Global Variome shared LOVD

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Phenotype #0000310384 Individual ID 00419096 Associated disease NEM2 Phenotype details Hypotonia (HP:0001252) since birth; classical myopathic facies (HP:0002058); proximal muscle weakness (HP:0003701) with mild respiratory involvement; EGM: myopathic abnormalities (HP:0003458); normal CK. Diagnosis/Initial Unspecified congenital myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite NEM2 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Lydia Sagath Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Lydia Sagath Date created 2022-10-17 11:12:31 +02:00 (CEST) Date last edited 2022-10-17 15:45:04 +02:00 (CEST)

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