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DeCS
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Descriptor Inglés:
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Sotos Syndrome
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Descriptor Español:
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síndrome de Sotos
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Descriptor Portugués:
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Síndrome de Sotos
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Sinónimos Inglés:
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Cerebral Gigantism
Cerebral Gigantisms
Gigantism, Cerebral
Gigantisms, Cerebral
Sequence, Sotos
Soto Syndrome
Soto's Syndrome
Sotos Sequence
Sotos' Syndrome
Syndrome, Sotos
Syndrome, Sotos'
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Categoría:
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C16.131.077.889
C16.131.260.905
C16.320.180.905
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Definición Inglés:
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Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome. |
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Relacionados Inglés:
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Fetal Macrosomia
Gigantism
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Nota Histórica Inglés:
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2011
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Calificadores Permitidos Inglés:
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Número del Registro:
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53997
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Identificador Único:
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D058495
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Ocurrencia en la BVS:
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Similar:
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DeCS
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