Phenotype #0000046391

Individual ID 00059899
Associated disease PHARC
Inheritance Familial, autosomal recessive
Diagnosis/Initial -
Age/Examination 20y (20 years)
Diagnosis/Definite -
Age/Diagnosis 6y
Age/Onset -
Phenotype/Onset -
Phenotype details 4y-pes cavus, absent tendon reflexes; demyelinating polyneuropathy; 6y-sensorineural hearing loss; 2y-gait, limb, speech ataxia; 10y-wheelchair-bound; Cerebellar atrophy (age 3); Extensor plantar response; Retinitis Pigmentosa; 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 12:23:01 +01:00 (CET)

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