Global Variome shared LOVD

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Phenotype #0000317716 Individual ID 00426561 Associated disease MDC Phenotype details 8m-head control, 14m-sit, 4y-walk; 11y-loss walking; contractures knee, ankle, elbow, hip; 6y-spinal ankylosis; no respiratory involvement; 1d-feeding difficulty; difficulty chewing; no regular rehabilitation; no intellectual disability, no seizures; raised serum CK highest 1.3y-1899 U/L; EMG myopathic changes; MRI brain 2y-abnormal white matter hyperintensities, occipital pachygyria Diagnosis/Initial congenital muscular dystrophy Diagnosis/Definite MDC1A Inheritance Familial, autosomal recessive Age/Examination 11.8y Age/Diagnosis - Age/Onset 1d Phenotype/Onset muscle weakness, hypotonia, 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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