DDX59, DEAD-box helicase 59, 83479

N. diseases: 42; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.010 GeneticVariation disease BEFREE DDX59 variants have been reported previously in an unclassified, autosomal recessive form of OFDS; clinically associated with features including tongue lobulation, cleft palate, frontal bossing, hypertelorism and postaxial polydactyly. 28711741 2017