Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000229895 Individual ID 00302813 Associated disease NBIA Phenotype details walk-3y; febrile convulsion at infant; no speech; cognitive dysfunction during childhood; developmental delay, intellectual disability; wheelchair bound; cognitive dysfunction; 29y-Parkinsonism, rigidity, no tremor; postural abnormality; dystonia; increasing deep tendon reflex; appearances of pathologic reflex; progressive dementia during adulthood; no psychiatric symptoms; epileptic seizure; good Levodopa responsive; Levodopa-induced dyskinesia; no RETT-like features; no sleep problems; no ocular defects Diagnosis/Initial neurodegeneration with brain iron accumulation Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 30y (30 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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