Global Variome shared LOVD

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

Phenotype #0000349739 Individual ID 00462238 Associated disease CMYO3;RSMD1 Diagnosis/Initial - Diagnosis/Definite - Phenotype details Myopathy, Proximal muscle weakness, Gowers sign, Restrictive ventilatory defect Inheritance Familial, autosomal recessive Age/Examination 22y (22 years) Age/Diagnosis - Age/Onset 03y Phenotype/Onset - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2025-02-06 12:38:21 +01:00 (CET) Date last edited 2025-02-07 14:53:24 +01:00 (CET)

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