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 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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