Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000046402 Individual ID 00059910 Associated disease PHARC Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination 11y (11 years) Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details absent tendon reflexes, moderate muscle weakness of lower limbs, normal sensibility; no sensorineural hearing loss; 3-4y-limb and gait ataxia, horizontal nystagmus, dysarthria, dysmetria upper and lower limbs; 15m-delayed walking; action and intention tremor ; Cerebellar atrophy; Extensor plantar response at lower limbs; no Retinitis Pigmentosa; no cataract Hearing/Loss sensorineural Protein - Owner name Jacopo Celli Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Jacopo Celli Date created 2010-10-19 14:47:56 +02:00 (CEST) Date last edited 2018-01-26 12:23:01 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.