Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000142010 Individual ID 00179552 Associated disease CDLS Phenotype details moderate CDLS; speech before 24m; facial anomalies; no facial cleft; genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; hirsutism; intra uterine growth retardation; small feet; small hands; mild mental retardation (IQ:50-80); microcephaly; sit before 9m; walking before 18m; severe post natal growth retardation; no urinary anomalies Diagnosis/Initial Cornelia de Lange syndrome Inheritance Isolated (sporadic) Diagnosis/Definite CDLS-1 Age/Examination 28y4m (28 years, 4 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Cristina Dias Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.