Global Variome shared LOVD

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Phenotype #0000291698 Individual ID 00398594 Associated disease CMTX1 Phenotype details see paper; Gait disturbance (HP:0001288), Pes cavus (HP:0001761), Upper limb muscle weakness (HP:0003484), Upper limb amyotrophy (HP:0009129), Lower limb amyotrophy (HP:0007210), Reduced tendon reflexes (HP:0001315), Hand tremor (HP:0002378), No pyramidal signs (-HP:0002936), EMG abnormality (HP:0003457) Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, X-linked recessive Diagnosis/Definite CMTX1 Age/Examination 25y (25 years) Age/Diagnosis - Age/Onset 14y Phenotype/Onset Lower limb muscle weakness (HP:0007340) Protein - Owner name Farina Kemper Database submission license Creative Commons Attribution 4.0 International Created by Farina Kemper Date created 2022-01-06 21:41:07 +01:00 (CET) Date last edited 2022-01-18 17:03:30 +01:00 (CET)

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