Global Variome shared LOVD

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Phenotype #0000291670 Individual ID 00398059 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), facial palsy (HP:0010628), lower limb amyotrophy (HP:0007210), no pyramidal signs (-HP:0002650), areflexia (HP:0001284) Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite CMT4C Age/Examination 52y (52 years) Age/Diagnosis - Age/Onset 38y Phenotype/Onset - Protein - Owner name Farina Kemper Database submission license Creative Commons Attribution 4.0 International Created by Farina Kemper Date created 2021-12-30 20:41:17 +01:00 (CET) Date last edited 2022-01-06 12:08:43 +01:00 (CET)

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