Global Variome shared LOVD

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

Phenotype #0000117171 Individual ID 00144402 Associated disease ? Diagnosis/Initial dystrophy, muscular Diagnosis/Definite dystrophy, muscular, limb-girdle (dystroglycanopathy) type C12 (MDDGC-12) Phenotype details proximal upper and proximal and distal lower limb weakness. Distal lower limb hypertrophy; mild LGMD phenotype, onset in chidhood Inheritance Familial, autosomal recessive Age/Examination 06y (6 years) Age/Diagnosis 10y Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Sonja Strang-Karlsson Database submission license No license selected Created by Johan den Dunnen Date created 2017-12-11 13:55:11 +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.