Global Variome shared LOVD

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

Phenotype #0000346043 Individual ID 00457579 Associated disease ? Diagnosis/Initial fatty acid oxidation disorder Diagnosis/Definite CPTD1A Phenotype details recurrent hepatic failure, nephromegaly, hemolytic anemia, rhabomyolysis, developmental delay Inheritance Familial, autosomal recessive Age/Examination 6.8y Age/Diagnosis 33m Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-11-14 16:02:37 +01:00 (CET) Date last edited N/A

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