Global Variome shared LOVD

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Phenotype #0000351337 Individual ID 00465937 Associated disease NDD Diagnosis/Initial neurodegenerative delay Diagnosis/Definite DEDISB Phenotype details see paper; ..., motor delay; speech delay; severe delay; behavioral problems; psychomotor agitation; moderate intellectual disability; cerebellar ataxia; no neurosensory disorders; MRI thin corpus callosum; wide mouth, high forehead, low-set ears; no epilepsy Inheritance Isolated (sporadic) Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-06-20 11:45:26 +02:00 (CEST) Date last edited N/A

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