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GENATLAS PHENOTYPE

last update : 16-11-2016

Symbol	HTX2
Location	2q21.1
Name	abnormal left-right axis with visceroatrial heterotaxy (situs ambiguus)
Corresponding gene	CFC1
Other symbol(s)	HTX
Main clinical features	characterized by pulmonary atresia or stenosis, laterality defects, aplasia/polysplenia syndrome, gastrointestinal malrotation, defects of the lumbosacral spine and hind-gut, component of Ivemark syndrome
Genetic determination	not applicable
Function/system disorder	respiratory
	cardiovascular
	congenital malformation
Type	disease

Gene product

Name	cripto, FRL-1, cryptic family 1

Remark(s)