Global Variome shared LOVD

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Phenotype #0000350430 Individual ID 00464407 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Inheritance Isolated (sporadic) Phenotype details see paper; ..., mild intellectual disability, mild dysmorphic features, motor delay childhood, low birth weight (-2SD); low adult height/weightOFC (10th centile); poor vision, cortical visual impairment Age/Examination 31y (31 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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