Global Variome shared LOVD

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

Phenotype #0000325851 Individual ID 00435667 Associated disease MYOP Diagnosis/Initial lower limbs weakness Diagnosis/Definite - Phenotype details see paper; ..., initial symptom lower limbs weakness; muscle weakness upper limbs proximal IV/distal IV, lower limbs proximal III/distal IV; high arched palate, elongated face; CK level 64U/L Inheritance Familial, autosomal recessive Age/Examination 52y (52 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-08-09 09:56:20 +02:00 (CEST) Date last edited 2023-08-09 10:19:55 +02:00 (CEST)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.