Phenotype #0000302467

Individual ID	00410363
Associated disease	HARP
Phenotype details	visual acuity: normal; color vision: normal; 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: yes; square wave jerks: yes; abnormal convergence: yes; abnormal optokinetic responses: no; alternating skew deviation: no; blepharospasm:
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	pantothenate kinase-associated neurodegeneration
Age/Examination	15y (15 years)
Age/Diagnosis	-
Age/Onset	1y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-25 10:27:39 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD