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Spondyloepiphyseal dysplasia congenita

rare

A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

Identifiers
MONDO:0008471 OMIM:183900Orphanet:94068
Part of
COL2A1-related spondyloepiphyseal dysplasiaType 2 collagenopathy
Also known as
congenital spondyloepiphyseal dysplasia · SED congenita · SEDC · Spondyloepiphyseal Dysplasia, Congenital · spondyloepiphyseal dysplasia, congenital type

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