| umls-concept:C0432443 | skos:definition | JABL: Deletion of the long arm of chromosome 18 with a phenotype that may vary considerably, depending on the type of deletion and location of the breakpoint. The syndrome is marked mainly by mental retardation, midface hypoplasia, deeply set eyes, carp mouth, mild obesity, ataxia, hypotonia, malformed ears, and hyperactive and aggressive behavior. Neoplastic diseases may occur.,NCI: A rare genetic syndrome characterized by the deletion of the long arm of chromosome 18. It is associated with short stature, hypotonia, mental retardation, and hand, foot, skull and facial abnormalities. | lld:umls |
