Global Variome shared LOVD

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Phenotype #0000142109 Individual ID 00179651 Associated disease CDLS Phenotype details mild CDLS; MR present, unspecified.; speech 24m-48m; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; hirsutism; no intra uterine growth retardation; no lower limb defects; small hands; moderate mental retardation (IQ:35-50); no microcephaly; sit 9m-2m; walking 18m-42m; post natal growth retardation; no urinary anomalies Diagnosis/Initial Cornelia de Lange syndrome Inheritance Familial Diagnosis/Definite CDLS-1 Age/Examination 3y4m (3 years, 4 months) 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 2009-04-07 16:45:04 +02:00 (CEST) Date last edited 2010-07-16 10:10:07 +02:00 (CEST)

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