Global Variome shared LOVD

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

Phenotype #0000291675 Individual ID 00398511 Associated disease CMT 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), Distal sensory impairment (HP:0002936) Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, X-linked dominant Diagnosis/Definite CMTX1 Age/Examination 54y (54 years) Age/Diagnosis - Age/Onset 10y-20y 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 2022-01-05 19:26:30 +01:00 (CET) Date last edited 2022-01-06 13:11:48 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.