Global Variome shared LOVD

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

Phenotype #0000162015 Individual ID 00213561 Associated disease NEM Phenotype details mild; requiring occasional nocturnal oxygen; retrospectively recalls difficulty keeping up with peers in childhood; 66y-mild facial weakness, dysarthria, mild scoliosis/hyperlordosis, hypothyroidism, head drop, mild weakness of axial, some proximal/some distal muscles; occasional difficulty chewing and swallowing.; walked until death, used wheelchair for long distances; 66y-died from thyroid cancer; walk; wheelchair bound long distance; no intellectual disability Diagnosis/Initial nemaline myopathy Inheritance Isolated (sporadic) Diagnosis/Definite NEM-1 Age/Examination - Age/Diagnosis - Age/Onset 58y Phenotype/Onset respiratory failure Protein - Owner name Alan Beggs Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-08-28 15:29:44 +02:00 (CEST) Date last edited 2012-03-18 12:28:52 +01:00 (CET)

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