COL4A2, collagen type IV alpha 2 chain, 1284

N. diseases: 131; N. variants: 38
Disease: Schizencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.010 GeneticVariation disease BEFREE Our study further emphasizes the need to search for both COL4A1 and COL4A2 mutations in children presenting with uni- or bilateral polymicrogyria with schizencephaly, even in the absence of intracranial microbleeds, calcification or associated systemic features. 30315939 2018