Major criteria | Minor criteria |
---|---|
Macrocephaly | Autism spectrum disease |
Family history positive for PTEN gene mutation | Mental retardation (i.e., IQ < 75) |
Dermatological findings like - Trichilemmoma - Oral papilloma - Penile freckling | cMRI findings like - Enlarged perivascular spaces - White matter abnormalities |
Vascular anomalies/malformations | Lipoma/lipomatosis |
Multiple gastrointestinal hamartoma or ganglioneuroma | Esophageal acanthosis |
Thyroid adenoma and thyroid carcinoma | Other thyroid lesions (e.g., multinodular goiter, autoimmune thyroid disease) |
Breast cancer | Testicular lipomatosis |
Endometrial cancer | Renal carcinoma |