Global Variome shared LOVD

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Phenotype #0000229900 Individual ID 00302818 Associated disease NBIA Phenotype details walk-15m; no febrile convulsion at infant; no speech; cognitive dysfunction during childhood; developmental delay, intellectual disability; gait possible; cognitive dysfunction; 28y-Parkinsonism, rigidity, tremor; postural abnormality; dystonia; no increasing deep tendon reflex; appearances of pathologic reflex; progressive dementia during adulthood; no psychiatric symptoms; no epileptic seizure; excellent Levodopa responsive; Levodopa-induced dyskinesia; no RETT-like features; sleep problems; no ocular defects; EEG abnormal; 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, cerebral atrophy hemisphere (rt > lt), cerebellar atrophy, SPECT hypoperfusion rigth hemisphere, no MIBG myocardial scintigraphy washout Diagnosis/Initial neurodegeneration with brain iron accumulation Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 33y (33 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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