Global Variome shared LOVD

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Phenotype #0000350399 Individual ID 00464376 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Inheritance Isolated (sporadic) Phenotype details see paper; ..., (growth parameters); global developmental delay (HP:0001263); moderate intellectual disability (HP:0002342); autism spectrum disorder (HP:0000729); absent speech (HP:0001344); no seizures; MRI brain normal; mild dysmorphia (HP:0001999); Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset 5y 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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