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Partington syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.
Uniprot Description Characterized by mental retardation, episodic dystonic hand movements, and dysarthria.
Disease Ontology Description A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria.
Mondo Term and Equivalent IDs
MONDO:0010654:  Partington syndrome
GARD:0004235: 
Orphanet:94083: