Phenotype #0000351257

Individual ID 00318159
Associated disease EDS
Inheritance Familial, autosomal recessive
Diagnosis/Initial spondyloepimetaphyseal dysplasia
Age/Examination -
Diagnosis/Definite EDSSPD2
Age/Onset -
Phenotype/Onset -
Phenotype details severe skin and joint laxity, history of multiple fractures, blue sclera with no facial dysmorphism, severe khyphosco- liosis, marked acetabular dysplasia, bilateral radial head dislocation, developmental delay and severe short stature
Hearing/Loss -
Protein -
CK-level -
EMG -
Muscle/Biopsy -
Age/Diagnosis -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-06-05 19:58:31 +02:00 (CEST)
Date last edited N/A

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