Global Variome shared LOVD

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Phenotype #0000046399 Individual ID 00059907 Associated disease PHARC Inheritance Unknown Diagnosis/Initial - Age/Examination 24y (24 years) Diagnosis/Definite - Age/Diagnosis >10y< Age/Onset - Phenotype/Onset - Phenotype details pec cavus, hammertoes, reduced tendon reflexes in upper and lower limbs; demyelinating polyneuropathy; late in teens sensorineural hearing loss; no ataxia; Slight ventricular assymmetry.No cerebellar atrophy; Indifferent plantar response; no Retinitis Pigmentosa; ERG normal; 15y-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 12:21:59 +01:00 (CET)

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