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 )

Relationships
is a type of: autosomal dominant disease Sotos syndrome