Global Variome shared LOVD

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

Phenotype #0000166803 Individual ID 00218361 Associated disease CMT Phenotype details see paper; difficulty walking, slowly progressive weakness lower limbs, atrophy distal parts lower limbs (III1), tendon reflexes depressed or absent, with mild stocking sensory loss to pricking pain or vibration feet, talipes cavus deformity (II4), no clawhand deformity, numbness and tingling in feet, no cranial nerve involvement, no cerebellar or pyramidal signs, ... Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal dominant Diagnosis/Definite CMT-2P Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset difficulty walking Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-01-24 08:39:25 +01:00 (CET) Date last edited N/A

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