Global Variome shared LOVD

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Phenotype #0000350420 Individual ID 00464397 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Inheritance Isolated (sporadic) Phenotype details see paper; ..., (growth parameters); motor delay (HP:0001270); global developmental delay (HP:0001263); autism spectrum disorder (HP:0000729); speech delay (HP:0000750), 4y-20 words; 4y-seizures (HP:0001250); MRI brain normal; normal muscle tone; no facial dysmorphism; no cardiavacular anomalies; no skeletal anomalies; normal connective tissue; constipation, lennox-gastaut syndrome with multiple tonic seizure Age/Examination 12.5y 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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