Global Variome shared LOVD

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Phenotype #0000302473 Individual ID 00410369 Associated disease HARP Phenotype details visual acuity: normal; color vision: normal; Goldmann visual fields: could not perform; dysarthria: yes; abnormal gait: yes; bone spicules: no; electroretinogram: abnormal; electroretinogram loss pattern: mild cone; ""eye-of-the-tiger"" sign: yes; neuro-ophthalmologic characteristics: Adie's pupils: yes*; abnormal saccaades: no; saccadic pursuit: yes; abnormal suppression of the vestibular ocular reflex: yes; square wave jerks: no; abnormal convergence: yes; abnormal optokinetic responses: no; alternating skew deviation: no; blepharospasm: y Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite pantothenate kinase-associated neurodegeneration Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset 5y 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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