Global Variome shared LOVD

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Phenotype #0000185034 Individual ID 00222802 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details developmental delay, autism spectrum disorder, seizures; hypotonia, failure to thrive; 16y-deceased Inheritance Unknown Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Elena Repnikova Database submission license No license selected Created by Johan den Dunnen Date created 2019-07-01 19:06:49 +02:00 (CEST) Date last edited N/A

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