Global Variome shared LOVD

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Phenotype #0000046400 Individual ID 00059908 Associated disease PHARC Inheritance Unknown Diagnosis/Initial - Age/Examination 16y (16 years) Diagnosis/Definite - Age/Diagnosis 13y Age/Onset - Phenotype/Onset - Phenotype details pes cavus, reduced sensibility, reduced tendon reflexes in upper limbs, absent in lower limbs ; demyelinating polyneuropathy; 13y-sensorineural hearing loss; no ataxia; brain MR/CT normal; no pyramidal tract signs ; no Retinitis Pigmentosa; ERG normal; 16y-cataract (slight) 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 12:21:59 +01:00 (CET)

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