Global Variome shared LOVD

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Phenotype #0000347704 Individual ID 00459977 Associated disease peroxisomal acyl-CoA Phenotype details see paper; ..., neonatal mild hypotonia, horizontal nystagmus; 2m-convulsions; 7m-head control, 10m-roll ove, 18m-speech few words, 24m-crawl, not sitting; 28m-regression, severe hypotonia, dysphagia, increased tendon reflexes lower extremities, positive Babinski reflex; 37m-retinal degeneration; no dysmorphic features, no hepatosplenomegaly; 42m-deceased (respiratory failure) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite peroxisomal acyl-CoA oxidase deficiency Age/Examination 03y06m (3 years, 6 months) 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 2025-01-14 21:18:59 +01:00 (CET) Date last edited N/A

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