Phenotype #0000142014

Individual ID 00179556
Associated disease CDLS
Phenotype details moderate CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; congenital heart defects; hirsutism; intra uterine growth retardation; small feet; small hands; severe mental retardation; microcephaly; sit 9m-2m; walking after 42m; severe post natal growth retardation; no urinary anomalies
Diagnosis/Initial Cornelia de Lange syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite CDLS-1
Age/Examination 4y10m (4 years, 10 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Cristina Dias
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Jorge Oliveira
Date created 2008-12-22 13:58:26 +01:00 (CET)
Date last edited 2010-07-16 10:12:52 +02:00 (CEST)

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