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JABL: A syndrome with onset in early adulthood of moderate psychomotor retardation, ataxia, hypotonia, narrow forehead with supraorbital ridges, deeply set eyes, synophrys, upslanting palpebral fissures, short philtrum, large mouth, hypergonadotropic hypogonadism, and retinal dystrophy. This syndrome is similar to the Boucher-Neuhauser syndrome in which neurologic signs usually develop during adolescence.
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