Global Variome shared LOVD

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

Phenotype #0000355732 Individual ID 00470845 Associated disease ? Diagnosis/Initial hyperammonemia, metabolic acidosis Diagnosis/Definite CA5AD Phenotype details hyperammonemia, metabolic acidosis Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Nicole Legro Database submission license No license selected Created by Nicole Legro Date created 2025-12-11 20:45:11 +01:00 (CET) Date last edited 2025-12-12 14:28:01 +01:00 (CET)

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