Global Variome shared LOVD

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Phenotype #0000347726 Individual ID 00459999 Associated disease peroxisomal acyl-CoA Phenotype details see paper;, birth 33w-cesarean section, weight 2,000g, severe generalized hypotonia; 1m-generalized epileptic seizures; 6m-tonic–clonic seizures, myoclonic jerks with emporary remissions; severely delayed, no postural control; 4y-spastic tetraplegia, severe intellectual disability, poor response to visua/auditory stimuli Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite peroxisomal acyl-CoA oxidase deficiency Age/Examination 5.4y 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 2025-01-15 14:41:16 +01:00 (CET) Date last edited N/A

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