Global Variome shared LOVD

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

Phenotype #0000127063 Individual ID 00154386 Associated disease WNCHRS Phenotype details severe skeletal/joint deformities, progressive bilateral and symmetric osteolysis carpals and tarsals, interphalangeal joint erosions mimicking rheumatoid arthritis, generalized osteoporosis, eventual loss of function larger joints, including shoulder, elbow, hip, and knee joints; gum hypertrophy, corneal opacities, ECG suggestive myocardial damage Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-02-21 09:35:59 +01:00 (CET) Date last edited N/A

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