Global Variome shared LOVD

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Phenotype #0000325048 Individual ID 00434807 Associated disease CSS Diagnosis/Initial Coffin-Siris syndrome Diagnosis/Definite - Phenotype details see paper; ..., atrioventricular canal defect; boirth 37w, small; dysmorphic features, hypoplasia fifth digits/nails; Morgagni-type diaphragmatic hernia, pyloric stenosis, sensorineural hearing loss; developmental delay, intellectual disability; 11m-sit Inheritance Isolated (sporadic) Age/Examination 06y (6 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 2023-04-07 15:16:46 +02:00 (CEST) Date last edited N/A

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