Phenotype #0000142109

Individual ID	00179651
Associated disease	CDLS
Phenotype details	mild CDLS; MR present, unspecified.; speech 24m-48m; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; hirsutism; no intra uterine growth retardation; no lower limb defects; small hands; moderate mental retardation (IQ:35-50); no microcephaly; sit 9m-2m; walking 18m-42m; post natal growth retardation; no urinary anomalies
Diagnosis/Initial	Cornelia de Lange syndrome
Inheritance	Familial
Diagnosis/Definite	CDLS-1
Age/Examination	3y4m (3 years, 4 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Cristina Dias
Database submission license
Created by	Jorge Oliveira
Date created	2009-04-07 16:45:04 +02:00 (CEST)
Date last edited	2010-07-16 10:10:07 +02:00 (CEST)

Global Variome shared LOVD