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GENATLAS PHENOTYPE

last update : 10/04/2006

Symbol	BHC
Location	14q13.3
Name	benign hereditary chorea
Corresponding gene	NKX2-1
Other symbol(s)	BCH
Main clinical features	early onset, non progressive, with dysarthria, axial dystonia and gait disturbance, including choreoathetosis, with hypothyroidism and respiratory distress
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Gene product

Name	thyroïd transcription factor 1

Remark(s)