(Q55781749)
English
ataxia-hypogonadism-choroidal dystrophy syndrome
An autosomal recessive disease characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has material basis in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.
- BOUCHER-NEUHAUSER SYNDROME; BNHS
- Spinocerebellar Ataxia, Hypogonadotropic Hypogonadism, and Chorioretinal Dystrophy
- BOUCHER-NEUHAUSER SYNDROME
- BNHS
- Boucher-NeuhC$user syndrome
- Boucher-Neuhäuser syndrome
- Boucher-Neuhauser syndrome
Statements
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Identifiers
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Sitelinks
Wikipedia(1 entry)
- enwiki Boucher-Neuhäuser syndrome