Global Variome shared LOVD

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

Phenotype #0000334284 Individual ID 00445032 Associated disease MDDGB2 Phenotype details HP:0003560 Muscular dystrophy HP:0001263 Global developmental delay HP:0001319 Neonatal hypotonia HP:0003701 Proximal muscle weakness HP:0003236 Elevated circulating creatine kinase concentration HP:0030099 Reduced muscle fiber alpha dystroglycan Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite MDDGB2 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name María Eugenia Foncuberta Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by María Eugenia Foncuberta Date created 2024-01-02 15:15:18 +01:00 (CET) Date last edited 2024-01-03 12:26:28 +01:00 (CET)

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