Global Variome shared LOVD

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

Phenotype #0000084484 Individual ID 00105904 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details generalized muscle wasting with distal tetraparesis,acute glaucoma, secondary myelin abnormalities Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Fabiana Fattori Database submission license No license selected Created by Johan den Dunnen Date created 2017-07-10 16:31:44 +02:00 (CEST) Date last edited N/A

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