Global Variome shared LOVD

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Phenotype #0000141948 Individual ID 00179462 Associated disease CDLS Phenotype details mild; facial features; no facial cleft; no genital anomalies; Yc; no congenital heart defects; hirsutism; intrauterine growth retardation; post-natal growth retardation; lower limb defects small feet only; upper limb defects small hands only; no microcephaly; no urinary anomalies Diagnosis/Initial Cornelia de Lange syndrome Inheritance Unknown Diagnosis/Definite CDLS-2 Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Jorge Oliveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Jorge Oliveira Date created 2012-06-05 15:27:31 +02:00 (CEST) Date last edited N/A

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