Global Variome shared LOVD

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

Phenotype #0000124831 Individual ID 00152488 Associated disease MDC Phenotype details Microcephaly; White matter abnormalities; CPK increased; intellectual disability (HP:0001249); onset neonatal; able to sit Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite - Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset congenital hypotonia Protein IHC: alfa-DAG reduced Owner name Rosário dos Santos Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-02-27 14:46:24 +01:00 (CET) Date last edited 2012-03-09 18:27:00 +01:00 (CET)

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