289560
Overview
neurodegeneration with brain iron accumulation that has material basis in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12
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 4, sourced from HPO and Orphanet clinical annotations.
Atypical behaviorSpasticityDysarthriaMental deteriorationMuscle weaknessRigidityPostural instabilityHand tremorBabinski signUrinary incontinenceOptic atrophyGait disturbanceParkinsonismDystoniaDysphagiaBradykinesiaSpastic paraparesisFrequent fallsAbnormal globus pallidus morphologyBowel incontinenceHyperactive deep tendon reflexesMotor axonal neuropathyAbnormal substantia nigra morphologyAbnormal saccadic eye movementsShuffling gaitRespiratory insufficiency
Classification & Codes
Orphanet Code
ORPHA:289560neurodegeneration with brain iron accumulation 4
| Orphanet | ORPHA:289560 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO