Phenotype #0000046408

Individual ID 00059916
Associated disease PHARC
Inheritance Unknown
Diagnosis/Initial -
Age/Examination 50y (50 years)
Diagnosis/Definite -
Age/Diagnosis 17y
Age/Onset -
Phenotype/Onset -
Phenotype details 34y-pes cavus, hammertoes, sensibility slightly reduced; abnormal neurography and EMG ; 17y-sensorineural hearing loss; 18y-dysarthria, gait ataxia, jerky eye movements, tremor in hands; Cerebellar atrophy Increased signal in periventricular white matter.; Flexor plantar response; spasticity; preserved reflexes; 20-ies Retinitis Pigmentosa; 22y-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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