Global Variome shared LOVD

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Phenotype #0000229840 Individual ID 00302758 Associated disease NBIA Phenotype details see paper; ..., moderate intellectual disability; behavioural problems; nonprogressive cognitive dysfunction during childhood; 33y start of progressive cognitive decline; autistic features in early age; walking with support; speech few words; no myopia; dystonia; Parkinsonism rigidity; EEG no epileptic seizures; urinary incontinence; CT cerebral atrophy Diagnosis/Initial neurodegeneration with brain iron accumulation Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 42y (42 years) Age/Onset - Phenotype/Onset psychomotor retardation 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 12:18:39 +02:00 (CEST) Date last edited N/A

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