Disease: Limb Deformities, Congenital ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital 		0.010 GeneticVariation group BEFREE Biallelic loss-of-function mutations in the RNA-binding protein EIF4A3 cause Richieri-Costa-Pereira syndrome (RCPS), an autosomal recessive condition mainly characterized by craniofacial and limb malformations. 28334780 2017