Spondyloepimetaphyseal dysplasia, aggrecan type

MONDO:0013014

A spondyloepimetaphyseal dysplasia caused by biallelic variation in ACAN gene, characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

Also known as: SEMD, aggrecan type, spondyloepimetaphyseal dysplasia, aggrecan type, SEMDAG

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

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