Knobloch Syndrome

About the Disease
Knobloch Syndrome, also known as retinal detachment-occipital encephalocele syndrome, is related to knobloch syndrome 1 and fundus dystrophy, and has symptoms including seizures and unspecified visual loss. An important gene associated with Knobloch Syndrome is COL18A1 (Collagen Type XVIII Alpha 1 Chain). Affiliated tissues include eye, retina and bone, and related phenotypes are myopia and retinal detachment

Common Targets
COL18A1 | PAK2 | ADAMTS18

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