Global Variome shared LOVD

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

Phenotype #0000269729 Individual ID 00374519 Associated disease ? Diagnosis/Initial muscular dystrophy Diagnosis/Definite - Phenotype details Muscle wasting, muscle weakness, tight tendo achilles, restricted elbow movement, difficulty in walking and chronic generalized benign neurogenic disease with mild atrophy and fibrosis. A high level of CPK was detected Inheritance Familial, autosomal dominant Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-05-24 20:06:48 +02:00 (CEST) Date last edited N/A

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