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skos:definition |
JABL: A multiple abnormality syndrome marked by characteristic facies with long palpebral fissures with eversion of the lower eyelids similar to the make-up of actors of Kabuki, a traditional Japanese theatrical form. Additional cardinal features include skeletal defects, abnormal dermatoglyphics, mental retardation, and postnatal growth deficiency. Less commonly occurring are visceral defects, susceptibility to infection, and premature breast development in girls.
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