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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:0001265 | Hyporeflexia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002066 | Gait ataxia |
| HP:0000613 | Photophobia |
| HP:0003621 | Juvenile onset |
| HP:0001257 | Spasticity |
| HP:0003693 | Distal amyotrophy |
| HP:0002127 | Abnormal upper motor neuron morphology |
| HP:0000529 | Progressive visual loss |
| HP:0001272 | Cerebellar atrophy |
