Global Variome shared LOVD

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Phenotype #0000324897 Individual ID 00434647 Associated disease CSS Diagnosis/Initial Coffin-Siris syndrome Diagnosis/Definite CSS8 Phenotype details see paper; ..., feeding difficulty, dysphagia, vomiting, hypotonia, delayed mental development Inheritance Isolated (sporadic) Age/Examination 28y (28 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 2023-04-06 11:15:02 +02:00 (CEST) Date last edited N/A

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