Global Variome shared LOVD

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Phenotype #0000317762 Individual ID 00426607 Associated disease MDC Phenotype details 13y-died severe pneumonia; 10m-sit; contractures knee, ankle, elbow; 8y-scoliosis; recurrent respiratory tract infection, severe pneumonia; no intellectual disability, no seizures; MRI brain abnormal white matter hyperintensities Diagnosis/Initial congenital muscular dystrophy Diagnosis/Definite MDC1A Inheritance Familial, autosomal recessive Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset 1d Phenotype/Onset muscle weakness, hypotonia Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-12-01 16:50:45 +01:00 (CET) Date last edited N/A

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