Global Variome shared LOVD

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Phenotype #0000337114 Individual ID 00447922 Associated disease CSS Diagnosis/Initial Coffin-Siris Syndrome Diagnosis/Definite CSS6 Phenotype details see paper; ..., birth 41w, weight 2.8 kg (10th%–25th%),; no congenital heart disease; hypotonia; no seizures; MRI brain normal; no autism; 33m-walk; 6y-first words; mild hyperopia, strabismus; no cleft lip/palate; coxa valga significantly delayed bone age (3-6m at 2y7m); genitourinary reflux; short stature; 5th digit anomalies; Inheritance Unknown Age/Examination 6y6m (6 years, 6 months) Age/Diagnosis 2y3m 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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