Global Variome shared LOVD

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Phenotype #0000327676 Individual ID 00437767 Associated disease NEM2 Phenotype details areflexia (HP:0001284); weakness of facial musculature (HP:0030319); proximal muscle weakness (HP:0003701) Diagnosis/Initial Nemaline myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite NEM2 Age/Examination 7 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 2023-10-13 12:19:21 +02:00 (CEST) Date last edited 2023-10-31 14:56:37 +01:00 (CET)

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