Condition: Lissencephaly, X-Linked, 2


rs104894741 in ARX gene and Lissencephaly, X-Linked, 2 PMID 14722918 2004 Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

PMID 12379852 2002 Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.