Global Variome shared LOVD

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Phenotype #0000351417 Individual ID 00466033 Associated disease RSTS Diagnosis/Initial Rubinstein-Taybi syndrome Diagnosis/Definite RSTS2 Phenotype details see paper; ..., growth retardation; birth-35w, weight 3.0 kg, hypoxia. asphyxia Inheritance Isolated (sporadic) Age/Examination 10y07m (10 years, 7 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-07-08 15:37:41 +02:00 (CEST) Date last edited 2025-07-08 15:45:12 +02:00 (CEST)

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