Global Variome shared LOVD

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

Phenotype #0000231887 Individual ID 00306039 Associated disease MD Phenotype details max milestone 7y4m-sit; contractures ankle; lordosis; elevated CK level (highest 770 U/L); ECG normal; UCG-normal Diagnosis/Initial LMNA-related congenital muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite CMD Age/Examination 7y4m (7 years, 4 months) Age/Diagnosis - Age/Onset 6m 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 2020-07-07 09:28:36 +02:00 (CEST) Date last edited N/A

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