Phenotype #0000142024

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00179566
Associated disease	CDLS
Phenotype details	severe CDLS; speech?; facial anomalies; no facial cleft; genital anomalies; congenital heart defects; hirsutism; intra uterine growth retardation; no lower limb defects; no upper limb defect; microcephaly;
Diagnosis/Initial	Cornelia de Lange syndrome
Inheritance	Isolated (sporadic)
Diagnosis/Definite	CDLS-1
Age/Examination	1m
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Cristina Dias
Database submission license
Created by	Jorge Oliveira
Date created	2009-02-26 16:26:50 +01:00 (CET)
Date last edited	2010-07-16 10:12:52 +02:00 (CEST)

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