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

0 clinical trials for this condition and its sub-types, 0 tagged with Spondyloepiphyseal dysplasia, Kimberley type itself.

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↑ Spondyloepiphyseal dysplasia (8) ↑ ACAN-related short stature spectrum (1)

Including sub-types (0) Tagged with Spondyloepiphyseal dysplasia, Kimberley type (0)

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