neurodegeneration with brain iron accumulation 6
ORPHA: 397725
Overview
neurodegeneration with brain iron accumulation that has material basis in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2
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 6, sourced from HPO and Orphanet clinical annotations.
Compulsive behaviorsDysarthriaGait disturbanceParkinsonismSpastic paraparesisAbnormal caudate nucleus morphologyAbnormal globus pallidus morphologyEye of the tiger anomaly of globus pallidusPeripheral axonal neuropathyAbnormal thalamus morphologyAbnormal corpus striatum morphologyOromandibular dystoniaCognitive impairment
Classification & Codes
Orphanet Code
ORPHA:397725neurodegeneration with brain iron accumulation 6
| Orphanet | ORPHA:397725 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO