Global Variome shared LOVD

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Phenotype #0000350411 Individual ID 00464388 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Inheritance Unknown Phenotype details see paper; ..., (growth parameters); no feeding difficulties; gross and fine motor difficulties, 6.5m-craw, 13m-walk; intellectual disability (HP:0001249), SON-IQ 72, SON-RS 79, SON-PS 72: harmonic IQ profile; autism spectrum disorder (HP:0000729); delayed speech (HP:0000750); episode of trichotillomania Age/Examination 7y (7 years) Age/Diagnosis - Age/Onset 4y 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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