Global Variome shared LOVD

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Phenotype #0000229901 Individual ID 00302819 Associated disease NBIA Phenotype details walk-14m; febrile convulsion at infant; speech dysarthria, small voice; cognitive dysfunction during childhood; developmental delay, intellectual disability; gait possible; cognitive dysfunction; 39y-Parkinsonism, rigidity, no tremor; no postural abnormality; no dystonia; increasing deep tendon reflex; progressive dementia during adulthood; progressive dementia during adulthood; no psychiatric symptoms; no epileptic seizure; excellent Levodopa responsive; no Levodopa-induced dyskinesia; no RETT-like features; no sleep problems; no ocular defects; EEG normal; MRI brain T2 hypointense substantia nigra and globus pallidus (high iron), T1 hyperintense ‘halo’ in midbrain, no eye-of-the-tiger sign, no white matter involvement, no cerebral atrophy, no cerebellar atrophy, SPECT hypoperfusion occipital, no MIBG myocardial scintigraphy washout Diagnosis/Initial neurodegeneration with brain iron accumulation Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 41y (41 years) Age/Onset - Phenotype/Onset cognitive dysfunction Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-01 13:42:38 +02:00 (CEST) Date last edited N/A

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