Global Variome shared LOVD

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

Phenotype #0000045182 Individual ID 00058587 Associated disease NAGSD Phenotype details severe hyperammonemia stable at 6m with NCG treatment, death after stopping NCG elder brother died at 2y (no material or diagnosis) Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 00y02m Phenotype/Onset - Protein - Owner name Johannes Häberle Database submission license No license selected Created by Johannes Häberle Date created 2016-02-01 16:25:16 +01:00 (CET) Date last edited 2019-07-21 11:23:49 +02:00 (CEST)

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