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Table 1 Cleveland Clinic criteria for identifying pediatric patients who would benefit from PTEN sequencing

From: Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers

1. Macrocephaly (≥ 2 Standard Deviations from Mean)

AND

2. At least one of the following four additional criteria

 A. Autism or Developmental Delay

 B. Dermatologic features, including lipomas, trichilemmomas, oral papillomas, or penile freckling

 C. Vascular features, such as arteriovenous malformations or hemangiomas

 D. Gastrointestinal Polyps