Global Variome shared LOVD

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Phenotype #0000337112 Individual ID 00447920 Associated disease CSS Diagnosis/Initial Coffin-Siris Syndrome Diagnosis/Definite CSS6 Phenotype details see paper; ..., prenatal cystic hygroma noted, length; no congenital heart disease; hypotonia; no seizures; restless sleep; ADHD; 18m-walk; 18m-first words; strabismus; no cleft lip/palate; recurrent UTIs; short stature (7y-3rd); anxiety Inheritance Isolated (sporadic) Age/Examination 10y6m (10 years, 6 months) Age/Diagnosis 6y4m 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 2024-02-01 16:08:19 +01:00 (CET) Date last edited N/A

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