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Perry syndrome
Summary
- Synonym
-
- parkinsonism with alveolar hypoventilation and mental depression
- Definition
- A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0060486
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| B0YJ81 | Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 |
