Global Variome shared LOVD

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

Phenotype #0000343414 Individual ID 00454803 Associated disease ? Diagnosis/Initial methionine synthase reductase deficiency Diagnosis/Definite HMAE Phenotype details onset 21d Inheritance Familial, autosomal recessive Age/Examination 25y (25 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-09-27 16:50:07 +02:00 (CEST) Date last edited N/A

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