Global Variome shared LOVD

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

Phenotype #0000239699 Individual ID 00315954 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details sensorineural hearing loss; 12y-wheelchair bound; respiratory insufficiency; scoliosis; maximal recorded CK 3,633U/l; failure to thrive Inheritance Familial, autosomal recessive Age/Examination 22y (22 years) Age/Diagnosis 18y 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 2020-10-30 18:31:12 +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.