Global Variome shared LOVD

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Phenotype #0000357259 Individual ID 00472449 Associated disease metabolic disease Phenotype details seizure (HP:0001250); myoclonus (HP:0001336); short attention span (HP:0000736); microcephaly (HP:0000252); abnormal cerebral white matter morphology (HP:0002500); periventricular white matter hyperintensities (HP:0030891); exercise intolerance (HP:0003546); elevated circulating medium-chain acylcarnitine concentration (HP:0035017) Diagnosis/Initial medium-chain acyl-CoA dehydrogenase deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite ACADMD Age/Examination 20y (20 years) 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 2026-02-16 15:46:49 +01:00 (CET) Date last edited N/A

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