Global Variome shared LOVD

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Phenotype #0000317640 Individual ID 00426485 Associated disease MDC Phenotype details 9m-sit; no contractures; no spinal deformity; 1d-feeding difficulty; no intellectual disability, no seizures; raised serum CK highest 3m-5354 U/L; EMG myopathic changes; MRI brain 4m-abnormal white matter hyperintensities Diagnosis/Initial congenital muscular dystrophy Diagnosis/Definite MDC1A Inheritance Familial, autosomal recessive Age/Examination 9m Age/Diagnosis - Age/Onset 1d Phenotype/Onset muscle weakness, hypotonia, weak cry, feeding difficulty 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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