Global Variome shared LOVD

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Phenotype #0000350421 Individual ID 00464398 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); global developmental delay (HP:0001263); hypertelorism (HP:0000316), flat broad nosebridge (HP:0000431); Age/Examination 18y (18 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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