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DeCS
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Descriptor English:
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Rubinstein-Taybi Syndrome
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Descriptor Spanish:
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Síndrome de Rubinstein-Taybi
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Descriptor Portuguese:
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Síndrome de Rubinstein-Taybi
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Synonyms English:
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Broad Thumb Hallux Syndrome
Broad Thumb-Hallux Syndrome
Broad Thumb-Hallux Syndromes
Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation
Rubinstein Syndrome
Rubinstein Taybi Syndrome
Syndrome, Broad Thumb-Hallux
Syndrome, Rubinstein
Syndrome, Rubinstein-Taybi
Syndromes, Broad Thumb-Hallux
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Tree Number:
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C05.116.099.370.797
C05.660.207.850
C10.597.606.360.700
C16.131.077.804
C16.131.260.790
C16.131.621.207.850
C16.320.180.790
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Definition English:
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A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3). |
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See Related English:
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Intellectual Disability
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History Note English:
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91(72); was see under ABNORMALITIES, MULTIPLE 1972-90
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Allowable Qualifiers English:
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Record Number:
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12788
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Unique Identifier:
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D012415
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Occurrence in VHL:
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Similar:
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DeCS
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