A recessive skeletal dysplasia , SEMD aggrecan type , results from a missense mutation affecting the C-type lectin domain of aggrecan .
O B-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature O B-DiseaseOrPhenotypicFeature B-GeneOrGeneProduct O O O O O O O O O O O O O B-GeneOrGeneProduct O