Perry syndrome

Term ID

DOID:0060486

Synonyms

• 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. (2)

References

• GARD:10453
• MESH:C566822
• OMIM:168605
• ORDO:178509

Ontology

Human Disease   ( DOID:0060486 )