Condition: PORENCEPHALY 2


rs387906602 in COL4A2 gene and PORENCEPHALY 2 PMID 22209246 2012 De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.

rs797044947 in COL4A2-AS1;COL4A2 gene and PORENCEPHALY 2 PMID 22333902 2012 COL4A2 mutation associated with familial porencephaly and small-vessel disease.