Disease

Mosaic Variegated Aneuploidy Syndrome 2

About the Disease
Mosaic Variegated Aneuploidy Syndrome 2, also known as mva2, is related to mosaic variegated aneuploidy syndrome and autosomal dominant intellectual developmental disorder 40. An important gene associated with Mosaic Variegated Aneuploidy Syndrome 2 is CEP57 (Centrosomal Protein 57), and among its related pathways/superpathways are EML4 and NUDC in mitotic spindle formation and Organelle biogenesis and maintenance. Affiliated tissues include heart, eye and lung, and related phenotypes are frontal bossing and sleep apnea

Common Targets
BUB1B | CEP57

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Mosaic Variegated Aneuploidy Syndrome 2

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