Global Variome shared LOVD

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Phenotype #0000317672 Individual ID 00426517 Associated disease MDC Phenotype details 2y-head control, 2y-sit; no motor regression; contractures knee, ankle, elbow, hip; no spinal deformity; no respiratory involvement; ECG normal; ultrasonic cardiogram 4m-patent foramen ovale; difficulty chewing; no regular rehabilitation; no intellectual disability, no seizures; raised serum CK highest 1.3y-3496 U/L; EMG 4m-myopathic changes; MRI brain 14m-abnormal white matter hyperintensities; MRI thigh muscle diffuse fatty infiltration; pectus carinatum Diagnosis/Initial congenital muscular dystrophy Diagnosis/Definite MDC1A Inheritance Familial, autosomal recessive Age/Examination 4.8y 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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