Global Variome shared LOVD

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

Phenotype #0000046397 Individual ID 00059905 Associated disease PHARC Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination 58y (58 years) Diagnosis/Definite - Age/Diagnosis >20y< Age/Onset - Phenotype/Onset - Phenotype details 51y-pes cavus, sensory loss, reduced tendon reflexes; demyelinating/axonal polyneuropathy; 20-ies sensorineural hearing loss; no ataxia; Cerebellar atrophy; Extensor plantar response at lower limbs; 35y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 26y-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.