| umls-concept:C0796068 | skos:definition | NCI: A rare autosomal dominant syndrome caused by mutations in the MYNC oncogene. It is characterized by microcephaly, limb abnormalities, esophageal and/or duodenal atresia.,JABL: Microcephaly, type A brachydactyly, short stature, duodenal atresia, patent ductus arteriosus, hallux valgus, restricted finger and elbow movement, and syndactyly of the toes. Learning disability occurs in about one-third of the affected infants. Dysplasia of diaphyseal ossification centers is the cause of digital anomalies. | lld:umls |
