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.