Global Variome shared LOVD

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

Phenotype #0000292580 Individual ID 00399475 Associated disease CMTX1 Phenotype details see paper;…, symmetrical muscle atrophy distal amyotrophy (HP:0003693); distal lower limb muscle weakness (HP:0009053); pes cavus (HP:0001761); reduced tendon reflexes (HP:0001315) Diagnosis/Initial CMT1X Inheritance Familial, X-linked dominant Diagnosis/Definite - Age/Examination 55y (55 years) Age/Diagnosis - Age/Onset 30y Phenotype/Onset - Protein - Owner name Maeve Soen Database submission license Creative Commons Attribution 4.0 International Created by Maeve Soen Date created 2022-01-20 20:54:02 +01:00 (CET) Date last edited 2022-01-24 11:50:55 +01:00 (CET)

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