C3939Level 7
Bannayan-Riley-Ruvalcaba Syndrome
**Semantic type:** Disease or Syndrome
**Definition:** A genetic syndrome caused by mutations in the PTEN gene. It is characterized by macrocephaly and the presence of hamartomas.
**Synonyms:** - Bannayan Syndrome - Bannayan Syndrome - Bannayan-Zonana Syndrome - Macrocephaly with Multiple Lipomas and Hemangiomas - Ruvalcaba Syndrome - Ruvalcaba-Myhre-Smith Syndrome
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