Phenotype #0000142038

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00179580
Associated disease	CDLS
Phenotype details	severe CDLS; speech?; facial anomalies; gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; upper limb defect digit(s); severe mental retardation; microcephaly;
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
Created by	Jorge Oliveira
Date created	2009-03-16 11:19:51 +01:00 (CET)
Date last edited	2010-07-16 10:14:35 +02:00 (CEST)

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