Global Variome shared LOVD

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

Phenotype #0000045177 Individual ID 00058582 Associated disease NAGSD Phenotype details vomitting, failure to thrive, hepatomegaly, recurrent asymptomatic hyperammonemia, normal at y5 with benzoate, citrulline and protein restriction Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 00y00m20d Phenotype/Onset - Protein - Owner name Johannes Häberle Database submission license No license selected Created by Johannes Häberle Date created 2016-02-01 16:06:40 +01:00 (CET) Date last edited 2019-07-21 11:15:59 +02:00 (CEST)

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