Global Variome shared LOVD

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

Phenotype #0000078601 Individual ID 00100410 Associated disease LGMD2 Phenotype details see paper; ..., dark urine 10d after episode of fever and sore throat treated with antibiotics; 8y-mild waddling gait, lumbar hyperlordosis, slightly positive Gower’s maneuver, CPK 8,000–12,000 U/L Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination 08y (8 years) Age/Onset 05y Phenotype/Onset myoglobinuria Age/Diagnosis - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-02-18 21:03:44 +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.