Global Variome shared LOVD

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

Phenotype #0000044438 Individual ID 00057787 Associated disease SMAPME Phenotype details proximal weakness, muscular atrophy; EMG chronic denervation; 7y-brief myoclonic seizures; CPK: normal; w14m Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 5y Phenotype/Onset walking difficulties, frequent falls, tremor hands Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-10-28 10:09:38 +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.