| umls-concept:C0406726 | skos:definition | JABL: A syndrome of eye abnormalities, lobulated hamartomatous tongue, dental abnormalities, bifid uvula, postaxial hexadactyly, pectus excavatum, short sternum, kyphosis, mental retardation, and ceaseless ("see-saw") winking of the eyelids occurring in one of the two sisters in the original report. | lld:umls |
