Global Variome shared LOVD

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

Phenotype #0000351856 Individual ID 00466493 Associated disease NMD Diagnosis/Initial muscle weakness Diagnosis/Definite MPXPS Phenotype details see paper; ..., developmental delay; speech delay; elevated liver transaminases; elevated CK level; no hypotonia; normal gait; frequent falls; no ventricular septal defect; learning disability; 25y-extrapyrimidal signs; calf muscle hypertrophy; seizures; muscular cramps; tremors; postural dystonia; three similarly affected brothers Inheritance Familial, autosomal recessive Age/Examination 24y-26y Age/Diagnosis - Age/Onset 21y-23y Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-09-08 19:30:15 +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.