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GENATLAS PHENOTYPE

last update : 29-04-2016

Symbol	COCBS
Location	6q27
Name	Childhood-Onset Chorea with Bilateral Striatal Lesions
Corresponding gene	PDE10A
Main clinical features	in childhood (mean age of 3 months), axial hypotonia and generalized hyperkinetic movement disorder, dyskinesia of the limbs and trunk; the hyperkinetic movements had a jerky quality, and intermittent chorea and ballismus were also present; facial involvement was evident with orolingual dyskinesia, drooling, and dysarthria mild cognitive delay and severe axial hypotonia characteristic brain MRI showing symmetrical bilateral striatal lesions
Genetic determination	not applicable
Function/system disorder	neurology
Type	disease

Remark(s)

. biallelic PDE10A mutations results in striatal dysfunction, leading to a hyperkinetic movement disorder (PMID: 27058446))