VLDLR, very low density lipoprotein receptor, 7436

N. diseases: 143; N. variants: 24
Disease: Congenital pontocerebellar hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		0.010 Biomarker disease BEFREE In this report, we present 3 patients from 2 different families displaying very low density lipoprotein receptor-associated pontocerebellar hypoplasia, cortical dysplasia, mental retardation, and bipedal gait. 22532556 2013