Global Variome shared LOVD

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Phenotype #0000317687 Individual ID 00426532 Associated disease MDC Phenotype details 4m-head control, 6m-sit; no motor regression; contractures knee, ankle; no spinal deformity; 1y-2y-recurrent respiratory tract infection; ECG normal; ultrasonic cardiogram 5.3y-patent foramen ovale; 1d-feeding difficulty; regular rehabilitation; no intellectual disability, no seizures; raised serum CK highest 5m-3714 U/L; EMG 9m-myopathic changes, reduced motor nerve compound muscle action potential amplitude; MRI brain 5m-abnormal white matter hyperintensities; 3y-dislocation hip Diagnosis/Initial congenital muscular dystrophy Diagnosis/Definite MDC1A Inheritance Familial, autosomal recessive Age/Examination 6.5y 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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