Global Variome shared LOVD

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Phenotype #0000229739 Individual ID 00302658 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ... Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Emanuela Leonardi Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-27 13:42:40 +02:00 (CEST) Date last edited N/A

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