Log In|Sign Up
ENBoucher-Neuhauser Syndrome (BNHS)
Alias:
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
Favorite
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
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
