Global Variome shared LOVD

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

Phenotype #0000187314 Individual ID 00248305 Associated disease NAGSD Phenotype details Index: 3d-onset hyperammonemic coma; 6m-death: Sibling and relative: genetic demonstration and NCG treated before symptoms developed Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite NAGSD Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johannes Häberle Database submission license No license selected Created by Johannes Häberle Date created 2016-02-01 11:59:30 +01:00 (CET) Date last edited N/A

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