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Up to: Syndromic disease · Hereditary disorder of connective tissue · Osteochondrodysplasia
Linkeropathy
Group of rare heritable connective tissue disorders, characterized by a variable degree of short stature, skeletal dysplasia, joint laxity, cutaneous anomalies, dysmorphism, heart malformation, and developmental delay. The LK genes encode for enzymes that add glycosaminoglycan chains onto proteoglycans via a common tetrasaccharide linker region.
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Desbuquois dysplasia 2 0 trials
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Spondylo-ocular syndrome 0 trials