Number of the records: 1  

Sotosov syndróm

  1. Record numberd058495
    Date06.06.2025
    TypeM
    Topical termSotosov syndróm
    Other termSlovak (Pseudonym) gigantizmus cerebrálny
    Slovak (Pseudonym) Sotosova sekvencia
    See also(Later heading) makrozómia fetálna
    (Later heading) gigantizmus
    (Skutočné meno) makrozómia fetálna
    (Skutočné meno) gigantizmus
    UDCC16.131.077.889C16.131.260.905C16.320.180.905
    NoteCongenital 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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Number of the records: 1  

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