Global Variome shared LOVD

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

Phenotype #0000162040 Individual ID 00213586 Associated disease NEM Phenotype details 6m-muscle biopsy no clearcut myopathological diagnosis, no nemaline rods, MRI-Whole body muscle MRI mirrored findings mother, much less pronounced Diagnosis/Initial nemaline myopathy Inheritance Familial, autosomal dominant Diagnosis/Definite NEM-1 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset floppy, delayed motor milestones Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-03-18 12:13:17 +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.