Global Variome shared LOVD

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Phenotype #0000142178 Individual ID 00179723 Associated disease CDLS Phenotype details moderate CDLS; speech > 48m; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; no lower limb defects; no upper limb defect; severe mental retardation; post natal growth retardation; no urinary anomalies Diagnosis/Initial Cornelia de Lange syndrome Inheritance Unknown Diagnosis/Definite CDLS-1 Age/Examination 16y (16 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 2009-04-13 18:43:06 +02:00 (CEST) Date last edited 2010-07-16 10:10:07 +02:00 (CEST)

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