COL4A1, collagen type IV alpha 1 chain, 1282

N. diseases: 277; N. variants: 62
Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 GeneticVariation disease BEFREE A 4-year-old girl was COL4A1 mutation-positive and suffered from drug-resistant epilepsy, hemiplegia, and developmental delay. 27916450 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 GeneticVariation disease BEFREE COL4A1 mutations disrupt the integrity of vascular basement membranes, so predisposing to a broad spectrum of disorders including periventricular leucomalacia, haemorrhagic stroke, aneurysm formation, epilepsy and developmental delay. 24864020 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 Biomarker disease GENOMICS_ENGLAND Clinical and brain MRI follow-up study of a family with COL4A1 mutation. 17938367 2007
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 Biomarker disease HPO