Global Variome shared LOVD

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Phenotype #0000317720 Individual ID 00426565 Associated disease MDC Phenotype details 2y-head control, 1y-sit; no motor regression; contractures knee, ankle, elbow; 9y-scoliosis; no respiratory involvement; no feeding difficulty; no regular rehabilitation; no intellectual disability, no seizures; raised serum CK highest 3y-3008 U/L; MRI brain 2.8y-abnormal white matter hyperintensities Diagnosis/Initial congenital muscular dystrophy Diagnosis/Definite MDC1A Inheritance Familial, autosomal recessive Age/Examination 13y (13 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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