Global Variome shared LOVD

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Phenotype #0000317756 Individual ID 00426601 Associated disease MDC Phenotype details 7m-head control, 1y-sit, 3y-walk; no motor regression; contractures knee, ankle; 6y-lordosis; no respiratory involvement; ECG normal; normal ultrasonic cardiogram; constipation; regular rehabilitation; no intellectual disability, no seizures; raised serum CK highest 8y-1800 U/L; EMG myopathic changes; MRI brain 8y-abnormal white matter hyperintensities Diagnosis/Initial congenital muscular dystrophy Diagnosis/Definite MDC1A Inheritance Familial, autosomal recessive Age/Examination 9.4y 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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