Global Variome shared LOVD

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Phenotype #0000317680 Individual ID 00426525 Associated disease MDC Phenotype details 8m-head control, 1y-sit, 2.5y-walk; no motor regression; contractures ankle; no spinal deformity; 4y-recurrent respiratory tract infection; ECG normal; normal ultrasonic cardiogram; no feeding difficulty; regular rehabilitation; no intellectual disability, no seizures; raised serum CK highest 4.7y-2500 U/L; EMG 1.4y-myopathic changes; MRI brain 4.1y-abnormal white matter hyperintensities Diagnosis/Initial congenital muscular dystrophy Diagnosis/Definite MDC1A Inheritance Familial, autosomal recessive Age/Examination 6y (6 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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