| Term Name: | Sotos syndrome 1 |
|---|---|
| Synonyms: | SOTOS1 |
| Definition: | A Sotos syndrome 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 ) |