Sotos syndrome

DIS: 44




Sotos syndrome

Definition: SOTOS syndrome characterized by excessively rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation.Sotos syndrome is caused by mutation in the NSD1 gene (MIM.606681). Sotos syndrome is a monogenic disease due to a mutation in the NSD1 gene.


Synonyms:

  • cerebral gigantism

Category: Monogenic disease

Developmental anomalies

Listed in the disease's profile :


There are no developmental anomalies for this disease.

Observed in MDB cases: (graph view)


There are no developmental anomalies for this disease.
Case records

Associated signaling pathways
Associations Gene: NSD1
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Links

Humpath: 1147

thefetus.net: (empty)

eMedicine: (empty)

OMIM: 117550

Wikipedia: (empty)

DiseaseDB: (empty)