Name Spondyloepiphyseal Dysplasia, Kimberley Type
Synonyms -
Classification bone, developmental, genetic
Phenotypes Autosomal dominant inheritance; Delayed skeletal maturation; Flat capital femoral epiphysis; Genu valgum; Genu varum; Platyspondyly; Proportionate short stature; Spondyloepiphyseal dysplasia
Associated Genes ACAN (Withdrawn symbols: AGC1, CSPG1, CSPGCP, MSK16 )
Mouse Orthologs Acan (Withdrawn symbols: Agc1, b2b183Clo, cmd )
Source
OMIM:608361 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)