Global Variome shared LOVD

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

Phenotype #0000339532 Individual ID 00450472 Associated disease ASAD Phenotype details Moderate intellectual disability Diagnosis/Initial Argininosuccinic aciduria Inheritance Familial, autosomal recessive Diagnosis/Definite argininosuccinic aciduria deficiency Age/Examination - Age/Diagnosis <00y00m02d Age/Onset - Phenotype/Onset - Protein - Owner name Miriam Erandi Reyna-Fabián Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Miriam Erandi Reyna-Fabián Date created 2024-05-28 00:53:19 +02:00 (CEST) Date last edited 2024-05-31 12:49:01 +02:00 (CEST)

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