Global Variome shared LOVD

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Phenotype #0000302474 Individual ID 00410370 Associated disease HARP Phenotype details electroretinogram: abnormal; electroretinogram loss pattern: moderate rod-cone; ""eye-of-the-tiger"" sign: yes Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite pantothenate kinase-associated neurodegeneration Age/Examination 21y (21 years) Age/Diagnosis - Age/Onset 10y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-25 10:27:39 +02:00 (CEST) Date last edited N/A

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