Global Variome shared LOVD

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Phenotype #0000301054 Individual ID 00408936 Associated disease - Phenotype details retinopathy, pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile; incipient cataracts in both eyes; gait ataxia, but also dysarthria and mild lower limb dysmetria; mild cerebellar atrophy Diagnosis/Initial Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts (PHARC) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset demyelinating Charcot-Marie-Tooth (CMT) Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-04-29 01:04:01 +02:00 (CEST) Date last edited N/A

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