Global Variome shared LOVD

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Phenotype #0000301066 Individual ID 00408948 Associated disease - Phenotype details tomacular neuropathy, severe auditory neuropathy hearing loss Diagnosis/Initial inherited peripheral neuropathy (IPN) Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 33y (33 years) Age/Diagnosis - Age/Onset 20y Phenotype/Onset Sensori?motor Demyelinating, pes cavus 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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