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Table 2 Diseases associated with ACAN mutations

From: Prenatal diagnosis of a novel pathogenic variation in the ACAN gene presenting with isolated shortening of fetal long bones in the second trimester of gestation: a case report

Isolated Short Stature
Spondyloepimetaphyseal dysplasia, aggrecan type (OMIM 612813)
Spondyloepiphyseal dysplasia, Kimberley type (OMIM 608361)
Short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (OMIM 165800)