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skos:definition |
JABL: A syndrome in which 2 or more of the following abnormalities occur in most patients: Anorectal malformations (imperforate, stenotic, or anteriorly situated anus), hand deformities (polydactyly, broad, bifid, or triphalangeal thumbs), and external ear abnormalities (microtia, "satyr" or "lop" ear, and preuricular tags or pits), and sensorineural deafness. Intellectual deficit related to hearing disorders or occurring independently may be associated. Urinary tract abnormalities are present in some patients.,NCI: An autosomal dominant inherited syndrome caused by mutations in the SALL1 gene. Clinical manifestations include imperforate anus, malformations in the ears and hands, hearing loss, and kidney and heart abnormalities.
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