Global Variome shared LOVD

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Phenotype #0000142264 Individual ID 00179810 Associated disease CDLS Phenotype details moderate CDLS; DD and MR, unclassified; Bilateral cryptorchidism; speech?; facial anomalies; no facial cleft; genital anomalies; no gastro-esophageal reflux disease; congenital heart defects; hirsutism; intra uterine growth retardation; small hands; moderate mental retardation (IQ:35-50); no microcephaly; post natal growth retardation; no urinary anomalies Diagnosis/Initial Cornelia de Lange syndrome Inheritance Isolated (sporadic) Diagnosis/Definite CDLS-1 Age/Examination - 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 2010-04-09 16:55:08 +02:00 (CEST) Date last edited 2010-07-16 10:10:07 +02:00 (CEST)

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