Global Variome shared LOVD

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Phenotype #0000284136 Individual ID 00390599 Associated disease MDDG Phenotype details limb-girdle muscular dystrophy; 1y7m-walk, 2y-run; contractures ankle; no intellectual disability; no seizures; CK level 3700 IU/L; MRI brain normal; EMG myogenic; muscle biopsy muscular dystrophy; ECG-normal; UCG-normal Diagnosis/Initial congenital muscular dystrophy, mental retardation Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 12y4m (12 years, 4 months) Age/Diagnosis - Age/Onset 2y5m Phenotype/Onset obvious muscle weakness after infection Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-11-10 16:44:31 +01:00 (CET) Date last edited N/A

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