Global Variome shared LOVD

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Phenotype #0000292393 Individual ID 00398738 Associated disease CMT Phenotype details See paper;…, distal amyotrophy (HP:0003693); absent achilles reflex (HP:0003438);impaired pain sensation (HP:0007328); impaired vibration sensation in the lower limbs (HP:0002166); acute demyelinating polyneuropathy (HP:0007131) Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal dominant Diagnosis/Definite CMT Age/Examination - Age/Diagnosis >31y Age/Onset 31y Phenotype/Onset gait ataxia (HP:0002066); foot dorsiflexor weakness (HP:0009027) Protein - Owner name Maeve Soen Database submission license Creative Commons Attribution 4.0 International Created by Maeve Soen Date created 2022-01-10 19:10:13 +01:00 (CET) Date last edited 2022-01-18 16:24:51 +01:00 (CET)

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