Global Variome shared LOVD

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Phenotype #0000350402 Individual ID 00464379 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Inheritance Unknown Phenotype details see paper; ..., (growth parameters); 3y-difficulties with solid food, now resolved; global developmental delay (HP:0001263); global developmental delay (HP:0001263); autism spectrum disorders (HP:0000729), highly anxious, uncomfortable with touch; absent speech (HP:0001344), babbling only; no seizures; MRI brain normal; low mucle tone; no cardiavacular anomalies; no skeletal anomalies; normal connective tissue; externally rotated left leg. toe-walks, hyperextends knees, decreasing exercise tolerance Age/Examination 13y (13 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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