SEPTIN5, septin 5, 5413

N. diseases: 29; N. variants: 4
Disease: Polymicrogyria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.010 Biomarker disease BEFREE This report describes for the first time a patient with SEPT5 deficiency presenting with cortical dysplasia (polymicrogyria), developmental delay, and platelet secretion defect. 21800012 2011