ALG9, ALG9 alpha-1,2-mannosyltransferase, 79796

N. diseases: 80; N. variants: 7
Disease: Lethal skeletal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia 		0.010 GeneticVariation disease BEFREE Our study shows that some pathogenic variants in ALG9 can present as a lethal skeletal dysplasia with visceral malformations as the most severe phenotype. 25966638 2016