Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000317731 Individual ID 00426576 Associated disease MDC Phenotype details 18y-died feeding difficulty; 6m-head control, 1.1y-sit; contractures knee, ankle, elbow, hip; 12y-scoliosis; 1d-respiratory difficulty; difficulty chewing, difficulty swallowing, constipation; no regular rehabilitation; intellectual disability, no seizures; raised serum CK highest 8m-9640 U/L; EMG 6m-myopathic changes; MRI brain 2y-abnormal white matter hyperintensities Diagnosis/Initial congenital muscular dystrophy Diagnosis/Definite MDC1A Inheritance Familial, autosomal recessive Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset 1d Phenotype/Onset respiratory difficulty Protein 1.3y-IHC no LAMA2 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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