Phenotype #0000302470

Individual ID 00410366
Associated disease HARP
Phenotype details visual acuity: could not perform; color vision: could not perform; Goldmann visual fields: could not perform; dysarthria: yes; abnormal gait: yes; bone spicules: yes; electroretinogram: abnormal; electroretinogram loss pattern: responses severely sub-normal for both rod and cone stimuli or indistinguishable from noise; ""eye-of-the-tiger"" sign: yes; neuro-ophthalmologic characteristics: Adie's pupils: yes; abnormal saccaades: yes; saccadic pursuit: yes; abnormal suppression of the vestibular ocular reflex: nd; square wave jerks: no; abnormal convergence: yes; abnormal optokinetic responses: yes; alternating skew deviation: no; blepharospasm:
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite pantothenate kinase-associated neurodegeneration
Age/Examination 18y (18 years)
Age/Diagnosis -
Age/Onset 2y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-25 10:27:39 +02:00 (CEST)
Date last edited N/A

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