Global Variome shared LOVD

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

Phenotype #0000346536 Individual ID 00458089 Associated disease MDDGB2 Phenotype details HP:0001385 Hip dysplasia (3 m), HP:0001319 Neonatal hypotonia, HP:0003560 Global developmental delay, HP:0003701 Proximal muscle weakness, HP:0003236 Elevated circulating creatine kinase concentration, HP:0000252 microcephaly; HP:0030099 Reduced muscle fiber alpha dystroglycan in her sister muscle biospy Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite MDDGB2 Age/Examination 01y07m (1 year, 7 months) 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 2024-11-28 18:53:25 +01:00 (CET) Date last edited 2024-12-03 09:41:59 +01:00 (CET)

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