Takenouchi-Kosaki Syndrome

About the Disease
Takenouchi-Kosaki Syndrome, also known as macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, is related to alacrima, achalasia, and mental retardation syndrome and sensorineural hearing loss. An important gene associated with Takenouchi-Kosaki Syndrome is CDC42 (Cell Division Cycle 42). Affiliated tissues include skin, brain and heart, and related phenotypes are abnormal facial shape and brain imaging abnormality

Common Targets
CDC42

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