Phenotype #0000153631

Individual ID 00205454
Associated disease EDMD
Phenotype details muscle weakness/wasting UL (scapular) / LL (pelvic); rigid spine, stiff neck, contractures elbow/ankle/knees, muscle hypertrophy, dysphonia due to vocal cord palsy, swallowing difficulties; elevated serum creatine phosphokinase (HP:0003236) 2.3-3.7x
Diagnosis/Initial Emery-Dreifuss muscular dystrophy
Inheritance Familial
Diagnosis/Definite EDMD-6
Age/Examination -
Age/Onset 6y
Phenotype/Onset contractures elbows and Achilles tendons
Protein -
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 2009-09-11 20:47:21 +02:00 (CEST)
Date last edited 2012-03-04 15:57:33 +01:00 (CET)

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