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 InternationalCreative Commons License
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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