Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000291669 Individual ID 00398040 Associated disease CMT Phenotype details Walking difficulties (HP:0002355), Pes cavus (HP:0001761), Upper limb muscle weakness (HP:0003484), Lower limb muscle weakness (HP:0007340), Lower limb amyotrophy (HP:0007210), Scoliosis (HP:0002650), Areflexia (HP:0001284) Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite CMT4C Age/Examination 53y (53 years) Age/Diagnosis - Age/Onset 30y 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 17:36:09 +01:00 (CET) Date last edited 2022-01-06 12:03:13 +01:00 (CET)

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