Global Variome shared LOVD

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

Phenotype #0000188406 Individual ID 00249441 Associated disease ECYT8 Phenotype details Bisphosphoglycerate mutase deficiency Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 42y Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license No license selected Created by Celeste Bento Date created 2012-09-05 13:59:21 +02:00 (CEST) Date last edited N/A

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