Phenotype #0000142111

Individual ID 00179653
Associated disease CDLS
Phenotype details mild CDLS; Cleft palate; CHD: mitral valve prolapse; Mental retardation present (unspecified); Seizures.; facial anomalies; cleft palate; no genital anomalies; no gastro-esophageal reflux disease; congenital heart defects; no hirsutism; intra uterine growth retardation; small feet; small hands; moderate mental retardation (IQ:35-50); microcephaly; post natal growth retardation; no urinary anomalies
Diagnosis/Initial Cornelia de Lange syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite CDLS-1
Age/Examination 11y (11 years)
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 2009-04-07 17:19:27 +02:00 (CEST)
Date last edited 2010-07-16 17:48:24 +02:00 (CEST)

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