Global Variome shared LOVD

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

Phenotype #0000156851 Individual ID 00037237 Associated disease ? Diagnosis/Initial hypotonia Diagnosis/Definite - Phenotype details severe hypotonia (on mechanical ventilation); high CK, dystrophic changes, some fibers with lipid accumulation and mosaic COX deficiency in muscle biopsy Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2015-04-02 13:01:39 +02:00 (CEST) Date last edited N/A

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