Global Variome shared LOVD

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Phenotype #0000350419 Individual ID 00464396 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Inheritance Unknown Phenotype details see paper; ..., (growth parameters); fine motor coordination problems; intellectual disability; mild speech delay (HP:0000750); seizures; no facial dysmorphism; inguinal hernia Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset 9m 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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