Phenotype #0000203515

Individual ID 00265730
Associated disease EDS
Inheritance Unknown
Diagnosis/Initial suspected EDS
Age/Examination 23y (23 years)
Diagnosis/Definite osteogenesis imperfecta/Ehlers-Danlos syndrome overlap
Age/Onset -
Phenotype/Onset -
Phenotype details The patient has blue sclerae, generalized joint hypermobility, multiple joint dislocations, three fractures in adulthood, recurrent diverticulitis requiring hemicolectomy, mild mitral valve prolapse, and insufficiency and stenosis of moderate degree of the aortic valve.
Hearing/Loss -
Protein -
CK-level -
EMG -
Muscle/Biopsy -
Age/Diagnosis -
Owner name Lucia Micale
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Lucia Micale
Date created 2019-10-02 10:36:54 +02:00 (CEST)
Date last edited 2019-10-07 12:16:18 +02:00 (CEST)

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