Phenotype #0000142264

Individual ID 00179810
Associated disease CDLS
Phenotype details moderate CDLS; DD and MR, unclassified; Bilateral cryptorchidism; speech?; facial anomalies; no facial cleft; genital anomalies; no gastro-esophageal reflux disease; congenital heart defects; hirsutism; intra uterine growth retardation; small hands; moderate mental retardation (IQ:35-50); no microcephaly; 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 2010-04-09 16:55:08 +02:00 (CEST)
Date last edited 2010-07-16 10:10:07 +02:00 (CEST)

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