Global Variome shared LOVD

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

Phenotype #0000124808 Individual ID 00152465 Associated disease MDC Phenotype details cerebellar CMD, contractures, hypertrophy, weakness upper limbs > lower limbs, microcepahly,; CPK 4700; intellectual disability (HP:0001249); onset infant; able to walk Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite - Inheritance Familial Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2008-01-27 22:24:07 +01:00 (CET) Date last edited 2012-03-09 19:03:40 +01:00 (CET)

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