Phenotype #0000302477

Individual ID 00410373
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: no; abnormal optokinetic responses: yes; alternating skew deviation: yes; blepharospasm: y
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite pantothenate kinase-associated neurodegeneration
Age/Examination 33y (33 years)
Age/Diagnosis -
Age/Onset 6y
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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.