Phenotype #0000142016

Individual ID 00179558
Associated disease CDLS
Phenotype details moderate CDLS; speech 24m-48m; facial anomalies; no facial cleft; no genital anomalies; previously gastro-esophageal reflux disease; no congenital heart defects; no hirsutism; intra uterine growth retardation; no lower limb defects; small hands; mild mental retardation (IQ:50-80); microcephaly; walking 18m-42m; mild post natal growth retardation; no urinary anomalies
Diagnosis/Initial Cornelia de Lange syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite CDLS-1
Age/Examination -
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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