Global Variome shared LOVD

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

Phenotype #0000346049 Individual ID 00457585 Associated disease MTPD Phenotype details hypoglycemia, lethargy, no skeletal myopathy, no neuropathy Diagnosis/Initial fatty acid oxidation disorder Inheritance Familial, autosomal recessive Diagnosis/Definite MTPD2 Age/Examination 2y2m (2 years, 2 months) Age/Diagnosis - Age/Onset 2d 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 2024-11-14 19:45:20 +01:00 (CET) Date last edited N/A

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