Global Variome shared LOVD

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

Phenotype #0000340273 Individual ID 00451598 Associated disease ACADSD Phenotype details Blue sclerae Diagnosis/Initial Acyl-CoA dehydrogenase, medium chain, deficiency of Inheritance Familial, autosomal recessive Diagnosis/Definite Acyl-CoA dehydrogenase, medium chain, deficiency of Age/Examination - Age/Diagnosis 00y00m11d 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 2024-06-12 19:25:16 +02:00 (CEST) Date last edited 2024-06-24 17:11:22 +02:00 (CEST)

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