Global Variome shared LOVD

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Phenotype #0000337116 Individual ID 00447924 Associated disease CSS Diagnosis/Initial Coffin-Siris Syndrome Diagnosis/Definite CSS6 Phenotype details see paper; ..., weight 3.1 kg,; feeding difficulties, GE reflux, on thickened feeds (resolved); no congenital heart disease; hypotonia; MRI brain normal; ADHD; 30m-walk; 54m-first words; strabismus; astigmatism; laryngomalacia; no cleft lip/palate; tracheomalacia, tympanostomy tubes; hip dysplasia; torticollis, plagiocephaly; short stature (9y-<1%); Inheritance Unknown Age/Examination 8y6m (8 years, 6 months) Age/Diagnosis 5y3m 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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