A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.
D027321:Anion Transport Proteins / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D009154:Mutation; D010641:Phenotype; D000076988:Sulfate Transporters
D027321:Anion Transport Proteins; C089651:SLC26A2 protein, human; D000076988:Sulfate Transporters