Global Variome shared LOVD

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Phenotype #0000350424 Individual ID 00464401 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Inheritance Familial, autosomal dominant Phenotype details see paper; ..., (growth parameters); motor delay (HP:0001270); moderate intellectual disability (HP:0002342) (IQ50); autism spectrum disorder (HP:0000729); no facial dysmorphism; Age/Examination 12y (12 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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