| umls-concept:C0220769 | skos:definition | JABL: A multiple congenital anomaly/mental retardation syndrome characterized by a short stature, large head, hypotonia with or without joint contractures, seizures, imperforate anus, agenesis of the corpus callosum, and characteristic facies. "FG" stands for the surnames of patients in whom the syndrome was first reported. | lld:umls |
