Global Variome shared LOVD

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

Phenotype #0000358527 Individual ID 00473732 Associated disease MYOP Diagnosis/Initial congenital myopathy Diagnosis/Definite - Phenotype details Frequent fallings; Difficulty rising, climbing stairs & running; Positive Hx for Fx and dislocation of upper limb; Eye weakness; Ptosis, unilateral; Restrictive respiratory disease; Hyperlordosis; Weakness of forearm and arm muscles; Hypertrophy of calf, mild; Muscle biopsy: muscular atrophy, neurogenic probably progressive spinal mild form Inheritance Unknown Age/Examination 28y (28 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 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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