Global Variome shared LOVD

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Phenotype #0000142337 Individual ID 00179883 Associated disease CDLS Phenotype details 13-year-old boy with pre and postnatal growth retardation, intellectual disability with speech and motor delay, typical facial features, aortic stenosis and hirsutism.; facial anomalies; congenital heart defects; hirsutism; intra uterine growth retardation; post natal growth retardation; Diagnosis/Initial Cornelia de Lange syndrome Inheritance Unknown Diagnosis/Definite CDLS-1 Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Cristina Dias Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Jorge Oliveira Date created 2017-05-27 17:56:54 +02:00 (CEST) Date last edited 2017-06-01 10:27:19 +02:00 (CEST)

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