Global Variome shared LOVD

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

Phenotype #0000124807 Individual ID 00152464 Associated disease MDC Phenotype details hypertrophy, spine unaffected, weakness upper limbs > lower limbs, myopia, no microcepahly, WM, CDys, CC, PMG; intellectual disability (HP:0001249); able to walk Diagnosis/Initial MEB;muscular dystrophy, congenital, Fukuyama type (FCMD); muscular dystrophy, congenital Diagnosis/Definite - Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset 8m 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 2013-02-01 19:44:12 +01:00 (CET)

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