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Sotosov syndróm

Subject h.	Sotosov syndróm
Subject h.	Sotos Syndrome
Entry terms	gigantizmus cerebrálny Sotosova sekvencia
Scope note in English	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.
See also reference (FX) in Slovak	makrozómia fetálna gigantizmus
See also reference (FX) in English	Fetal Macrosomia Gigantism
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Number of the records: 1