Global Variome shared LOVD

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Phenotype #0000187379 Individual ID 00248374 Associated disease NDD Diagnosis/Initial Cornelia de Lange syndrome Diagnosis/Definite CHOPS Phenotype details see paper; ..., Synophrys, upturned nose, arched eyebrows, thick ears posteriorly rotated; birth weight 1,757 g (−2.94 SD), height 43 cm (−2.98 SD); latest weight 15.6 kg (−2.1 SD) 6y, height 83.7 cm (−7.3 SD) 6y, head circumferance −3 SD 6y ; PDA, PFO, VSD; Congenital narrow oropharynx, laryngomalacia, chronic lung disease, RAD, tracheostomy, obstructive sleep apnea; No hearing loss; Brachydactyly, deformity and hypoplasia of the proximal radius and fibula bilaterally, focal lumbar kyphoscoliosis at the thoracolumbar junction; Mild grade I vesicoureteral reflux; G tube, constipation; Bilateral cataracts, eczema Inheritance Isolated (sporadic) Age/Examination 12y (12 years) 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 21:54:03 +02:00 (CEST) Date last edited N/A

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