| Metadata | |
|---|---|
| ID | DOID:0111265 |
| Name | Boucher-Neuhauser syndrome |
| Definition | A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. https://www.ncbi.nlm.nih.gov/pubmed/24355708 |
| Xrefs |
SNOMEDCT_US_2023_03_01:715984007 |
| Subsets |
DO_rare_slim |
| Synonyms |
ataxia-hypogonadism-choroidal dystrophy syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |