Global Variome shared LOVD

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Phenotype #0000292395 Individual ID 00398981 Associated disease CMT Phenotype details see paper; Foot dorsiflexor weakness (HP:0009027), Distal lower limb amyotrophy (HP:0008944), Areflexia (HP:0001284), Pes cavus (HP:0001761), Upper limb muscle weakness (HP:0003484), Lower limb muscle weakness (HP:0007340), Impaired vibratory sensation (HP:0002495), No pyramidal signs (-HP:0002650), No pyramidal signs (-HP:0001291) Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Unknown Diagnosis/Definite - Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset 02y Phenotype/Onset Frequent falls (HP:0002359) Protein - Owner name Farina Kemper Database submission license Creative Commons Attribution 4.0 International Created by Farina Kemper Date created 2022-01-15 14:00:36 +01:00 (CET) Date last edited 2022-01-18 16:37:53 +01:00 (CET)

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