Global Variome shared LOVD

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

Phenotype #0000142015 Individual ID 00179557 Associated disease CDLS Phenotype details moderate CDLS; speech?; facial anomalies; cleft palate; no genital anomalies; gastro-esophageal reflux disease; congenital heart defects; hirsutism; intra uterine growth retardation; small feet; small hands; severe mental retardation; microcephaly; sit after 20m; mild post natal growth retardation; no urinary anomalies Diagnosis/Initial Cornelia de Lange syndrome Inheritance Isolated (sporadic) Diagnosis/Definite CDLS-1 Age/Examination 21y11m (21 years, 11 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 17:54:51 +02:00 (CEST)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.