Phenotype #0000229888

Individual ID 00302806
Associated disease NBIA
Phenotype details see paper; ..., 25y-progressive gait disturbance, dystonia, spasticity, dementia, hallucinations, MRI brain T2-signal hypointensity in globus pallidus and substantia nigra, progressive cerebral atrophy, EMG signs of proximal denervation
Diagnosis/Initial neurodegeneration with brain iron accumulation
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 74y (74 years)
Age/Onset 25y
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-06-01 11:51:13 +02:00 (CEST)
Date last edited N/A

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