Global Variome shared LOVD

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Phenotype #0000242022 Individual ID 00319920 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details severe intellectual disability, speech delay, delayed milestones, auto mutilation IV:1: mild hypotonia, aggressive, dysplastic, large ear. IV:2: Epilepsy Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-11-10 17:13:32 +01:00 (CET) Date last edited N/A

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