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Sotos syndrome 1
Summary
- Synonym
-
- 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.
- Super Class
- Sotos syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0112103
- Mondo Disease Ontology
- OMIM
