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ENRitscher-Schinzel Syndrome 2 (RTSC2)
Alias:
Rtsc2
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Ritscher-Schinzel Syndrome 2, also known as rtsc2, is related to mednik syndrome and patterned macular dystrophy. An important gene associated with Ritscher-Schinzel Syndrome 2 is CCDC22 (Coiled-Coil Domain Containing 22), and among its related pathways/superpathways is Guidance Cues and Growth Cone Motility. Affiliated tissues include heart and brain, and related phenotypes are hypotonia and global developmental delay
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