Global Variome shared LOVD

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Phenotype #0000350415 Individual ID 00464392 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Inheritance Isolated (sporadic) Phenotype details see paper; ..., (growth parameters); initial feeding difficulties; motor delay (HP:0001270), 18m-walk; no seizures; no facial dysmorphism; no cardiavacular anomalies; eczema; obesity (HP:0001513) Age/Examination 11y (11 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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