22q11.2 Deletion Syndrome Phenotype Severity Calculator

Score phenotypic severity and multisystem involvement in 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome) across cardiac, immunological, palatal, endocrine, neuropsychiatric, and learning domains.

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Clinical Guidance

BMI is a screening measure of body size, not a direct measure of body fat. The standard WHO categories are underweight (<18.5), normal (18.5–24.9), overweight (25–29.9), and obese (≥30).

BMI can overestimate body fat in athletes with high muscle mass and underestimate it in older adults with low muscle mass. Interpret it alongside waist circumference and clinical context rather than as a standalone diagnosis.

⚕ Clinical Disclaimer: These calculators are for educational and reference purposes only. Always verify results with qualified clinical judgment and current clinical guidelines. Do not use as a sole basis for medical decisions.
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How It Works

Score phenotypic severity and multisystem involvement in 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome) across cardiac, immunological, palatal, endocrine, neuropsychiatric, and learning domains

Each component has a specific meaning:

  • Cardiac — The cardiac recorded for the scenario being assessed.
  • Immunological — The immunological recorded for the scenario being assessed.
  • Palatal — The palatal recorded for the scenario being assessed.
  • Endocrine — The endocrine recorded for the scenario being assessed.
  • Neuropsychiatric — The neuropsychiatric recorded for the scenario being assessed.
  • Learning domains — The learning domains recorded for the scenario being assessed.

Note: Interpret the 22q11 severity result against the thresholds and context described above.

How to Use

Enter the cardiac, immunological, palatal, endocrine, neuropsychiatric, learning domains for the scenario you are assessing. Score phenotypic severity and multisystem involvement in 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome) across cardiac, immunological, palatal, endocrine, neuropsychiatric, and learning domains. Use the 22q11 severity result to inform your calculation.

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