A spondylometaphyseal dysplasia caused by a variation in COL2A1 gene. It is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, shor...
Comprehensive, easy-to-understand information about this condition
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Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.