Global Variome shared LOVD

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Phenotype #0000142257 Individual ID 00179803 Associated disease CDLS Phenotype details mild CDLS; speech before 24m; facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; no congenital heart defects; hirsutism; no intra uterine growth retardation; no lower limb defects; no upper limb defect; microcephaly; sit 9m-2m; walking before 18m; post natal growth retardation; no urinary anomalies Diagnosis/Initial Cornelia de Lange syndrome Inheritance Isolated (sporadic) Diagnosis/Definite CDLS-1 Age/Examination 4y (4 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 2010-01-27 15:29:05 +01:00 (CET) Date last edited 2011-12-15 16:26:12 +01:00 (CET)

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