Global Variome shared LOVD

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Phenotype #0000352270 Individual ID 00467063 Associated disease HNPP Phenotype details The patient had experienced frequent episodes of numbness and tingling in the hands and an episode of paresis Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Polina Chausova Database submission license No license selected Created by Polina Chausova Date created 2025-10-07 14:30:47 +02:00 (CEST) Date last edited 2026-04-04 16:59:43 +02:00 (CEST)

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