Global Variome shared LOVD

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Phenotype #0000357593 Individual ID 00472798 Associated disease ? Diagnosis/Initial intellectual disability, dysmorphism Diagnosis/Definite MRD56 Phenotype details see paper; ..., intellectual disability (IQ60-70), dysmorphism; global developmental delay, 2y6m-walk, <5y-first words; maladaptive behavior (aggressive, self-harm, violent outbursts, refusal to eat), G-tube placement; chronic constipation, seizures; hypertelorism, broad forehead, low posterior hairline, hypotonia Inheritance Isolated (sporadic) Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-02-28 13:45:36 +01:00 (CET) Date last edited N/A

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