Ataxia-hypogonadism-choroidal Dystrophy Syndrome

About the Disease
Boucher-Neuhauser Syndrome, also known as ataxia-hypogonadism-choroidal dystrophy syndrome, is related to gordon holmes syndrome and hypogonadotropic hypogonadism 7 with or without anosmia, and has symptoms including cerebellar ataxia, action tremor and scanning speech. An important gene associated with Boucher-Neuhauser Syndrome is PNPLA6 (Patatin Like Phospholipase Domain Containing 6). Affiliated tissues include eye, cerebellum and breast, and related phenotypes are ataxia and chorioretinal dystrophy

Common Targets
PNPLA6

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