Global Variome shared LOVD

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

Phenotype #0000046404 Individual ID 00059912 Associated disease PHARC Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination 44y (44 years) Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details pes cavus, sensory loss, absent tendon reflexes at lower limbs, scoliosis; demyelinating polyneuropathy; sensorineural hearing loss; 7–10y-gait and limb ataxia, cerebellar dysarthria, dysmetria at upper limbs with adiadocokinesia, head titubation ; Vermian atrophy; Extensor plantar response at lower limbs; macroglossia; amblyopia Hearing/Loss - 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 (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.