Global Variome shared LOVD

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Phenotype #0000229834 Individual ID 00302752 Associated disease NBIA Phenotype details age at deterioration 25y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; Rett-like features; dystonia; Parkinsonism; l-DOPA responsive; limited expressive language; no sleep problems; EEG diffuse background slowing with bursts of generalized 3/s spike and wave discharges; staring, absence or atonic seizures; no ocular defects; T2 hypointense substantia nigra and globus pallidus (high iron); T1 hyperintense ‘halo’ midbrain; cerebral atrophy; no cerebellar atrophy Diagnosis/Initial neurodegeneration with brain iron accumulation Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 4y (4 years) Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-31 10:22:39 +02:00 (CEST) Date last edited N/A

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