ARX, aristaless related homeobox, 170302

N. diseases: 249; N. variants: 44
Disease: Hydranencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020225
Disease: Hydranencephaly
Hydranencephaly 		0.010 GeneticVariation disease BEFREE Recently, longer expansion of the first polyalanine tract of ARX was found to be causative for Ohtahara syndrome without brain malformation, whereas premature termination mutations of ARX were found to cause severe brain malformations, such as lissencephaly or hydranencephaly. 20384723 2010