Global Variome shared LOVD

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Phenotype #0000350426 Individual ID 00464403 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Inheritance Isolated (sporadic) Phenotype details see paper; ..., (growth parameters); multiple food allergies with eczema; motor delay (HP:0001270), 3y-walk; Moderate intellectual disability (HP:0002342) (IQ50); 7y-stereotypy (HP:0000733) stopped; speech delay (HP:0000750), 7y-2-3 word sentences; no seizures; MRI brain normal; neonatal hypotonia; straight eyebrows, depressed nasal bridge; no cardiavacular anomalies; no skeletal anomalies; normal connective tissue; Age/Examination 7y (7 years) Age/Diagnosis - Age/Onset 2y 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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