Global Variome shared LOVD

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Phenotype #0000187368 Individual ID 00248374 Associated disease NDD Diagnosis/Initial Cornelia de Lange syndrome Diagnosis/Definite CHOPS Phenotype details round face, synorphyrys, downturn corners mouth, curly hair; developmental delay; cataract; Congenital narrow oropharyinx and laryngomalacia; chronic lung disease; no tracheostomy; Obstructive sleep apnea; PDA, PFO, and VSD; gastrostomy tube; vesico-ureteral reflux; brachydactyly appears on pictures; microcephaly; 6y-head circumference <3rd percentile, weight <3rd percentile, height <3rd percentile; obesity; short stature; Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-07-22 21:05:19 +02:00 (CEST) Date last edited 2019-07-22 21:13:55 +02:00 (CEST)

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