Global Variome shared LOVD

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Phenotype #0000350427 Individual ID 00464404 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Inheritance Isolated (sporadic) Phenotype details see paper; ..., (growth parameters); motor delay (HP:0001270); Moderate intellectual disability (HP:0002342) (IQ50); implusive (HP:0100710) and obsessive; speech delay (HP:0000750); no seizures; normal muscle tone; epicanthus inversus (HP:0000537), smooth philtrum (HP:0000319); no cardiavacular anomalies; no skeletal anomalies; normal connective tissue; prematurity Age/Examination 2y (2 years) Age/Diagnosis - Age/Onset 1y 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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