Phenotype #0000142257

Individual ID	00179803
Associated disease	CDLS
Phenotype details	mild CDLS; speech before 24m; facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; no congenital heart defects; hirsutism; no intra uterine growth retardation; no lower limb defects; no upper limb defect; microcephaly; sit 9m-2m; walking before 18m; post natal growth retardation; no urinary anomalies
Diagnosis/Initial	Cornelia de Lange syndrome
Inheritance	Isolated (sporadic)
Diagnosis/Definite	CDLS-1
Age/Examination	4y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Joao Silva
Database submission license
Created by	Jorge Oliveira
Date created	2010-01-27 15:29:05 +01:00 (CET)
Date last edited	2011-12-15 16:26:12 +01:00 (CET)

Global Variome shared LOVD