Global Variome shared LOVD

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Phenotype #0000187367 Individual ID 00248373 Associated disease NDD Diagnosis/Initial Cornelia de Lange syndrome Diagnosis/Definite CHOPS Phenotype details proptotic appearance to eyes, eyebrows were thick with arch and synophrys, hypertelorism, thickened helices, short nose with upturn, long philtrum, thickened tongue, high narrow palate ; developmental delay; hearing loss; no cataract; Myopia and mild optic atrophy; Subglottic stenosis (grade 2-3) and tracheomalcia, laryngomalasia; chronic lung disease; tracheostomy; Aspiration pneumonia; VSD, PDA with repair, anomalous pulmonary vein; g astrostomy tube Nissen G-tube; reflux; cryptorchidism; bilateral ureteral reflux ; brachydactyly; Congenital fusion of vertebrae C2-C3 and a history of congenital hip subluxation bilaterally. ; hypoplastic changes of L1 and L2 with anterior beaking; no microcephaly; 8y-head circumference 3rd-10th percentile, weight <3rd percentile, height <3rd percentile; obesity; short stature; history of fungal sepsis 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 21:13:17 +02:00 (CEST)

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