| umls-concept:C0265438 | skos:definition | JABL: A syndrome in which both ends of chromosome 10 have been lost (deletion) and the two broken ends have reunited to form a ring-shaped figure. Psychomotor retardation, craniofacial abnormalities (mainly microcephaly and eye and nose deformities), hypoplastic male genitalia, transverse palmar creases, and occasional heart anomalies are the usual abnormalities. | lld:umls |
