Global Variome shared LOVD

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Phenotype #0000317633 Individual ID 00426479 Associated disease NEM2 Phenotype details HP:0001290 Generalized hypotonia HP:0001270 Motor delay HP:0003327 Axial muscle weakness HP:0003325 Limb-girdle muscle weakness (shoulder girdles predominance) HP:0003307 Hyperlordosis Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite NEM2 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 2022-12-01 16:06:39 +01:00 (CET) Date last edited 2022-12-05 16:29:09 +01:00 (CET)

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