| Term Name: | Sotos syndrome |
|---|---|
| Synonyms: | SOTOS, Sotos syndrome 1, SOTOS1 |
| Definition: | A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life and that has_material_basis_in heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene. |
| Ontology: | Human Disease [DOID:0112103] ( DOID:0112103 ) |