Phenotype #0000164534

Individual ID 00216082
Associated disease EDMD
Phenotype details cardiac problems, pacemaker; CPK elevated (HP:0003236) 582
Diagnosis/Initial Emery-Dreifuss muscular dystrophy
Inheritance Isolated (sporadic)
Diagnosis/Definite EDMD-1
Age/Examination -
Age/Onset 10y
Phenotype/Onset -
Protein IHC/WB no EMD
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2005-12-30 15:50:08 +01:00 (CET)
Date last edited 2012-03-09 19:08:25 +01:00 (CET)

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