Global Variome shared LOVD

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Phenotype #0000231900 Individual ID 00306052 Associated disease MD Phenotype details max milestone 5y5m-walk; no contractures; lordosis; elevated CK level (highest 723 U/L); ECG normal; UCG-normal Diagnosis/Initial LMNA-related congenital muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite CMD Age/Examination 5y5m (5 years, 5 months) 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 2020-07-07 09:28:36 +02:00 (CEST) Date last edited N/A

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