Boucher-Neuhauser Syndrome (BNHS)

Boucher-Neuhauser Syndrome(来自ICD-11)

别称:

Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome

Spinocerebellar Ataxia, Hypogonadotropic Hypogonadism, and Chorioretinal Dystrophy

Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism

Boucher-Neuhäuser Syndrome

Bnhs

Cerebellar Ataxia with Hypogonadism and Choroidal Dystrophy Syndrome

Boucher Neuhauser Syndrome

Bns

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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 and cerebellum, and related phenotypes are ataxia and hypogonadotropic hypogonadism

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