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Summary Literature (0)
DOID:0060486 - Perry syndrome

Disease Ontology Definition:A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss; that has material basis in heterozygous mutation in the DCTN1 gene on chromosome 2p13.. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later.

Synonyms: parkinsonism with alveolar hypoventilation and mental depression

Xenbase Genes : dctn1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008201 - Perry syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndrome (is_a)