Global Variome shared LOVD

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Phenotype #0000291671 Individual ID 00398206 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), no pyramidal signs (-HP:0000651), no pyramidal signs (-HP:0010628), Lower limb amyotrophy (HP:0007210), scoliosis (HP:0002650), Areflexia (HP:0001284), Abnormal myelination (HP:0012447) Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite CMT4C Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset 10y 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 17:53:36 +01:00 (CET) Date last edited 2022-01-06 12:13:13 +01:00 (CET)

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