Global Variome shared LOVD

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

Phenotype #0000153469 Individual ID 00205275 Associated disease MDC Phenotype details intellectual disability (HP:0001249); elevated serum creatine phosphokinase (HP:003236) 190-2676; floppy at birth; cardiomyopathy; no skin change; muscle (1y2m)-necrotic fiber, regenerative fiber, endomysial fibrosis, mitochondrial enlargement; seizures; walk 1y9m Diagnosis/Initial congenital muscular dystrophy Diagnosis/Definite MDCMC Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein no detectable CHK activity muscle Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2011-06-28 16:30:12 +02:00 (CEST) Date last edited 2013-02-01 19:44:08 +01:00 (CET)

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