Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Sotos-Syndrom 1

Der zerebraler Gigantismus ist eine autosomal dominante Erkrankung die durch Mutationen im NSD1-Gen ausgelöst wird. Neben einem vermehrten Knochenwachstum sind intellektuelle Störungen charakteristisch.

Gliederung

Minderwuchs
Akro-capito-femorale Dysplasie
Brachydaktylie
Kleinwuchs, SHOX-bedingt
Sotos-Syndrom 1
NSD1
Syndromale Wachstumsstörung

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OMIM.ORG article

Omim 117550 external link
Update: 14. August 2020
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