Global Variome shared LOVD

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Phenotype #0000296914 Individual ID 00404326 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite - Phenotype details see paper; ..., developmental delay, intellectual disability, no autism spectrum disorder, seizures; MRI brain thin corpus callosum, paucity of periventricular white matter; attention deficit hyperactivity disorder, distal muscle atrophy in upper and lower extremities, hammertoes and high arches, EMG chronic motor-sensory polyneuropathy Inheritance Unknown Age/Examination 9y (9 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 2022-02-28 18:07:59 +01:00 (CET) Date last edited N/A

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