Global Variome shared LOVD

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Phenotype #0000317704 Individual ID 00426549 Associated disease MDC Phenotype details 5m-head control, 8m-sit, 3y-walk; 8.5y-loss walking; contractures knee, ankle; 3y-lordosis; recurrent respiratory tract infection; 1d-feeding difficulty; no regular rehabilitation; no intellectual disability, no seizures; raised serum CK highest 10m-2025 U/L; EMG myopathic changes; MRI brain 10m-abnormal white matter hyperintensities Diagnosis/Initial congenital muscular dystrophy Diagnosis/Definite MDC1A Inheritance Familial, autosomal recessive Age/Examination 9.3y Age/Diagnosis - Age/Onset 3m Phenotype/Onset muscle weakness, hypotonia, weak cry 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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