Spondyloepiphyseal dysplasia, Kimberley type

MONDO:0012019

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

Also known as: spondyloepiphyseal dysplasia, Kimberley type, SEDK, Sedk

35 clinical trials for this condition and its sub-types.

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