Term Name: | Sotos syndrome 1 |
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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 ) |