Townes-Brocks syndrome.
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few.
Department of Pediatrics, The University of North Carolina at Chapel Hill, 27599-7220, USA.
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D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D001006:Anus, Imperforate / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D003937:Diagnosis, Differential; D004431:Ear, External / Q000002:abnormalities; D005124:Eye Abnormalities / Q000235:genetics; D005260:Female; D014644:Genetic Variation; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans; D008297:Male; D010641:Phenotype; D017689:Polydactyly / Q000235:genetics; D012600:Scoliosis / Q000235:genetics; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics; D014564:Urogenital Abnormalities / Q000235:genetics
C104146:SALL1 protein, human; D014157:Transcription Factors