| umls-concept:C0796182 | skos:definition | JABL: A subtype of frontonasal dysplasia (FND) associated with postaxial polydactyly, tibial hypoplasia, epibulbar epidermoid, occipital encephalocele, agenesis of the corpus callosum, Dandy-Walker malformation (partial or complete absence of the cerebellar vermis, hydrocephalus, and posterior fossa cyst continuous with the fourth ventricle, and mental retardation. | lld:umls |
