Global Variome shared LOVD

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

Phenotype #0000268814 Individual ID 00373540 Associated disease MD Phenotype details 10y7m-sit; contractures ankle, knee, hip; lordosis; higherst CK level 882 (U/L); ECG normal; UCG normal; EMG myogenic; 1.5y-muscle biopsy dystrophic, inflammatory change Diagnosis/Initial congenital muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 1d 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 2021-05-17 11:33:20 +02:00 (CEST) Date last edited N/A

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