Sotos Syndrome Overgrowth and NSD1 Gene Assessment

Assesses Sotos syndrome using the three cardinal features (facial gestalt, learning disability, overgrowth), NSD1 deletion vs mutation genotype-phenotype correlation, and tumor surveillance requirements

Each component has a specific meaning:

• Three cardinal features (facial gestalt — The three cardinal features (facial gestalt recorded for the scenario being assessed.
• Learning disability — The learning disability recorded for the scenario being assessed.
• Overgrowth) — The overgrowth) recorded for the scenario being assessed.
• NSD1 deletion vs mutation genotype-phenotype correlation — The nsd1 deletion vs mutation genotype-phenotype correlation recorded for the scenario being assessed.
• Tumor surveillance requirements — The tumor surveillance requirements recorded for the scenario being assessed.

Note: Interpret the sotos syndrome score result against the thresholds and context described above.

Enter the three cardinal features (facial gestalt, learning disability, overgrowth), NSD1 deletion vs mutation genotype-phenotype correlation, tumor surveillance requirements for the scenario you are assessing. Assesses Sotos syndrome using the three cardinal features (facial gestalt, learning disability, overgrowth), NSD1 deletion vs mutation genotype-phenotype correlation, and tumor surveillance requirements. Use the sotos syndrome score result to inform your calculation.