| umls-concept:C0796184 | skos:definition | JABL: Multiple congenital anomaly consisting of agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Robin sequence, malformed ears, redundant neck skin, laryngeal abnormalities, heart defect, short hands, hypotonia, occasional Hirschsprung disease, and moderate to severe developmental delay. | lld:umls |
