BOUCHER-NEUHAUSER SYNDROME

BNHS

http://purl.bioontology.org/ontology/OMIM/215470

BNHS

SPINOCEREBELLAR ATAXIA, HYPOGONADOTROPIC HYPOGONADISM, AND CHORIORETINAL DYSTROPHY

C1859093

19p13.3

NTEMND

PNPLA6

OMCS

SPG39

BNHS

LNMS

NTE

http://purl.bioontology.org/ontology/OMIM/MTHU000329

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU001998

http://purl.bioontology.org/ontology/OMIM/MTHU010386

http://purl.bioontology.org/ontology/OMIM/MTHU036543

http://purl.bioontology.org/ontology/OMIM/MTHU022231

http://purl.bioontology.org/ontology/OMIM/MTHU051424

http://purl.bioontology.org/ontology/OMIM/MTHU036378

http://purl.bioontology.org/ontology/OMIM/MTHU013825

http://purl.bioontology.org/ontology/OMIM/MTHU000136

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU001336

http://purl.bioontology.org/ontology/OMIM/MTHU067558

http://purl.bioontology.org/ontology/OMIM/MTHU013824

http://purl.bioontology.org/ontology/OMIM/MTHU000926

http://purl.bioontology.org/ontology/OMIM/MTHU010625

http://purl.bioontology.org/ontology/OMIM/MTHU004057

http://purl.bioontology.org/ontology/OMIM/MTHU041808

http://purl.bioontology.org/ontology/OMIM/MTHU013828

http://purl.bioontology.org/ontology/OMIM/MTHU004823

Phenotype description, molecular basis known.

215470

3

pound

BOUCHER-NEUHAUSER SYNDROME

Some features are variable, even within families [MISCELLANEOUS]

Neurologic signs onset during adolescence or young adulthood [MISCELLANEOUS]

Ophthalmologic signs onset in first to sixth decade [MISCELLANEOUS]

Caused by mutation in the patatin-like phospholipase domain-containing protein 6 (PNPLA6, 603197.0004) [MOLECULAR BASIS]

Some patients become wheelchair-bound [MISCELLANEOUS]

Progressive disorder [MISCELLANEOUS]

T047