Partington Syndrome

About the Disease
Partington Syndrome, also known as x-linked reticulate pigmentary disorder, is related to intellectual developmental disorder, x-linked 29 and west syndrome, and has symptoms including ataxia, seizures and diarrhea. An important gene associated with Partington Syndrome is ARX (Aristaless Related Homeobox). Affiliated tissues include skin, eye and brain, and related phenotypes are triangular face and limb dystonia

Common Targets
ARX

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