Global Variome shared LOVD

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Phenotype #0000291672 Individual ID 00398207 Associated disease CMT Phenotype details see paper; Walking difficulties (HP:0002355), Pes cavus (HP:0001761), Hearing impairment (HP:0000365), Upper limb muscle weakness (HP:0003484), Lower limb muscle weakness (HP:0007340), diplopia (HP:0000651), no pyramidal signs (-HP:0010628), Lower limb amyotrophy (HP:0007210), scoliosis (HP:0002650), Areflexia (HP:0001284) Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite CMT-C Age/Examination 25y (25 years) Age/Diagnosis - Age/Onset 08y Phenotype/Onset - Protein - Owner name Farina Kemper Database submission license Creative Commons Attribution 4.0 International Created by Farina Kemper Date created 2021-12-31 19:32:27 +01:00 (CET) Date last edited 2022-01-06 12:17:19 +01:00 (CET)

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