Global Variome shared LOVD

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

Phenotype #0000291598 Individual ID 00398353 Associated disease CMT Phenotype details see paper; ..., difficulty walking (HP:0002355); postural instability (HP:0002172); acroparesthesia (HP:0031006); foot dorsiflexor weakness (HP:0009027); impaired vibratory sensation (HP:0002495); impaired proprioception (HP:0010831); demyelinating peripheral neuropathy (HP:0007108) Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal dominant Diagnosis/Definite CMT1B Age/Examination 60y (60 years) Age/Diagnosis 60y Age/Onset - Phenotype/Onset difficulty walking (HP:0002355); postural instability (HP:0002172); acroparesthesia (HP:0031006) Protein - Owner name Maeve Soen Database submission license Creative Commons Attribution 4.0 International Created by Maeve Soen Date created 2022-01-05 02:52:39 +01:00 (CET) Date last edited 2022-01-05 11:55:56 +01:00 (CET)

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