Global Variome shared LOVD

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Phenotype #0000292323 Individual ID 00231372 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite NEDLIB Inheritance Isolated (sporadic) Phenotype details OFC 10th; developmental delayFocal, tonic-clonic; tonic-clonic seizures; autism spectrum disorder; no Rett syndrome like features; no speech; brain MRI brain/cerebellar atrophy; spasticity, chorea Age/Examination 05y (5 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 14:39:56 +01:00 (CET) Date last edited N/A

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