| umls-concept:C0796147 | skos:definition | MSH: Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. Clinical features include MENTAL RETARDATION; CRANIOFACIAL ABNORMALITIES; digital malformations, and growth retardation.,JABL: Absence of the corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces, and polydactyly.,NCI: A rare genetic syndrome characterized by agenesis of the corpus callosum, polydactyly, mental and motor retardation. | lld:umls |
