Orofaciodigital syndrome 3

Source:http://linkedlifedata.com/resource/umls/id/C0406726

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.

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