Global Variome shared LOVD

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

Phenotype #0000105526 Individual ID 00132756 Associated disease NICCD Phenotype details severe anemia, hypergalactosaemia, citrullinaemia, hypermethioneamia; 2y-healthy with no treatment Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 02y (2 years) Age/Diagnosis - Age/Onset 00y00m42d Phenotype/Onset liver disease Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-11-04 14:08:07 +01:00 (CET) Date last edited N/A

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