Das Simpson-Golabi-Behmel-Syndrom 1 ist ein x-chromosomales Fehlbildungssyndrom, welches durch Mutationen im GPC3-Gen ausgelöst wird. Zu den Merkmalen gehören prä- und postnataler Großwuchs, faziale und andere viszerale und skeletale Dysmorphien. Organomegalie und ein erhöhtes Tumorrisiko.
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OMIM.ORG article Omim 312870 |