Global Variome shared LOVD

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

Phenotype #0000292068 Individual ID 00398979 Associated disease CMTX1 Phenotype details see paper;…, symmetrical muscle atrophy distal amyotrophy (HP:0003693); foot dorsiflexor weakness (HP:0009027); pes cavus (HP:0001761); reduced tendon reflexes (HP:0001315); mixed demyelinating and axonal polyneuropathy (HP:0007327) Diagnosis/Initial CMT1X Inheritance Familial, X-linked dominant Diagnosis/Definite - Age/Examination 32y (32 years) Age/Diagnosis - Age/Onset 20y Phenotype/Onset distal lower limb muscle weakness (HP:0009053) Protein - Owner name Maeve Soen Database submission license Creative Commons Attribution 4.0 International Created by Maeve Soen Date created 2022-01-14 23:16:52 +01:00 (CET) Date last edited 2022-01-18 16:31:04 +01:00 (CET)

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