Phenotype #0000142319

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00179865
Associated disease	CDLS
Phenotype details	severe CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; hirsutism; intra uterine growth retardation; small feet; upper limb defect digit(s); microcephaly; post natal growth retardation; no urinary anomalies
Diagnosis/Initial	Cornelia de Lange syndrome
Inheritance	Unknown
Diagnosis/Definite	CDLS-1
Age/Examination	8y (8 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Joao Silva
Database submission license
Created by	Jorge Oliveira
Date created	2011-12-15 16:00:43 +01:00 (CET)
Date last edited	2012-06-05 15:30:52 +02:00 (CEST)