Phenotype #0000141985

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00179499
Associated disease	CDLS
Phenotype details	speech >4y; facial features; congenital heart defects; intrauterine growth retardation; no lower limb defects; no upper limb defects; severe intellectual disability; sit >20m
Diagnosis/Initial	Cornelia de Lange syndrome
Inheritance	Isolated (sporadic)
Diagnosis/Definite	CDLS-2
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Bert Redeker
Database submission license	No license selected
Created by	Bert Redeker
Date created	2014-06-27 11:29:19 +02:00 (CEST)
Date last edited	2014-06-27 13:55:11 +02:00 (CEST)

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