Global Variome shared LOVD

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Phenotype #0000142018 Individual ID 00179560 Associated disease CDLS Phenotype details moderate CDLS; speech > 48m; facial anomalies; no facial cleft; no genital anomalies; previously gastro-esophageal reflux disease; congenital heart defects; no hirsutism; intra uterine growth retardation; small feet; small hands; severe mental retardation; microcephaly; walking 18m-42m; severe post natal growth retardation; no urinary anomalies Diagnosis/Initial Cornelia de Lange syndrome Inheritance Isolated (sporadic) Diagnosis/Definite CDLS-1 Age/Examination 7y1m (7 years, 1 month) 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 2008-12-22 13:58:26 +01:00 (CET) Date last edited 2010-07-16 10:12:52 +02:00 (CEST)

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