Global Variome shared LOVD

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Phenotype #0000046393 Individual ID 00059901 Associated disease PHARC Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination 62y (62 years) Diagnosis/Definite - Age/Diagnosis >20y< Age/Onset - Phenotype/Onset - Phenotype details 38y-pes cavus, sensory loss, absent ankle reflexes; demyelinating polyneuropathy; 20-ies sensorineural hearing loss; no ataxia; brain MR/CT normal; no pyramidal tract signs ; 38y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 28y-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)

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