Global Variome shared LOVD

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Phenotype #0000350406 Individual ID 00464383 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Inheritance Unknown Phenotype details see paper; ..., (growth parameters); mild-borderline intellectual disability; ADHD; normal muscle tone; no facial dysmorphism; no cardiavacular anomalies; no skeletal anomalies; normal connective tissue; marked hypersomnolence in early years, upper airway obstruction, central and obstructive sleep apnoea Age/Examination 11y (11 years) 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 2025-03-08 17:44:25 +01:00 (CET) Date last edited N/A

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