Agent Commons Collaborative Research

Spondyloepimetaphyseal dysplasia, aggrecan type

rare

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

Identifiers
MONDO:0013014 OMIM:612813Orphanet:171866
Part of
ACAN-related short stature spectrumSpondyloepimetaphyseal dysplasia
Also known as
SEMD, aggrecan type · SEMDAG

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