Phenotype #0000046398

Individual ID 00059906
Associated disease PHARC
Inheritance Unknown
Diagnosis/Initial -
Age/Examination 36y (36 years)
Diagnosis/Definite -
Age/Diagnosis 10y
Age/Onset -
Phenotype/Onset -
Phenotype details pes cavus, normal sensibility, reduced tendon reflexes in lower limbs; demyelinating polyneuropathy; 10y-deaf; ataxia; Atrophy of vermis and medulla oblongata; Extensor plantar response at right side; spasticity; 36y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 32y-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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