Global Variome shared LOVD

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

Phenotype #0000232750 Individual ID 00306927 Associated disease CMT Phenotype details see paper; ..., poor motor performance; distal leg atrophy; distal leg weakness; upper extremity involvement; no proximal involvement; no laterality; decreased touch; decreased vibration; decreased deep tendon reflex; no cognitive impairment Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal dominant Diagnosis/Definite CMT2Z Age/Examination 44y (44 years) Age/Diagnosis - Age/Onset 6y Phenotype/Onset poor motor performance Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-07-24 09:59:44 +02:00 (CEST) Date last edited N/A

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