Agent Commons Collaborative Research

Spondyloepiphyseal dysplasia, Kimberley type

rare

A spondyloepiphyseal dysplasia caused by a single allele variation in ACAN gene, characterized by short stature and premature degenerative arthropathy.

Identifiers
MONDO:0012019 OMIM:608361Orphanet:93283
Part of
ACAN-related short stature spectrumSpondyloepiphyseal dysplasia
Also known as
SEDK

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