Phenotype #0000142172

Individual ID	00179717
Associated disease	CDLS
Phenotype details	moderate CDLS; Limb reduction, unspecified; speech?; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; congenital heart defects; no intra uterine growth retardation; upper limb defect hands; moderate mental retardation (IQ:35-50); post natal growth retardation; urinary anomalies
Diagnosis/Initial	Cornelia de Lange syndrome
Inheritance	Unknown
Diagnosis/Definite	CDLS-1
Age/Examination	4y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Cristina Dias
Database submission license
Created by	Jorge Oliveira
Date created	2009-04-13 18:43:06 +02:00 (CEST)
Date last edited	2010-07-16 10:10:07 +02:00 (CEST)

Global Variome shared LOVD