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Boucher-Neuhauser syndrome
Summary
- Synonym
-
- ataxia-hypogonadism-choroidal dystrophy 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111265
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8IY17 | Patatin-like phospholipase domain-containing protein 6 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001135 | Chorioretinal dystrophy |
| HP:0000044 | Hypogonadotropic hypogonadism |
| HP:0001251 | Ataxia |
| HP:0001256 | Intellectual disability, mild |
| HP:0002168 | Scanning speech |
| HP:0000556 | Retinal dystrophy |
| HP:0007263 | Spinocerebellar atrophy |
| HP:0001284 | Areflexia |
| HP:0002080 | Intention tremor |
| HP:0003676 | Progressive |
