Global Variome shared LOVD

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

Phenotype #0000291678 Individual ID 00397526 Associated disease CMT Phenotype details see paper; ..., distal lower limb muscle weakness HP:0009053; Upper limb muscle weakness HP:0003484; Distal sensory loss HP:0002936 Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal dominant Diagnosis/Definite CMT1D Age/Examination 35y (35 years) Age/Diagnosis 35y Age/Onset 20y Phenotype/Onset distal lower limb muscle weakness HP:0009053 Protein - Owner name Sarah El-Bestawi Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Sarah El-Bestawi Date created 2021-12-23 11:33:28 +01:00 (CET) Date last edited 2022-01-06 14:23:53 +01:00 (CET)

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