Phenotype #0000268837

Individual ID 00373563
Associated disease MD
Phenotype details 9y8m-walk; contractures elbow, ankle; lordosis; higherst CK level 927 (U/L); ECG sinus arrhythmia; UCG normal; EMG myogenic
Diagnosis/Initial Emery-Dreifuss muscular dystrophy
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 1y6m
Phenotype/Onset -
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 2021-05-17 11:33:20 +02:00 (CEST)
Date last edited N/A

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