Phenotype #0000141988

Global Variome shared LOVD

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

Individual ID	00179502
Associated disease	CDLS
Phenotype details	speech 2y-4y; facial features; intrauterine growth retardation; lower limb defects small feet only; upper limb defects small hands only; Mild intellectual disability (IQ:50-80)
Diagnosis/Initial	Cornelia de Lange syndrome
Inheritance	Isolated (sporadic)
Diagnosis/Definite	CDLS-2
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Bert Redeker
Database submission license	No license selected
Created by	Bert Redeker
Date created	2014-06-27 12:53:41 +02:00 (CEST)
Date last edited	N/A

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