Phenotype #0000142018

Individual ID 00179560
Associated disease CDLS
Phenotype details moderate CDLS; speech > 48m; facial anomalies; no facial cleft; no genital anomalies; previously gastro-esophageal reflux disease; congenital heart defects; no hirsutism; intra uterine growth retardation; small feet; small hands; severe mental retardation; microcephaly; walking 18m-42m; severe post natal growth retardation; no urinary anomalies
Diagnosis/Initial Cornelia de Lange syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite CDLS-1
Age/Examination 7y1m (7 years, 1 month)
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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