Global Variome shared LOVD

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Phenotype #0000292318 Individual ID 00231365 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite NEDLIB Inheritance Isolated (sporadic) Phenotype details OFC <3rd; developmental delay; intellectual disability; focal seizures, clonic seizures; no autism spectrum disorder; head growth deceleration; no speech; brain MRI cerebellar atrophy; dystonia, dyskinesia Age/Examination 03y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution 4.0 International Created by Johan den Dunnen Date created 2022-01-17 14:33:32 +01:00 (CET) Date last edited N/A

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