Linkeropathy

MONDO:1040022

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.

0 clinical trials for this condition and its sub-types, 0 tagged with Linkeropathy itself.

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Where it sits in the disease tree

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Part of

↑ Syndromic disease (7133) ↑ Hereditary disorder of connective tissue (1311) ↑ Osteochondrodysplasia (380)

Sub-types of Linkeropathy

Desbuquois dysplasia 2 0 trials
Spondylo-ocular syndrome 0 trials
Spondylodysplastic Ehlers-Danlos syndrome 0 trials

Including sub-types (0) Tagged with Linkeropathy (0)

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