Global Variome shared LOVD

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Phenotype #0000350410 Individual ID 00464387 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Inheritance Isolated (sporadic) Phenotype details see paper; ..., (growth parameters); no feeding difficulties; normal motor abilities, 12m-walk, <4y-cycled; moderate intellectual disability (HP:0002342); autism spectrum disorder (HP:0000729); delayed speech (HP:0000750); no seizures; normal muscle tone; no facial dysmorphism; Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset - 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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