Global Variome shared LOVD

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Phenotype #0000142319 Individual ID 00179865 Associated disease CDLS Phenotype details severe CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; hirsutism; intra uterine growth retardation; small feet; upper limb defect digit(s); microcephaly; post natal growth retardation; no urinary anomalies Diagnosis/Initial Cornelia de Lange syndrome Inheritance Unknown Diagnosis/Definite CDLS-1 Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Joao Silva Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Jorge Oliveira Date created 2011-12-15 16:00:43 +01:00 (CET) Date last edited 2012-06-05 15:30:52 +02:00 (CEST)

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