Global Variome shared LOVD

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

Phenotype #0000070124 Individual ID 00091680 Associated disease CA5AD Phenotype details neonatal hyperammonemia, hyperlactatemia, hypoglycemia; mild IDD; hyperammonemia, hyperlactatemia, hypoglycemia, PCC and 3MCC deficiency metabolites Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2016-12-12 22:51:50 +01:00 (CET) Date last edited N/A

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